TUBB1

Summary

TUBB1 (tubulin beta 1 class VI, HGNC:16257) is a protein-coding gene on chromosome 20q13.32, encoding Tubulin beta-1 chain (Q9H4B7). Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.

This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.

Source: NCBI Gene 81027 — RefSeq curated summary.

At a glance

• Gene–disease (curated): macrothrombocytopenia, isolated, 1, autosomal dominant (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 40
• Clinical variants (ClinVar): 337 total — 3 pathogenic, 13 likely-pathogenic
• Phenotypes (HPO): 12
• Druggable target: yes — 22 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_030773

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16257
Approved symbol	TUBB1
Name	tubulin beta 1 class VI
Location	20q13.32
Locus type	gene with protein product
Status	Approved
Aliases	dJ543J19.4
Ensembl gene	ENSG00000101162
Ensembl biotype	protein_coding
OMIM	612901
Entrez	81027

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000217133

RefSeq mRNA: 1 — MANE Select: NM_030773 NM_030773

CCDS: CCDS13475

Canonical transcript exons

ENST00000217133 — 4 exons

Exon	Start	End
ENSE00000663009	59022845	59022953
ENSE00000663010	59023490	59023600
ENSE00001029829	59023705	59026654
ENSE00001029832	59019429	59019579

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 99.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.5703 / max 1751.0931, expressed in 152 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185600	5.5934	142
185599	0.9769	60

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.08	gold quality
mononuclear cell	CL:0000842	98.68	gold quality
leukocyte	CL:0000738	98.26	gold quality
trabecular bone tissue	UBERON:0002483	93.45	gold quality
blood	UBERON:0000178	90.36	gold quality
granulocyte	CL:0000094	88.26	gold quality
bone marrow	UBERON:0002371	81.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.06	gold quality
bone marrow cell	CL:0002092	75.97	gold quality
right lung	UBERON:0002167	73.40	gold quality
spleen	UBERON:0002106	67.33	gold quality
islet of Langerhans	UBERON:0000006	65.02	gold quality
cortical plate	UBERON:0005343	64.80	gold quality
sperm	CL:0000019	64.61	silver quality
upper lobe of left lung	UBERON:0008952	64.47	gold quality
upper lobe of lung	UBERON:0008948	63.75	gold quality
male germ cell	CL:0000015	63.57	silver quality
lower lobe of lung	UBERON:0008949	60.96	silver quality
decidua	UBERON:0002450	60.56	silver quality
pancreatic ductal cell	CL:0002079	60.40	silver quality
buccal mucosa cell	CL:0002336	60.04	gold quality
lung	UBERON:0002048	59.43	gold quality
deltoid	UBERON:0001476	58.08	silver quality
placenta	UBERON:0001987	56.52	gold quality
adrenal tissue	UBERON:0018303	55.80	gold quality
nasal cavity epithelium	UBERON:0005384	55.43	gold quality
ileal mucosa	UBERON:0000331	53.69	silver quality
ganglionic eminence	UBERON:0004023	53.69	gold quality
quadriceps femoris	UBERON:0001377	52.67	gold quality
epithelial cell of pancreas	CL:0000083	52.62	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-GEOD-150728	yes	14467.84
E-CURD-122	yes	7056.74
E-MTAB-10432	yes	6800.97
E-GEOD-139324	yes	5615.65
E-MTAB-6701	yes	4302.36
E-CURD-55	yes	3889.57
E-MTAB-8207	yes	3691.04
E-HCAD-4	yes	44.23
E-MTAB-9221	yes	25.15
E-HCAD-10	yes	17.76
E-HCAD-1	yes	9.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting TUBB1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3681-5P	99.82	66.88	387
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-6849-5P	99.64	66.00	352
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-578	99.46	68.36	1787

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 25)

• SLPI localizes in part along the megakaaryocyte and platelet cytoskeleton by virtue of specific interactions with beta1 tubulin. (PMID:15315966)
• the platelet Q43P beta1-tubulin substitution is frequent in the healthy population and may protect men against arterial thrombosis (PMID:15956286)
• The TUBB1 Q43P polymorphism, by causing a lower reactivity in platelets carrying the variant form of b1-tubulin, protects against thrombotic disorders but increases the risk of intracerebral hemorrhage in men. (PMID:17488662)
• biophysical analysis of carboxy-terminal tail conformation of human beta-tubulin isotypes (PMID:17993481)
• Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. (PMID:18849486)
• TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction. (PMID:19132255)
• Studies show that BFBTS bound and modified beta-tubulin at residue Cys12, forming beta-tubulin-SS-fluorobenzyl. (PMID:19996274)
• homozygous status of P43 genetic polymorphism causes alterations in platelet ultrastructure (PMID:21384078)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• our findings define beta-tubulin VI as a hematologic isotype with significant genetic variation in humans that may affect the myelosuppresive action of microtubule-binding drugs (PMID:22805305)
• TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia. (PMID:24344610)
• Data indicate that ABCB1 protein, beta tubulin I and III (betaI, and betaIII tubulin) might contribute to the multidrug resistance (MDR) of MCF7/DOC and be potential therapeutic targets for overcoming MDR of breast cancer. (PMID:24894670)
• TUBB1 R307H SNP is significantly associated with the degree of thrombocytopenia in congenital and acquired platelet disorders, and may affect platelets by altering microtubule behavior. (PMID:25529050)
• Analysis of the TUBB1 gene revealed three known missense variants in heterozygous state which in combination might explain the beta1-tubulin defect. (PMID:26540125)
• novel DCX mutation (p.D90G, NP_000546.2) appeared to be a major causative variant, whereas the novel mutation of TUBB1 (p.R62fsX, NP_110400.1) was found only in patients with more-severe intellectual disability in Familial pachygyria (PMID:26743950)
• A novel mutation (c.1267C>T nonsense mutation (p.Q423*)) located in the C-terminal part of the beta1-tubulin protein is reported, confirming that this domain plays a key role in microtubule assembly. (PMID:27905099)
• Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion. (PMID:29044293)
• TUBB1 mutations caused the formation of macroplatelets and hyperaggregation of human platelets after stimulation by low doses of agonists. (PMID:30446499)
• Author found that the nuclear accumulation of p53 (also termed TP53) and the expression of pro-apoptotic genes triggered by genotoxic stress were blocked in TUBB1-deficient cells and, accordingly, apoptosis after DNA damage was diminished by knockdown of TUBB1. (PMID:30854628)
• novel mutation is detected in the exon of the TUBB1 gene in children with hypothyroidism and thyroid dysgenesis in Shandong (PMID:31642429)
• Identification of novel TUBB1 variants in patients with macrothrombocytopenia. (PMID:32892537)
• Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing. (PMID:33400601)
• Associations between TUBB-WWOX SNPs, their haplotypes, gene-gene, and gene-environment interactions and dyslipidemia. (PMID:33612478)
• Expanding the genetic spectrum of TUBB1-related thrombocytopenia. (PMID:34516618)
• ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma. (PMID:35388751)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tubb1	ENSDARG00000053066
mus_musculus	Tubb1	ENSMUSG00000016255
rattus_norvegicus	Tubb1	ENSRNOG00000046151

Paralogs (23): TUBG2 (ENSG00000037042), TUBE1 (ENSG00000074935), TUBA3D (ENSG00000075886), TUBB4A (ENSG00000104833), TUBD1 (ENSG00000108423), TUBA1B (ENSG00000123416), TUBA4A (ENSG00000127824), TUBG1 (ENSG00000131462), TUBB2A (ENSG00000137267), TUBB2B (ENSG00000137285), TUBA3E (ENSG00000152086), TUBA1A (ENSG00000167552), TUBA1C (ENSG00000167553), TUBB8B (ENSG00000173213), TUBB6 (ENSG00000176014), TUBAL3 (ENSG00000178462), TUBA8 (ENSG00000183785), TUBB4B (ENSG00000188229), TUBB (ENSG00000196230), TUBA3C (ENSG00000198033), TUBA4B (ENSG00000243910), TUBB3 (ENSG00000258947), TUBB8 (ENSG00000261456)

Protein

Protein identifiers

Tubulin beta-1 chain — Q9H4B7 (reviewed: Q9H4B7)

All UniProt accessions (1): Q9H4B7

UniProt curated annotations — full annotation on UniProt →

Function. Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.

Subunit / interactions. Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with RANBP10.

Subcellular location. Cytoplasm. Cytoskeleton.

Tissue specificity. Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins.

Post-translational modifications. Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group. Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Glutamylation is also involved in cilia motility. Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into cilia and flagella axonemes, which is required for their stability and maintenance. Flagella glycylation controls sperm motility. Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.

Disease relevance. Macrothrombocytopenia, isolated, 1, autosomal dominant (MACTHC1) [MIM:613112] A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The MREI motif is common among all beta-tubulin isoforms and may be critical for tubulin autoregulation.

Similarity. Belongs to the tubulin family.

RefSeq proteins (1): NP_110400* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000217	Tubulin	Family
IPR002453	Beta_tubulin	Family
IPR003008	Tubulin_FtsZ_GTPase	Domain
IPR008280	Tub_FtsZ_C	Homologous_superfamily
IPR013838	Beta-tubulin_BS	Binding_site
IPR017975	Tubulin_CS	Conserved_site
IPR018316	Tubulin/FtsZ_2-layer-sand-dom	Domain
IPR023123	Tubulin_C	Homologous_superfamily
IPR036525	Tubulin/FtsZ_GTPase_sf	Homologous_superfamily
IPR037103	Tubulin/FtsZ-like_C	Homologous_superfamily

Pfam: PF00091, PF03953

UniProt features (20 total): binding site 9, sequence variant 5, modified residue 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4B7-F1	90.92	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (9): 144; 204; 226; 11; 69; 69; 138; 142; 143

Post-translational modifications (2): 172, 440

Function

Pathways and Gene Ontology

Reactome pathways

86 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-190840	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
R-HSA-190861	Gap junction assembly
R-HSA-2132295	MHC class II antigen presentation
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-3371497	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-389957	Prefoldin mediated transfer of substrate to CCT/TriC
R-HSA-389960	Formation of tubulin folding intermediates by CCT/TriC
R-HSA-389977	Post-chaperonin tubulin folding pathway
R-HSA-437239	Recycling pathway of L1
R-HSA-5610787	Hedgehog ‘off’ state
R-HSA-5620920	Cargo trafficking to the periciliary membrane
R-HSA-5620924	Intraflagellar transport
R-HSA-5626467	RHO GTPases activate IQGAPs
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-6811436	COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877	Mitotic Prometaphase
R-HSA-8852276	The role of GTSE1 in G2/M progression after G2 checkpoint
R-HSA-8955332	Carboxyterminal post-translational modifications of tubulin
R-HSA-9609690	HCMV Early Events
R-HSA-9609736	Assembly and cell surface presentation of NMDA receptors
R-HSA-9619483	Activation of AMPK downstream of NMDARs
R-HSA-9646399	Aggrephagy
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-9668328	Sealing of the nuclear envelope (NE) by ESCRT-III
R-HSA-983189	Kinesins

MSigDB gene sets: 237 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_PLATELET_ACTIVATION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_WOUND_HEALING, GOBP_CELL_CELL_ADHESION, GOBP_PLATELET_MORPHOGENESIS, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, GOBP_HOMOTYPIC_CELL_CELL_ADHESION, GOBP_HEMOSTASIS

GO Biological Process (9): microtubule cytoskeleton organization (GO:0000226), mitotic cell cycle (GO:0000278), platelet formation (GO:0030220), thyroid gland development (GO:0030878), microtubule polymerization (GO:0046785), spindle assembly (GO:0051225), thyroid hormone transport (GO:0070327), platelet aggregation (GO:0070527), microtubule-based process (GO:0007017)

GO Molecular Function (5): GTPase activity (GO:0003924), structural constituent of cytoskeleton (GO:0005200), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166)

GO Cellular Component (7): cytoplasm (GO:0005737), microtubule (GO:0005874), microtubule cytoskeleton (GO:0015630), intercellular bridge (GO:0045171), extracellular exosome (GO:0070062), mitotic spindle (GO:0072686), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Mitotic Prometaphase	2
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	2
Assembly of the 9+0 primary cilium	2
RHO GTPase Effectors	2
Golgi-to-ER retrograde transport	2
Membrane Trafficking	1
Transport of connexons to the plasma membrane	1
Gap junction trafficking	1
Adaptive Immune System	1
Mitotic Anaphase	1
Cellular responses to stress	1
Protein folding	1
L1CAM interactions	1
Signaling by Hedgehog	1
ER to Golgi Anterograde Transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton organization	2
cytoskeleton	2
cellular anatomical structure	2
microtubule-based process	1
cell cycle	1
mitotic nuclear division	1
myeloid cell differentiation	1
platelet morphogenesis	1
anatomical structure formation involved in morphogenesis	1
endocrine system development	1
gland development	1
microtubule nucleation	1
microtubule polymerization or depolymerization	1
protein polymerization	1
supramolecular fiber organization	1
spindle organization	1
chromosome segregation	1
membraneless organelle assembly	1
hormone transport	1
platelet activation	1
homotypic cell-cell adhesion	1
cellular process	1
ribonucleoside triphosphate phosphatase activity	1
structural molecule activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
extracellular vesicle	1
spindle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

3728 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TUBB1	TUBA1B	P04687	856
TUBB1	TUBAL3	A6NHL2	808
TUBB1	TUBA1B	P04687	807
TUBB1	TUBA4A	P05215	807
TUBB1	TUBA3E	Q6PEY2	807
TUBB1	TUBA1C	Q9BQE3	807
TUBB1	TUBA8	Q9NY65	807
TUBB1	TUBA3C	P0DPH7	806
TUBB1	ATP5F1E	P56381	795
TUBB1	CTSZ	Q9UBR2	742
TUBB1	SLPI	P03973	692
TUBB1	ELANE	P08246	588
TUBB1	GRN	P23781	550
TUBB1	PEAR1	Q5VY43	500
TUBB1	EPB41L4B	Q9H329	476

IntAct

183 interactions, top by confidence:

A	B	Type	Score
NPHP4	NPHP1	psi-mi:“MI:0914”(association)	0.930
PRKAB1	PRKAB2	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CRHBP	CCNB2	psi-mi:“MI:0914”(association)	0.640
NME3	NME4	psi-mi:“MI:0914”(association)	0.640
RPGR	NPHP1	psi-mi:“MI:0914”(association)	0.560
OTC	RTL8C	psi-mi:“MI:0914”(association)	0.530
PSG8	PEX7	psi-mi:“MI:0914”(association)	0.530
NPAS1	DNAJB5	psi-mi:“MI:0914”(association)	0.530
ADAMTS4	MANBA	psi-mi:“MI:0914”(association)	0.530
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
CTDSP1	CTDSP2	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
LIPG	NRP1	psi-mi:“MI:0914”(association)	0.530
CLEC5A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
TUBB2B	EML2	psi-mi:“MI:0914”(association)	0.530
WNT7A	LDLR	psi-mi:“MI:0914”(association)	0.530
ALPI	ALPP	psi-mi:“MI:0914”(association)	0.530
KLHL33	HSPD1	psi-mi:“MI:0914”(association)	0.530
SERPINC1	BTD	psi-mi:“MI:0914”(association)	0.530
ENPP7	TUBB3	psi-mi:“MI:0914”(association)	0.530
MFSD11	UBE2Q1	psi-mi:“MI:0914”(association)	0.530

BioGRID (195): TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS), TUBB1 (Affinity Capture-MS)

ESM2 similar proteins: A0AAL4, A2AQ07, O22348, P04688, P04689, P06606, P08841, P09207, P09243, P09733, P09734, P10873, P10875, P11139, P12543, P14640, P14641, P14642, P24633, P24634, P24637, P25862, P28551, P29511, P31017, P32255, P32256, P33624, P41386, P49741, P52274, P53371, P53372, P87066, P92120, Q24829, Q4P235, Q53M52, Q6VAG1, Q71G51

Diamond homologs: A2AQ07, A6NNZ2, O04386, O17449, O44388, P02554, P04350, P04690, P07436, P07437, P08841, P09203, P09206, P09207, P09244, P09652, P09653, P10876, P10878, P11482, P11833, P11857, P12456, P13602, P14643, P18241, P20365, P22852, P30883, P32882, P33188, P34108, P36221, P37832, P41352, P41387, P41937, P46265, P50261, P50262

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
cabazitaxel	“down-regulates activity”	TUBB1	“chemical inhibition”
“docetaxel anhydrous”	“down-regulates activity”	TUBB1	“chemical inhibition”
“eribulin mesylate”	“down-regulates activity”	TUBB1	“chemical inhibition”
paclitaxel	“down-regulates activity”	TUBB1	“chemical inhibition”
TUBB1	up-regulates	Proliferation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 228 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	10	37.5×	3e-12
Transport of connexons to the plasma membrane	10	37.5×	3e-12
Gap junction trafficking and regulation	10	32.8×	1e-11
Gap junction trafficking	10	32.8×	1e-11
Activation of AMPK downstream of NMDARs	12	31.5×	2e-13
Selective autophagy	15	28.8×	7e-16
RHO GTPases activate IQGAPs	11	26.2×	1e-11
Formation of tubulin folding intermediates by CCT/TriC	9	26.2×	1e-09

GO biological processes:

GO term	Partners	Fold	FDR
intrinsic apoptotic signaling pathway	7	12.1×	6e-04
autophagosome maturation	6	10.1×	6e-03
microtubule cytoskeleton organization	16	9.3×	2e-08
mitophagy	6	9.2×	9e-03
mitotic cell cycle	13	8.4×	4e-06
G1/S transition of mitotic cell cycle	8	7.7×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

337 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	13
Uncertain significance	202
Likely benign	65
Benign	15

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1698773	NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter)	Pathogenic
1703807	NM_030773.4(TUBB1):c.806G>A (p.Gly269Asp)	Pathogenic
586965	NM_030773.4(TUBB1):c.318C>G (p.Tyr106Ter)	Pathogenic
1028901	NM_030773.4(TUBB1):c.57+1G>A	Likely pathogenic
1684388	NM_030773.4(TUBB1):c.726C>G (p.Phe242Leu)	Likely pathogenic
1709749	NM_030773.4(TUBB1):c.166+1G>C	Likely pathogenic
3345305	NM_030773.4(TUBB1):c.1257_1260delinsTGAGTACCATGTT (p.Ser420delinsGluTyrHisVal)	Likely pathogenic
3380916	NM_030773.4(TUBB1):c.838C>T (p.Gln280Ter)	Likely pathogenic
3391094	NM_030773.4(TUBB1):c.796_798del (p.Phe266del)	Likely pathogenic
4077724	NM_030773.4(TUBB1):c.128_131delinsCCC (p.Gln43fs)	Likely pathogenic
4082538	NM_030773.4(TUBB1):c.579dup (p.Glu194Ter)	Likely pathogenic
4082539	NM_030773.4(TUBB1):c.79G>T (p.Glu27Ter)	Likely pathogenic
4542392	NM_030773.4(TUBB1):c.62G>A (p.Trp21Ter)	Likely pathogenic
626979	NM_030773.4(TUBB1):c.1194del (p.Trp397_Tyr398insTer)	Likely pathogenic
627158	NM_030773.4(TUBB1):c.945C>A (p.Cys315Ter)	Likely pathogenic
812737	NM_030773.4(TUBB1):c.297C>A (p.Asn99Lys)	Likely pathogenic

SpliceAI

407 predictions. Top by Δscore:

Variant	Effect	Δscore
20:59022840:TTCA:T	acceptor_loss	1.0000
20:59022842:CAGT:C	acceptor_loss	1.0000
20:59022843:A:AG	acceptor_gain	1.0000
20:59022844:G:GT	acceptor_gain	1.0000
20:59022844:GTT:G	acceptor_gain	1.0000
20:59022844:GTTC:G	acceptor_gain	1.0000
20:59022844:GTTCT:G	acceptor_gain	1.0000
20:59023486:A:AG	acceptor_gain	1.0000
20:59023486:ACAG:A	acceptor_gain	1.0000
20:59023487:C:G	acceptor_gain	1.0000
20:59023487:CA:C	acceptor_loss	1.0000
20:59023488:A:AC	acceptor_loss	1.0000
20:59023488:A:AG	acceptor_gain	1.0000
20:59023489:G:GA	acceptor_loss	1.0000
20:59023489:G:GC	acceptor_gain	1.0000
20:59023489:GGT:G	acceptor_gain	1.0000
20:59023489:GGTA:G	acceptor_gain	1.0000
20:59023696:T:A	acceptor_gain	1.0000
20:59023697:G:A	acceptor_gain	1.0000
20:59023699:CCACA:C	acceptor_loss	1.0000
20:59023702:CA:C	acceptor_loss	1.0000
20:59023704:G:A	acceptor_loss	1.0000
20:59023704:GGTA:G	acceptor_gain	1.0000
20:59019577:AAGGT:A	donor_loss	0.9900
20:59019578:AG:A	donor_gain	0.9900
20:59019579:GG:G	donor_gain	0.9900
20:59019580:G:GG	donor_gain	0.9900
20:59021006:T:TA	acceptor_gain	0.9900
20:59022836:T:A	acceptor_gain	0.9900
20:59022844:GT:G	acceptor_gain	0.9900

AlphaMissense

3018 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:59023728:T:A	W101R	0.999
20:59023728:T:C	W101R	0.999
20:59023732:C:A	A102D	0.999
20:59023737:G:C	G104R	0.999
20:59023738:G:A	G104D	0.999
20:59023863:G:T	G146W	0.999
20:59023864:G:A	G146E	0.999
20:59024607:T:C	F394L	0.999
20:59024609:T:A	F394L	0.999
20:59024609:T:G	F394L	0.999
20:59023730:G:C	W101C	0.998
20:59023730:G:T	W101C	0.998
20:59023858:G:A	G144D	0.998
20:59023864:G:T	G146V	0.998
20:59023979:C:A	N184K	0.998
20:59023979:C:G	N184K	0.998
20:59019551:G:A	G10D	0.997
20:59019551:G:T	G10V	0.997
20:59019560:G:A	G13D	0.997
20:59019560:G:T	G13V	0.997
20:59023752:G:A	G109R	0.997
20:59023752:G:C	G109R	0.997
20:59023821:G:C	G132R	0.997
20:59023852:G:A	G142D	0.997
20:59023863:G:A	G146R	0.997
20:59023863:G:C	G146R	0.997
20:59023869:G:C	G148R	0.997
20:59023974:T:G	Y183D	0.997
20:59023980:G:C	A185P	0.997
20:59022848:T:A	W21R	0.996

dbSNP variants (sampled 300 via entrez): RS1000020960 (20:59015588 G>A,T), RS1000257414 (20:59014842 C>T), RS1000751472 (20:59018004 T>A,C), RS1001121365 (20:59015979 G>A), RS1001121648 (20:59019747 A>G), RS1001538348 (20:59019431 A>G), RS1001791263 (20:59022262 G>C), RS1001991832 (20:59026039 G>A,C), RS1002043250 (20:59019359 C>G), RS1002098405 (20:59024886 T>C), RS1002152891 (20:59020769 C>G), RS1003193909 (20:59023412 ATCACAAAG>A), RS1003485218 (20:59014612 C>A,G,T), RS1003595345 (20:59017804 G>A), RS1004115853 (20:59020729 A>C)

Disease associations

OMIM: gene MIM:612901 | disease phenotypes: MIM:613112, MIM:153640, MIM:155100, MIM:600208, MIM:605249

GenCC curated gene-disease

Disease	Classification	Inheritance
macrothrombocytopenia, isolated, 1, autosomal dominant	Definitive	Autosomal dominant
autosomal dominant macrothrombocytopenia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
macrothrombocytopenia, isolated, 1, autosomal dominant	Definitive	AD

Mondo (5): macrothrombocytopenia, isolated, 1, autosomal dominant (MONDO:0800047), macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MONDO:0015912), congenital hypothyroidism (MONDO:0018612), thrombocytopenia (MONDO:0002049), autosomal dominant macrothrombocytopenia (MONDO:0015372)

Orphanet (7): Autosomal dominant macrothrombocytopenia (Orphanet:140957), MYH9-related syndromic thrombocytopenia (Orphanet:182050), Congenital hypothyroidism (Orphanet:442), Epstein syndrome (Orphanet:1019), Fechtner syndrome (Orphanet:1984), Sebastian syndrome (Orphanet:807), May-Hegglin thrombocytopenia (Orphanet:850)

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000421	Epistaxis
HP:0000978	Bruising susceptibility
HP:0001873	Thrombocytopenia
HP:0003540	Impaired platelet aggregation
HP:0003577	Congenital onset
HP:0004846	Prolonged bleeding after surgery
HP:0006298	Prolonged bleeding after dental extraction
HP:0011877	Increased mean platelet volume
HP:0032438	Platelet anisocytosis
HP:0040185	Macrothrombocytopenia
HP:0100608	Metrorrhagia

GWAS associations

40 associations (top):

Study	Trait	p-value
GCST001335_4	Mean platelet volume	1.000000e-09
GCST004599_216	Mean platelet volume	7.000000e-57
GCST004599_217	Mean platelet volume	8.000000e-36
GCST004603_284	Platelet count	1.000000e-25
GCST004603_285	Platelet count	3.000000e-27
GCST004603_286	Platelet count	3.000000e-30
GCST004607_185	Plateletcrit	8.000000e-62
GCST004611_166	High light scatter reticulocyte count	5.000000e-11
GCST004612_186	High light scatter reticulocyte percentage of red cells	3.000000e-09
GCST004616_158	Platelet distribution width	2.000000e-09
GCST004616_159	Platelet distribution width	1.000000e-13
GCST004616_160	Platelet distribution width	3.000000e-34
GCST004616_161	Platelet distribution width	1.000000e-134
GCST004616_162	Platelet distribution width	8.000000e-21
GCST004619_193	Reticulocyte fraction of red cells	4.000000e-09
GCST004622_93	Reticulocyte count	1.000000e-11
GCST005991_49	Platelet count	5.000000e-15
GCST008047_9	Platelet count	9.000000e-09
GCST009465_4	Platelet count	1.000000e-09
GCST010083_319	Hemoglobin levels	6.000000e-12
GCST90002385_569	High light scatter reticulocyte count	7.000000e-24
GCST90002386_524	High light scatter reticulocyte percentage of red cells	4.000000e-19
GCST90002395_607	Mean platelet volume	1.000000e-116
GCST90002395_608	Mean platelet volume	5.000000e-140
GCST90002395_609	Mean platelet volume	1.000000e-73
GCST90002400_305	Plateletcrit	8.000000e-228
GCST90002400_306	Plateletcrit	8.000000e-24
GCST90002401_326	Platelet distribution width	6.000000e-125
GCST90002401_329	Platelet distribution width	3.000000e-15
GCST90002401_330	Platelet distribution width	0.000000e+00

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0007986	reticulocyte count
EFO:0007984	platelet component distribution width
EFO:0004509	hemoglobin measurement
EFO:0004305	erythrocyte count

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D003409	Congenital Hypothyroidism	C05.116.099.343.347; C05.116.132.256; C16.320.240.625; C19.297.155; C19.874.482.281
D013921	Thrombocytopenia	C15.378.140.855; C15.378.243.937
C537831	Macrothrombocytopenia progressive deafness (supp.)
C567747	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (4): CHEMBL1915 (SINGLE PROTEIN), CHEMBL2095182 (PROTEIN COMPLEX GROUP), CHEMBL3832942 (PROTEIN FAMILY), CHEMBL6066847 (PROTEIN-PROTEIN INTERACTION)

Molecules with ChEMBL bioactivity

22 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,612,843 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL107	COLCHICINE	4	93,932
CHEMBL159	VINBLASTINE	4	412,636
CHEMBL33	LEVOFLOXACIN ANHYDROUS	4	43,403
CHEMBL3545252	DOCETAXEL	4	1,009
CHEMBL364713	NOSCAPINE	4	14,987
CHEMBL378544	VINBLASTINE SULFATE	4	32,829
CHEMBL428647	PACLITAXEL	4	332,542
CHEMBL5315124	LEVOFLOXACIN	4	189
CHEMBL553025	VINORELBINE	4	142,159
CHEMBL571546	TIRBANIBULIN	4	1,192
CHEMBL61	PODOFILOX	4	37,640
CHEMBL90555	VINCRISTINE	4	268,031
CHEMBL92	DOCETAXEL ANHYDROUS	4	196,686
CHEMBL94657	PATUPILONE	3	14,934
CHEMBL182319	TALTOBULIN	2	691
CHEMBL20684	ABT-751	2	2,238
CHEMBL292702	MAYTANSINE	2	9,300
CHEMBL39541	DOLASTATIN-10	2	1,380
CHEMBL49642	INDIBULIN	2	963
CHEMBL528271	PARBENDAZOLE	2	6,102
CHEMBL9514	NOCODAZOLE	2
CHEMBL246600	COMBRETASTATIN	1

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10485828	Other	3	anastrozole;exemestane	Breast Neoplasms

PharmGKB variants

5 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs463312	TUBB1		0.00	0
rs10485828	ATP5F1E, TUBB1	3	0.00	1	anastrozole;exemestane
rs151349	TUBB1		0.00	0
rs6070697	TUBB1		0.00	0
rs151352	ATP5F1E, TUBB1		0.00	0

ChEMBL bioactivities

1226 potent at pChembl≥5 of 1389 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.26	IC50	0.0551	nM	CHEMBL5194719
9.75	IC50	0.176	nM	CHEMBL5203711
9.51	IC50	0.308	nM	VINORELBINE
9.30	IC50	0.5	nM	DOLASTATIN-10
8.92	IC50	1.2	nM	CHEMBL5169466
8.85	IC50	1.4	nM	CHEMBL4575066
8.74	IC50	1.8	nM	PATUPILONE
8.59	IC50	2.6	nM	CHEMBL2024544
8.52	Ki	3	nM	COMBRETASTATIN A4
8.52	IC50	3	nM	COMBRETASTATIN A4
8.52	IC50	3	nM	DOLASTATIN-10
8.52	Kd	3	nM	CHEMBL5410715
8.52	IC50	3	nM	COLCHICINE
8.46	IC50	3.5	nM	PATUPILONE
8.38	IC50	4.2	nM	CHEMBL5197739
8.27	IC50	5.4	nM	CHEMBL5280519
8.22	IC50	6	nM	CHEMBL498271
8.05	EC50	9	nM	COMBRETASTATIN A4
8.01	EC50	9.8	nM	COMBRETASTATIN A4
8.01	IC50	9.77	nM	CHEMBL4778826
8.00	Ki	10	nM	CHEMBL381852
8.00	IC50	10	nM	CHEMBL204241
7.96	Kd	11	nM	CHEMBL5611905
7.89	IC50	12.9	nM	COMBRETASTATIN A4
7.85	Kd	14	nM	MAYTANSINE
7.70	IC50	20	nM	CHEMBL2369093
7.70	Ki	20	nM	CHEMBL369927
7.70	IC50	20	nM	CHEMBL5183440
7.70	Kd	20	nM	CHEMBL5613121
7.67	Kd	21.5	nM	CHEMBL4797381
7.64	IC50	23	nM	COMBRETASTATIN A4
7.62	EC50	24	nM	CHEMBL4250191
7.60	IC50	25	nM	CHEMBL552462
7.52	IC50	30	nM	CHEMBL381122
7.52	IC50	30	nM	COMBRETASTATIN A4
7.52	IC50	30	nM	CHEMBL203062
7.52	IC50	30	nM	CHEMBL204710
7.51	EC50	31	nM	PACLITAXEL
7.43	Kd	36.9	nM	CHEMBL4756812
7.40	EC50	40	nM	CHEMBL1688184
7.35	EC50	45	nM	CHEMBL4239716
7.34	IC50	46	nM	CHEMBL374257
7.33	Kd	47	nM	CHEMBL5542101
7.30	Ki	50	nM	CHEMBL196966
7.30	EC50	50	nM	CHEMBL1688183
7.30	EC50	50	nM	CHEMBL1688189
7.29	Kd	51	nM	CHEMBL5614306
7.28	EC50	53	nM	CHEMBL4241638
7.24	Kd	58	nM	COLCHICINE
7.22	Ki	60	nM	CHEMBL198522

PubChem BioAssay actives

1155 with measured affinity, of 6069 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(Z)-1-[4-bromo-2-(4-fluorophenyl)-1-benzofuran-7-yl]-3-(4-methoxyphenyl)prop-2-en-1-one	1882651: Inhibition of tubulin polymerization (unknown origin) measured every 3 secs for 1 hr by spectroflourimetric analysis	ic50	0.0001	uM
(Z)-1-[4-bromo-2-(4-fluorophenyl)-1-benzofuran-7-yl]-3-[4-(trifluoromethoxy)phenyl]prop-2-en-1-one	1882651: Inhibition of tubulin polymerization (unknown origin) measured every 3 secs for 1 hr by spectroflourimetric analysis	ic50	0.0002	uM
Vinorelbine	1993632: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0003	uM
(2S)-2-[[(2S)-2-(dimethylamino)-3-methylbutanoyl]amino]-N-[(3R,4S,5S)-3-methoxy-1-[(2S)-2-[(1R,2R)-1-methoxy-2-methyl-3-oxo-3-[[(1S)-2-phenyl-1-(1,3-thiazol-2-yl)ethyl]amino]propyl]pyrrolidin-1-yl]-5-methyl-1-oxoheptan-4-yl]-N,3-dimethylbutanamide	270819: Inhibition of tubulin polymerization	ic50	0.0005	uM
(2S)-2-[[(2S)-2-(dimethylamino)-3-methylbutanoyl]amino]-N-[(3R,4S,5S)-3-methoxy-1-[(2S)-2-[(1R,2R)-1-methoxy-2-methyl-3-oxo-3-(2-pyridin-2-ylethylamino)propyl]pyrrolidin-1-yl]-5-methyl-1-oxoheptan-4-yl]-N,3-dimethylbutanamide	1896115: Binding affinity to tubulin (unknown origin)	ic50	0.0012	uM
(3Z,6Z)-3-[(5-tert-butyl-1H-imidazol-4-yl)methylidene]-6-phenacylidenepiperazine-2,5-dione	1587857: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0014	uM
(3Z,6Z)-3-[(5-tert-butyl-1H-imidazol-4-yl)methylidene]-6-[(2,5-difluorophenyl)methylidene]piperazine-2,5-dione	1587857: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0026	uM
3-hydroxy-2-[N-[2-(methoxymethyl)-1-benzofuran-7-yl]-C-methylcarbonimidoyl]-5-phenylcyclohex-2-en-1-one	2034736: Displacement of fluorescent probe (R)-(+)-ethyl 5-amino2-methyl-1,2-dihydro-3-phenylpyrido[3,4-b]pyrazin-7-ylcarbamate from tubulin colchicine binding site (unknown origin) assessed as dissociation constant	kd	0.0030	uM
2-methoxy-5-[(Z)-2-(3,4,5-trimethoxyphenyl)ethenyl]phenol	1862628: Inhibition of tubulin polymerization in human HeLa cells assessed as microtubule network polymerization after 30 mins by immunofluorescence analysis	ic50	0.0030	uM
Colchicine	2074087: Inhibition of microtubule polymerization in human K562 cells measured for 60 mins by fluorescence based analysis	ic50	0.0030	uM
(1S,3S,7S,10R,11S,12S,16R)-7,11-dihydroxy-8,8,10,12,16-pentamethyl-3-[(E)-1-(2-methyl-1,3-thiazol-4-yl)prop-1-en-2-yl]-4,17-dioxabicyclo[14.1.0]heptadecane-5,9-dione	1408257: Inhibition of tubulin polymerization in human MCF7 cells assessed as induction of mitotic arrest	ic50	0.0035	uM
tert-butyl (3R,4S,5S)-4-[[(2S)-2-[[(2S)-2-(dimethylamino)-3-methylbutanoyl]amino]-3-methylbutanoyl]-methylamino]-3-methoxy-5-methylheptanoate	1896110: Inhibition of tubulin (unknown origin) polymerization assessed as reduction in microtubule formation measured for 20 mins by spectrophotometric analysis	ic50	0.0042	uM
3-methoxy-6-[4-(3,4,5-trimethoxyphenyl)-1H-pyrazol-5-yl]benzene-1,2-diol	1929685: Inhibition of tubulin polymerization in human SH-SY5Y cells incubated for 24 hrs by SDS-PAGE based analysis	ic50	0.0054	uM
2-methoxy-5-[1-(3,4,5-trimethoxyphenyl)ethenyl]phenol	1862628: Inhibition of tubulin polymerization in human HeLa cells assessed as microtubule network polymerization after 30 mins by immunofluorescence analysis	ic50	0.0060	uM
(E)-1-[1-(4-chlorophenyl)-5-methyltriazol-4-yl]-3-(3,4-dimethoxyphenyl)prop-2-en-1-one	1689700: Inhibition of Tubulin in human RPMI-8226 cells incubated for 2 hrs by ELISA	ic50	0.0098	uM
N-(1,3-benzodioxol-5-yl)-5-[2-(3,5-dimethoxyphenoxy)-3-pyridinyl]-1H-1,2,4-triazol-3-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0100	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[2-(pyridin-2-ylmethylamino)phenyl]-1,3-oxazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0100	uM
[(1S,2R,3S,5R,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] acetate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0110	uM
[(1S,2R,3S,5S,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] (2S)-2-[acetyl(methyl)amino]propanoate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0140	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[2-(3,5-dimethoxyphenoxy)-3-pyridinyl]-1H-1,2,4-triazol-3-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0200	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-(1-diethoxyphosphorylhexylcarbamoyl)-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0200	uM
(E)-3-[5-[(2-cyanoquinolin-4-yl)-methylamino]-2-methoxyphenyl]-N-hydroxyprop-2-enamide	1862628: Inhibition of tubulin polymerization in human HeLa cells assessed as microtubule network polymerization after 30 mins by immunofluorescence analysis	ic50	0.0200	uM
[(1S,2R,3S,5R,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] hept-6-ynoate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0200	uM
(3S)-3-[(5R)-6-[[1-(4-fluorophenyl)triazol-4-yl]methyl]-4-methoxy-7,8-dihydro-5H-[1,3]dioxolo[4,5-g]isoquinolin-5-yl]-6,7-dimethoxy-3H-2-benzofuran-1-one	1675128: Binding affinity to CM5 chip immobilized beta tubulin (unknown origin) assessed as thermodynamic constants by SPR assay	kd	0.0215	uM
N-(4-methoxyphenyl)-N,5-dimethylfuro[2,3-d]pyrimidin-4-amine	1635267: Induction of microtubule depolymerization in human A10 cells incubated for 18 hrs by indirect immunofluorescence analysis	ec50	0.0240	uM
[4-amino-2-(4-methoxyanilino)-1,3-thiazol-5-yl]-(3,4-dimethoxyphenyl)methanone	1674862: Binding affinity to beta tubulin in HEK293 cells assessed as disruption of microtubule polymerization by ITDRF-CETSA assay	ic50	0.0250	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[2-(pyridin-3-ylmethylamino)-3-pyridinyl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0300	uM
N-(1,3-benzodioxol-5-yl)-5-[2-(pyridin-4-ylmethylamino)-3-pyridinyl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0300	uM
N-(1,3-benzodioxol-5-yl)-5-[2-(pyridin-2-ylmethylamino)-3-pyridinyl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0300	uM
Paclitaxel	260235: Effect on induction of mitotic arrest by phosphohistone H3 (pH3) assay	ec50	0.0310	uM
(3S)-3-[(5R)-9-bromo-6-[[1-(4-bromophenyl)triazol-4-yl]methyl]-4-methoxy-7,8-dihydro-5H-[1,3]dioxolo[4,5-g]isoquinolin-5-yl]-6,7-dimethoxy-3H-2-benzofuran-1-one	1675128: Binding affinity to CM5 chip immobilized beta tubulin (unknown origin) assessed as thermodynamic constants by SPR assay	kd	0.0369	uM
6-(3-chloro-6,11,11-trioxobenzo[b][1,4]benzothiazepin-5-yl)-N-hydroxyhexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0400	uM
N,5-dimethyl-N-(4-methylsulfanylphenyl)furo[2,3-d]pyrimidin-4-amine	1635267: Induction of microtubule depolymerization in human A10 cells incubated for 18 hrs by indirect immunofluorescence analysis	ec50	0.0450	uM
[7-(3-hydroxyprop-1-ynyl)-6-methoxy-2H-indazol-3-yl]-(3,4,5-trimethoxyphenyl)methanone	280080: Displacement of [3H]colchicine from tubulin in MCF7 cells	ic50	0.0460	uM
(3S,10R,13E,16S)-10-[(3-chloro-4-methoxyphenyl)methyl]-6,6-dimethyl-3-(2-methylpropyl)-16-[(1S)-1-[(2R,3S)-3-phenyloxiran-2-yl]ethyl]-1,4-dioxa-8,11-diazacyclohexadec-13-ene-2,5,9,12-tetrone	2061859: Binding affinity to tubulin (unknown origin) assessed as dissociation constant by SPR analysis	kd	0.0470	uM
N-hydroxy-6-(3-methoxy-6,11,11-trioxobenzo[b][1,4]benzothiazepin-5-yl)hexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0500	uM
N-hydroxy-6-(6,11,11-trioxobenzo[b][1,4]benzothiazepin-5-yl)hexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0500	uM
5-[2-(3,5-dimethoxyphenoxy)-3-pyridinyl]-N-(3-methoxyphenyl)-1H-1,2,4-triazol-3-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0500	uM
[(1S,2R,3S,5R,6S,16E,18E,20R,21S)-11-chloro-21-hydroxy-12,20-dimethoxy-2,5,9,16-tetramethyl-8,23-dioxo-4,24-dioxa-9,22-diazatetracyclo[19.3.1.110,14.03,5]hexacosa-10,12,14(26),16,18-pentaen-6-yl] benzoate	2126113: Displacement of fluorescent Maytansine probe from tubulin (unknown origin) assessed as dissociation constant by competitive binding based fluorescence anisotropy	kd	0.0510	uM
N-ethyl-N-(4-methoxyphenyl)-5-methylfuro[2,3-d]pyrimidin-4-amine	1635267: Induction of microtubule depolymerization in human A10 cells incubated for 18 hrs by indirect immunofluorescence analysis	ec50	0.0530	uM
3-[3-(1,3-benzodioxol-5-ylamino)-1H-1,2,4-triazol-5-yl]-N-(3,5-dimethoxyphenyl)pyridin-2-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.0600	uM
Vinblastine	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0700	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-[(1-diethoxyphosphoryl-2-phenylethyl)carbamoyl]-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0700	uM
N-(2,3-dihydro-1,4-benzodioxin-6-yl)-5-[3-(pyridin-2-ylmethylamino)thiophen-2-yl]-1,3,4-oxadiazol-2-amine	261214: Displacement of [3H]colchicine from tubulin at 65 nM	ic50	0.0750	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-[[(1S)-1-diethoxyphosphorylethyl]carbamoyl]-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.0800	uM
4-methoxy-2-[(Z)-2-(3,4,5-trimethoxyphenyl)ethenyl]thiophene	1267532: Inhibition of Tubulin polymerization in human HeLa cells assessed as decrease in dynamic tyrosinated microtubules after 2 hrs by microplate reader analysis	ec50	0.0810	uM
N-[2-[[(E)-(2,4-dihydroxyphenyl)methylideneamino]carbamoyl]phenyl]furan-2-carboxamide	1882654: Inhibition of tubulin polymerization (unknown origin)	ic50	0.0876	uM
N-hydroxy-6-(3-methoxy-6-oxobenzo[b][1,4]benzoxazepin-5-yl)hexanamide	580932: Inhibition of HDAC activity in human NB4 cells assessed as acetylated tubulin after 24 hrs by Western blot analysis	ec50	0.0900	uM
N-(3,5-dimethoxyphenyl)-3-[3-(3-methoxyanilino)-1H-1,2,4-triazol-5-yl]pyridin-2-amine	256882: Displacement of [3H]colchicine from tubulin	ki	0.1000	uM
methyl (13S,15S,17S)-13-[(1R,9R,10S,11R,12R,19R)-10-[[(1R)-1-diethoxyphosphoryl-2-(1H-indol-3-yl)ethyl]carbamoyl]-12-ethyl-10,11-dihydroxy-5-methoxy-8-methyl-8,16-diazapentacyclo[10.6.1.01,9.02,7.016,19]nonadeca-2,4,6,13-tetraen-4-yl]-17-ethyl-17-hydroxy-1,11-diazatetracyclo[13.3.1.04,12.05,10]nonadeca-4(12),5,7,9-tetraene-13-carboxylate	214333: The compound tested for the inhibition of tubulin polymerization.	ic50	0.1000	uM

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, decreases expression	3
Estradiol	increases expression, decreases expression	3
Cyclosporine	decreases expression	3
bisphenol A	affects expression, decreases methylation	2
(+)-JQ1 compound	decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
aristolochic acid I	increases expression	1
OTX015	decreases expression	1
mivebresib	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
sulforaphane	affects binding	1
sodium arsenite	decreases expression	1
ochratoxin A	decreases expression	1
triphenyltin	increases expression	1
resorcinol	increases expression	1
phenethyl isothiocyanate	affects binding	1
tributyltinisothiocyanate	increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Rosiglitazone	affects expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ampicillin	increases expression	1
Arsenic	affects methylation	1
Azathioprine	decreases expression	1
Folic Acid	increases expression	1
Ivermectin	decreases expression	1
Niclosamide	decreases expression	1

ChEMBL screening assays

1765 unique, capped per target: 1723 binding, 36 functional, 6 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL812703	Functional	Ratio of ED50 of compound to that of ED50 of paclitaxel; ED50 expressed as concentration which causes polymerization of 50% of the tubulin in microtubule assembly assay (in vitro)	Butitaxel analogues: synthesis and structure-activity relationships. — J Med Chem
CHEMBL832453	Binding	Concentration required for 50% inhibition of tubulin polymerization	Quantitative structure-activity relationship (5D-QSAR) study of combretastatin-like analogues as inhibitors of tubulin assembly. — J Med Chem
CHEMBL4146506	ADMET	Inhibition of tubulin polymerization in human HaCaT cells assessed as chromatin condensation at 1 uM after 24 hrs by Hoechst 33258 staining-based fluorescence microscopic analysis	Design, synthesis, and biological evaluation of novel combretastatin A-4 thio derivatives as microtubule targeting agents. — Eur J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TV16	HAP1 TUBB1 (-) 1	Cancer cell line	Male
CVCL_TV17	HAP1 TUBB1 (-) 2	Cancer cell line	Male
CVCL_TV18	HAP1 TUBB1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

267 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05228184	PHASE4	TERMINATED	Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH)
NCT05371262	PHASE4	COMPLETED	Influence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital Hypothyroidism
NCT00039858	PHASE4	COMPLETED	Evaluation of Argatroban Injection in Pediatric Patients Requiring Anticoagulant Alternatives to Heparin
NCT00239733	PHASE4	TERMINATED	Anti-D for Treating Thrombocytopenia in Adults Infected With Hepatitis C Virus With or Without HIV Co-Infection
NCT00907478	PHASE4	COMPLETED	Study on Bone Marrow Morphology in Adults Receiving Romiplostim for Treatment of Thrombocytopenia Associated With Immune Thrombocytopenia Purpura (ITP)
NCT01727401	PHASE4	TERMINATED	Thromboprophylaxis of Venous Thromboembolism in Acutely-ill Medical Inpatients With Thrombocytopenia
NCT02032134	PHASE4	TERMINATED	Protocol for the Infusion of Buffy Coat-derived Cryopreserved Platelets in Patients With Severe Thrombocytopenia
NCT02267993	PHASE4	COMPLETED	Efficacy and Safety of rhTPO for the Treatment of Thrombocytopenia After Chemotherapy in AML Patients
NCT03633019	PHASE4	UNKNOWN	High-dose Use of rhTPO in CIT Patients
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04906083	PHASE4	UNKNOWN	Avatrombopag in Patients With End-stage Liver Disease and Thrombocytopenia
NCT05217719	PHASE4	UNKNOWN	Effects of Recombinant Human Thrombopoietin on Platelet Levels in ICU Patients
NCT05255003	PHASE4	RECRUITING	STrategies for Anticoagulation in Patients With thRombocytopenia and Cancer-associated Thrombosis
NCT05382013	PHASE4	UNKNOWN	Efficacy and Safety of Avatrombopag for Treating TCP in HBV-ACLF Patients Receiving ALSS Treatment
NCT05944458	PHASE4	COMPLETED	Efficacy of Intravenous N-Acetylcysteine in Preventing Linezolid-Induced Thrombocytopenia in Critically Ill Patients
NCT06562738	PHASE4	RECRUITING	Clinical Study on Efficacy and Safety of Hetrombopag in the Preoperative Patients of Thrombocytopenia
NCT02242656	PHASE3	WITHDRAWN	A Phase III Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Investigational Product MP-101 in Subjects With Short Bowel Syndrome Who Have Had an Inadequate Response to Anti-Diarrheals
NCT02246816	PHASE3	WITHDRAWN	A Open Label Extension Study for Subjects That Complete Study MP-101-CL-001
NCT00037791	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00039910	PHASE3	COMPLETED	Safety and Efficacy of (PN-152,243)/PN-196,444 in the Prevention of Thrombocytopenia
NCT00073580	PHASE3	COMPLETED	Angiomax in Patients With HIT/HITTS Type II Undergoing Off-Pump Coronary Artery Bypass Grafting (CABG) (CHOOSE)
NCT00102323	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Refractory to Splenectomy
NCT00102336	PHASE3	COMPLETED	AMG 531 Treatment of Thrombocytopenic Subjects With Immune (Idiopathic) Thrombocytopenic Purpura (ITP) Prior to Splenectomy
NCT00116688	PHASE3	COMPLETED	Open Label Extension Study of Romiplostim (AMG 531) in Thrombocytopenic Patients With Immune (Idiopathic) Thrombocytopenic Purpura (ITP)
NCT00128713	PHASE3	COMPLETED	Optimal Platelet Dose Strategy for Management of Thrombocytopenia
NCT00151866	PHASE3	COMPLETED	Efficacy of Transfusions With Platelets Stored in Platelet Additive Solution II Versus Plasma
NCT00261924	PHASE3	COMPLETED	Efficacy and Safety Study of Platelets Treated for Pathogen Inactivation and Stored for Up to Seven Days
NCT00415532	PHASE3	COMPLETED	Romiplostim (AMG 531) Versus Medical Standard of Care for Immune (Idiopathic) Thrombocytopenic Purpura
NCT00420914	PHASE3	TERMINATED	Strategies for Transfusion of Platelets (SToP)
NCT00501345	PHASE3	TERMINATED	Aspirin in Patients With Myocardial Infarction and Thrombocytopenia
NCT00508820	PHASE3	COMPLETED	An Open Label Study of Romiplostim in Adult Thrombocytopenic Subjects With ITP
NCT00678587	PHASE3	TERMINATED	Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures
NCT01438840	PHASE3	COMPLETED	Efficacy and Safety of Oral E5501 Plus Standard of Care for the Treatment of Thrombocytopenia in Adults With Chronic Immune Thrombocytopenia (Amendment 02)
NCT01444417	PHASE3	COMPLETED	Safety and Efficacy Study of Romiplostim to Treat Immune Thrombocytopenia (ITP) in Pediatric Patients
NCT01805648	PHASE3	UNKNOWN	Efficacy and Safety Study of Maintenance Treatment With rhTPO in Thrombocytopenic Subjects With ITP
NCT02244658	PHASE3	UNKNOWN	Recombinant Human Thrombopoietin (rhTPO) in Management of Chemotherapy-induced Thrombocytopenia in Acute Myelocytic Leukemia
NCT02389621	PHASE3	COMPLETED	Safety and Efficacy Study of Lusutrombopag for Thrombocytopenia in Patients With Chronic Liver Disease Undergoing Elective Invasive Procedures
NCT02444728	PHASE3	TERMINATED	Cyclophosphamide and Hydroxychloroquine for Thrombocytopenia in SLE
NCT02487563	PHASE3	COMPLETED	Prospective Study of Patients With Thrombocytopenia Following HSCT
NCT02578901	PHASE3	COMPLETED	American Trial Using Tranexamic Acid in Thrombocytopenia