MYO1B

Summary

MYO1B (myosin IB, HGNC:7596) is a protein-coding gene on chromosome 2q32.3, encoding Unconventional myosin-Ib (O43795). Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport.

Enables ATP binding activity; actin filament binding activity; and microfilament motor activity. Involved in actin filament organization and post-Golgi vesicle-mediated transport. Located in several cellular components, including actin filament; endosome; and trans-Golgi network membrane.

Source: NCBI Gene 4430 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 151 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001130158

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7596
Approved symbol	MYO1B
Name	myosin IB
Location	2q32.3
Locus type	gene with protein product
Status	Approved
Aliases	myr1
Ensembl gene	ENSG00000128641
Ensembl biotype	protein_coding
OMIM	606537
Entrez	4430

Gene structure

Transcript identifiers

Ensembl transcripts: 50 — 45 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000304164, ENST00000339514, ENST00000392316, ENST00000392318, ENST00000418908, ENST00000420448, ENST00000427152, ENST00000438652, ENST00000451437, ENST00000461714, ENST00000471904, ENST00000490069, ENST00000494129, ENST00000496992, ENST00000634375, ENST00000906657, ENST00000906658, ENST00000906659, ENST00000906660, ENST00000906661, ENST00000906662, ENST00000906663, ENST00000906664, ENST00000906665, ENST00000906666, ENST00000906667, ENST00000906668, ENST00000906669, ENST00000906670, ENST00000906671, ENST00000906672, ENST00000906673, ENST00000906674, ENST00000906675, ENST00000906676, ENST00000940473, ENST00000940474, ENST00000940475, ENST00000940476, ENST00000940477, ENST00000940478, ENST00000940479, ENST00000940480, ENST00000940481, ENST00000940482, ENST00000940483, ENST00000955851, ENST00000955852, ENST00000955853, ENST00000955854

RefSeq mRNA: 5 — MANE Select: NM_001130158 NM_001130158, NM_001161819, NM_001330237, NM_001330238, NM_012223

CCDS: CCDS2311, CCDS46477, CCDS82546

Canonical transcript exons

ENST00000392318 — 31 exons

Exon	Start	End
ENSE00000783996	191396429	191396497
ENSE00000934494	191400382	191400468
ENSE00001869231	191245404	191245626
ENSE00001876494	191423837	191425386
ENSE00002223943	191369542	191369628
ENSE00002226466	191392108	191392201
ENSE00002240992	191364158	191364276
ENSE00002249411	191390292	191390492
ENSE00002276165	191362268	191362371
ENSE00002280462	191363728	191363875
ENSE00002289193	191387224	191387450
ENSE00002304370	191350162	191350225
ENSE00002311988	191370227	191370292
ENSE00002315505	191360631	191360729
ENSE00002430207	191400749	191400835
ENSE00002517728	191402632	191402718
ENSE00003466615	191408115	191408189
ENSE00003487732	191383280	191383342
ENSE00003510312	191276887	191277030
ENSE00003520236	191329935	191330029
ENSE00003548102	191381462	191381566
ENSE00003559474	191414517	191414669
ENSE00003565598	191393073	191393222
ENSE00003569495	191409044	191409178
ENSE00003588086	191341461	191341565
ENSE00003596157	191346236	191346282
ENSE00003623433	191414048	191414180
ENSE00003634418	191385884	191386084
ENSE00003634865	191411066	191411172
ENSE00003674955	191416115	191416242
ENSE00003788777	191296111	191296226

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 98.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.7419 / max 1243.7239, expressed in 1559 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24345	57.9605	1542
24346	8.3326	1406
24347	1.8514	924
24350	0.4326	74
24354	0.2788	114
24362	0.2583	93
24353	0.1701	13
24351	0.1618	22
24361	0.1314	46
24349	0.0779	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	98.03	gold quality
visceral pleura	UBERON:0002401	97.86	gold quality
liver	UBERON:0002107	97.29	gold quality
right lobe of liver	UBERON:0001114	97.25	gold quality
islet of Langerhans	UBERON:0000006	96.98	gold quality
lower lobe of lung	UBERON:0008949	96.97	gold quality
right lung	UBERON:0002167	96.38	gold quality
lung	UBERON:0002048	96.27	gold quality
hair follicle	UBERON:0002073	96.21	gold quality
pleura	UBERON:0000977	96.18	gold quality
stromal cell of endometrium	CL:0002255	96.13	gold quality
tibia	UBERON:0000979	95.89	gold quality
parietal pleura	UBERON:0002400	95.63	gold quality
upper lobe of lung	UBERON:0008948	95.53	gold quality
upper lobe of left lung	UBERON:0008952	95.40	gold quality
pancreas	UBERON:0001264	95.35	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.34	gold quality
calcaneal tendon	UBERON:0003701	95.32	gold quality
body of pancreas	UBERON:0001150	95.15	gold quality
sural nerve	UBERON:0015488	94.30	gold quality
renal glomerulus	UBERON:0000074	93.94	gold quality
cartilage tissue	UBERON:0002418	93.73	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.67	gold quality
colonic epithelium	UBERON:0000397	93.51	gold quality
metanephric glomerulus	UBERON:0004736	93.51	gold quality
colonic mucosa	UBERON:0000317	93.20	gold quality
gingival epithelium	UBERON:0001949	92.99	gold quality
bronchial epithelial cell	CL:0002328	92.93	gold quality
corpus epididymis	UBERON:0004359	92.78	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.75	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	1601.82
E-CURD-119	yes	37.72
E-HCAD-11	yes	18.94
E-MTAB-8410	yes	18.46
E-CURD-112	yes	14.67
E-GEOD-84465	yes	8.21
E-HCAD-35	yes	7.72
E-GEOD-93593	yes	7.10
E-GEOD-130148	yes	5.51
E-MTAB-6678	no	3.66
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting MYO1B, 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-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524

Literature-anchored findings (GeneRIF, showing 19)

• At apical surfaces of supporting cells that surround hair cells in auditory epithelia of postnatal rats. In vestibular epithelia, present in ring within apical pole of hair cell. Expression was prominent only immediately after birth. (PMID:12486594)
• observations suggest that myosin 1b controls the traffic of protein cargo in multivesicular endosomes most probably through its ability to modulate with actin the morphology of these sorting endosomes (PMID:16219689)
• Sensing molecular tension is crucial for a wide array of cellular processes. Myosin I dramatically alters its motile properties in response to tension. (PMID:18599791)
• Actin and myosin 1 regulate organelle shape and uncover an important function for myosin 1b in the initiation of post-Golgi carrier formation by regulating actin assembly and remodelling trans-Golgi network membranes. (PMID:21666684)
• Myosin 1b catch-bond properties facilitate tube extraction under conditions of increasing membrane tension by reducing the density of myo1b required to pull tubes. (PMID:24709651)
• Results showed that aberrant overexpression of Myo1b in human head and neck squamous cell carcinoma increased cancer cell motility via enhanced large protrusion formation of cell membrane and promotes lymph node metastasis. (PMID:25421751)
• Myosin 1 functions as an effector of EphB2/ephrinB signaling, controls cell morphology, and thereby cell repulsion. (PMID:26195670)
• the overexpression of miR-363 reduces cellular migration in head and neck cancer and reveal the biological relationship between miR-363, myosin 1b, and HPV-positive SCCHN. (PMID:26545583)
• Identify MTO1b as a novel pericyte marker. (PMID:28088345)
• Data demonstrated that the passenger strand of miR145 acted as an antitumor miRNA through targeting MYO1B in HNSCC cells. The involvement of dual strands of premiR145 (miR1455p and miR1453p) in the regulation of HNSCC pathogenesis is a novel concept in present RNA research. (PMID:29115582)
• Data suggested a potential role of Myo1b in cervical carcinogenesis and tumor progression and provided novel insights into the mechanism of how this factor promotes cell proliferation, migration, and invasion in CC cells. (PMID:29395313)
• identify SRSF1 as an important oncodriver that integrates AS control of MYO1B into promotion of gliomagenesis and represents a potential prognostic biomarker and target for glioma therapy. (PMID:30481162)
• The authors report here the identification of a novel Toxoplasma effector protein that is exported from the parasitophorous vacuole in a MYR1-dependent manner and localizes to the host’s nucleus. Parasites lacking this inducer of host cyclin E (HCE1) are unable to modulate E2F transcription factor target genes, including cyclin E, and exhibit a substantial growth defect. (PMID:31040242)
• F-actin depolymerizes when sliding on immobilized Myo1b. (PMID:31729365)
• Targeting MYO1B impairs tumorigenesis via inhibiting the SNAI2/cyclin D1 signaling in esophageal squamous cell carcinoma. (PMID:35861939)
• Myo1b promotes tumor progression and angiogenesis by inhibiting autophagic degradation of HIF-1alpha in colorectal cancer. (PMID:36347835)
• Myo1b Promotes Premature Endothelial Senescence and Dysfunction via Suppressing Autophagy: Implications for Vascular Aging. (PMID:36654782)
• MYO1B as a prognostic biomarker and a therapeutic target in Arecoline-associated oral carcinoma. (PMID:37014156)
• CCND1-associated ceRNA network reveal the critical pathway of TPRG1-AS1-hsa-miR-363-3p-MYO1B as a prognostic marker for head and neck squamous cell carcinoma. (PMID:37481637)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myo1b	ENSDARG00000024694
mus_musculus	Myo1b	ENSMUSG00000018417
rattus_norvegicus	Myo1b	ENSRNOG00000048152

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Unconventional myosin-Ib — O43795 (reviewed: O43795)

Alternative names: MYH-1c, Myosin I alpha

All UniProt accessions (9): O43795, A0A0U1RRI3, B0I1S9, C9JUP5, C9JYW1, C9K0I9, E7EQD9, E9PDF6, H7C2Y7

UniProt curated annotations — full annotation on UniProt →

Function. Motor protein that may participate in process critical to neuronal development and function such as cell migration, neurite outgrowth and vesicular transport.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O43795-1	1	yes
O43795-2	2

RefSeq proteins (5): NP_001123630, NP_001155291, NP_001317166, NP_001317167, NP_036355 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR010926	Myosin_TH1	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036072	MYSc_Myo1	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF00612, PF06017

UniProt features (18 total): domain 8, sequence variant 3, cross-link 2, chain 1, binding site 1, modified residue 1, splice variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43795-F1	85.87	0.44

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 (1): 108–115

Post-translational modifications (3): 60, 287, 287

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 288 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, ATGTTAA_MIR302C, CDP_01, NKX62_Q2, SRF_C, GOCC_TRANS_GOLGI_NETWORK, BRN2_01, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, BROWNE_HCMV_INFECTION_14HR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN

GO Biological Process (5): post-Golgi vesicle-mediated transport (GO:0006892), endocytosis (GO:0006897), actin filament organization (GO:0007015), actin filament-based movement (GO:0030048), actin filament bundle assembly (GO:0051017)

GO Molecular Function (11): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), cadherin binding (GO:0045296), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (14): cytoplasm (GO:0005737), early endosome (GO:0005769), actin filament (GO:0005884), plasma membrane (GO:0005886), microvillus (GO:0005902), brush border (GO:0005903), endosome membrane (GO:0010008), actin cytoskeleton (GO:0015629), myosin complex (GO:0016459), filopodium (GO:0030175), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), cell periphery (GO:0071944), trans-Golgi network membrane (GO:0032588)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
phosphatidylinositol phosphate binding	2
endosome	2
actin cytoskeleton	2
actin-based cell projection	2
Golgi vesicle transport	1
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
actin filament-based process	1
cellular component assembly	1
actin filament bundle organization	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
phosphatidylinositol bisphosphate binding	1
anion binding	1
cell adhesion molecule binding	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
polymeric cytoskeletal fiber	1
membrane	1
cell periphery	1
actin filament bundle	1
microvillus	1
apical part of cell	1
cluster of actin-based cell projections	1
cytoplasmic vesicle membrane	1

Protein interactions and networks

STRING

1248 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYO1B	MYO1C	O00159	758
MYO1B	A0A0A6YYL4	A0A0A6YYL4	599
MYO1B	CALM1	P02593	551
MYO1B	CALML3	P27482	549
MYO1B	ACTN4	O43707	540
MYO1B	CALML4	Q96GE6	540
MYO1B	CALML6	Q8TD86	539
MYO1B	CALML5	Q9NZT1	539
MYO1B	CARMIL1	Q5VZK9	529
MYO1B	ARPC1B	O15143	506
MYO1B	ARHGEF10L	Q9HCE6	493
MYO1B	BAIAP2	Q9UQB8	461
MYO1B	MYO1D	O94832	455
MYO1B	ALPK1	Q96QP1	454
MYO1B	PTEN	P60484	451
MYO1B	ACTB	P02570	451

IntAct

191 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
POGZ	MYO1B	psi-mi:“MI:0915”(physical association)	0.560
MYO1B	SUOX	psi-mi:“MI:0915”(physical association)	0.560
DAPK1	MYO1B	psi-mi:“MI:0914”(association)	0.530
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
FOS	MYO1C	psi-mi:“MI:2364”(proximity)	0.480
ESR1		psi-mi:“MI:0914”(association)	0.460
CAT	NUDT19	psi-mi:“MI:0914”(association)	0.420
CADM2	MYO1B	psi-mi:“MI:0915”(physical association)	0.400
MYO1B	HSP90B1	psi-mi:“MI:0915”(physical association)	0.400
MYO1B		psi-mi:“MI:0915”(physical association)	0.400
MYO1B	H1-3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (402): MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Reconstituted Complex), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS), MYO1B (Affinity Capture-MS)

ESM2 similar proteins: A0JMK5, A6QLT2, A6QQZ7, O08586, O43242, O43795, O54857, O55236, O60733, O60942, P11029, P11497, P14685, P23727, P26450, P27986, P29074, P46735, P60483, P60484, P97570, P97819, Q05096, Q13085, Q13613, Q13614, Q15139, Q28559, Q2KJ46, Q52KU6, Q5BJZ6, Q5EB32, Q5F452, Q5R685, Q5R6F6, Q5R8Q7, Q5REB9, Q5SWU9, Q5T2T1, Q5U2Y3

Diamond homologs: A0MP03, A1C4A5, A1DBH2, A2R5J1, A3LYL7, A4RE77, A5DKH0, A5E4A8, A5PF48, A6SED8, A6ZMG6, A6ZZJ1, A7EK16, A7TDZ8, A8N2Y6, A8PWF6, B0CRJ3, B0I1T2, B0Y9Q4, D3ZJP6, E7F9L8, E9Q634, F1PRN2, F4HWY6, F4I5Q6, F4IUG9, F4IVR7, F4JM19, F4K5J1, K7U9N8, O00159, O00160, O43795, O88329, O94832, P0CP00, P0CP01, P10568, P10569, P19706

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EPHB2	“up-regulates activity”	MYO1B	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 184 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
Signaling by FLT3 ITD and TKD mutants	5	29.5×	4e-05
Constitutive Signaling by EGFRvIII	5	27.7×	5e-05
Signalling to RAS	5	26.0×	6e-05
Signaling by ERBB2 ECD mutants	5	26.0×	6e-05
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	6	24.1×	2e-05
Tie2 Signaling	5	23.3×	8e-05
SHC-mediated cascade:FGFR3	5	23.3×	8e-05
Signaling by FGFR3 in disease	6	23.1×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
cellular response to reactive oxygen species	5	12.5×	7e-03
protein autophosphorylation	12	10.6×	2e-06
cell surface receptor protein tyrosine kinase signaling pathway	9	9.5×	2e-04
insulin receptor signaling pathway	7	9.5×	3e-03
MAPK cascade	10	9.3×	1e-04
hematopoietic progenitor cell differentiation	6	8.7×	9e-03
actin cytoskeleton organization	12	5.8×	5e-04
positive regulation of angiogenesis	8	5.6×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	119
Likely benign	1
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
998148	NM_001130158.3(MYO1B):c.2775del (p.Lys925fs)	Pathogenic

SpliceAI

5356 predictions. Top by Δscore:

Variant	Effect	Δscore
2:191276882:T:TA	acceptor_gain	1.0000
2:191276882:TGCA:T	acceptor_loss	1.0000
2:191276884:CA:C	acceptor_loss	1.0000
2:191276885:A:AG	acceptor_gain	1.0000
2:191276885:AGCT:A	acceptor_gain	1.0000
2:191276885:AGCTG:A	acceptor_gain	1.0000
2:191276886:G:GC	acceptor_gain	1.0000
2:191276886:GC:G	acceptor_gain	1.0000
2:191276886:GCT:G	acceptor_gain	1.0000
2:191276886:GCTG:G	acceptor_gain	1.0000
2:191276886:GCTGG:G	acceptor_gain	1.0000
2:191277026:TATAC:T	donor_gain	1.0000
2:191277027:ATAC:A	donor_gain	1.0000
2:191277028:TAC:T	donor_gain	1.0000
2:191277029:AC:A	donor_gain	1.0000
2:191277030:CGTA:C	donor_loss	1.0000
2:191277031:G:C	donor_loss	1.0000
2:191277031:G:GG	donor_gain	1.0000
2:191277035:G:GG	donor_gain	1.0000
2:191296105:TTGCA:T	acceptor_loss	1.0000
2:191296108:CAGA:C	acceptor_loss	1.0000
2:191296109:A:AG	acceptor_gain	1.0000
2:191296109:A:AT	acceptor_loss	1.0000
2:191296110:G:GT	acceptor_gain	1.0000
2:191296110:GA:G	acceptor_gain	1.0000
2:191296110:GAC:G	acceptor_gain	1.0000
2:191296110:GACA:G	acceptor_gain	1.0000
2:191296110:GACAT:G	acceptor_gain	1.0000
2:191296222:CACAT:C	donor_gain	1.0000
2:191296223:ACAT:A	donor_gain	1.0000

AlphaMissense

7536 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:191329967:T:C	L95P	1.000
2:191329970:G:C	R96P	1.000
2:191330005:G:A	G108R	1.000
2:191330005:G:C	G108R	1.000
2:191330005:G:T	G108W	1.000
2:191330006:G:A	G108E	1.000
2:191330006:G:T	G108V	1.000
2:191330011:A:C	S110R	1.000
2:191330013:T:A	S110R	1.000
2:191330013:T:G	S110R	1.000
2:191330015:G:A	G111E	1.000
2:191330017:G:C	A112P	1.000
2:191330021:G:A	G113E	1.000
2:191330023:A:C	K114Q	1.000
2:191330024:A:T	K114I	1.000
2:191330027:C:T	T115I	1.000
2:191341466:A:C	S118R	1.000
2:191341468:T:A	S118R	1.000
2:191341468:T:G	S118R	1.000
2:191341479:T:G	M122R	1.000
2:191341490:G:C	A126P	1.000
2:191341493:G:C	A127P	1.000
2:191341539:T:C	L142P	1.000
2:191341557:T:A	V148D	1.000
2:191341560:T:C	L149P	1.000
2:191341565:G:C	A151P	1.000
2:191346241:G:A	G153R	1.000
2:191346241:G:C	G153R	1.000
2:191346242:G:A	G153E	1.000
2:191346242:G:T	G153V	1.000

dbSNP variants (sampled 300 via entrez): RS1000007715 (2:191357352 G>A,T), RS1000012403 (2:191418992 C>T), RS1000034834 (2:191251053 A>T), RS1000042775 (2:191318021 G>A), RS1000046128 (2:191386941 T>TA), RS1000055508 (2:191348502 T>C), RS1000064614 (2:191363989 T>C), RS1000095139 (2:191342485 A>G), RS1000122008 (2:191412539 A>C), RS1000122119 (2:191269996 T>C), RS1000152952 (2:191299619 A>G), RS1000154955 (2:191311611 G>A), RS1000181400 (2:191396972 T>C), RS1000205822 (2:191258246 C>T), RS1000214298 (2:191391602 T>C)

Disease associations

OMIM: gene MIM:606537 | disease phenotypes: MIM:114500

GenCC curated gene-disease

Mondo (1): colorectal cancer (MONDO:0005575)

Orphanet (1): NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001277_21	Liver enzyme levels (gamma-glutamyl transferase)	1.000000e-11
GCST001762_292	Obesity-related traits	9.000000e-06
GCST006019_45	Gamma glutamyl transferase levels	3.000000e-16
GCST006988_76	Blond vs. brown/black hair color	1.000000e-08
GCST009391_1181	Metabolite levels	7.000000e-06
GCST009849_14	Hallux valgus	5.000000e-07
GCST009849_3	Hallux valgus	2.000000e-06
GCST011349_42	Gamma glutamyl transferase levels	4.000000e-17
GCST90011900_134	Serum alkaline phosphatase levels	1.000000e-15
GCST90013406_90	Liver enzyme levels (alkaline phosphatase)	5.000000e-22
GCST90013407_26	Liver enzyme levels (gamma-glutamyl transferase)	5.000000e-87

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0003939	energy intake
EFO:0003924	hair color
EFO:0010454	adenosine monophosphate measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067031 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.17	Kd	6769	nM	CHEMBL5653589
5.14	ED50	7179	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148812: Binding affinity to human MYO1B incubated for 45 mins by Kinobead based pull down assay	kd	6.7688	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
bisphenol A	decreases expression, increases expression, affects cotreatment, increases methylation	3
sodium arsenite	decreases expression	3
Cadmium Chloride	increases expression, decreases reaction, increases abundance, increases palmitoylation, decreases expression	3
perfluorooctane sulfonic acid	decreases expression	2
Arsenic Trioxide	decreases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Cadmium	increases abundance, increases palmitoylation, increases expression, decreases reaction	2
Cisplatin	decreases response to substance, increases expression	2
Nickel	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Particulate Matter	affects cotreatment, increases abundance, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
TAK-243	decreases sumoylation	1
urushiol	increases expression	1
methylmercuric chloride	increases expression	1
pyrogallol 1,3-dimethyl ether	increases expression, affects cotreatment, decreases expression	1
decabromobiphenyl ether	increases expression	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
methylparaben	increases expression	1
afimoxifene	decreases reaction, decreases expression	1
tetrabromobisphenol A	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
perfluorooctanoic acid	affects cotreatment, increases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
cupric oxide	decreases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651854	Binding	Binding affinity to human MYO1B incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00114829	PHASE4	UNKNOWN	Preoperative Assessment of Colon Tumor
NCT00114842	PHASE4	COMPLETED	Magnetic Resonance (MR) Colonography With Fecal Tagging
NCT00114946	PHASE4	TERMINATED	A Study to Compare Two Avastin-Based Treatment Regimens for the Treatment of Metastatic Colorectal Cancer
NCT00122720	PHASE4	COMPLETED	The Effect of Darbepoetin Upon Rehabilitation for Colorectal Cancer Surgery
NCT00129870	PHASE4	TERMINATED	CONCEPT: Comparison of Oxaliplatin vs Conventional Methods With Calcium/Magnesium in First-Line Metastatic Colorectal Cancer
NCT00138060	PHASE4	COMPLETED	Toxicity/Benefit Ratio Optimization of Chemotherapy in Colorectal Cancer (CRC) Patients by Determination of Individual Genotypic Determinants
NCT00216424	PHASE4	TERMINATED	Capecitabine (Xeloda) and Radiation for Patients With Rectosigmoid Carcinoma
NCT00327093	PHASE4	TERMINATED	Elaboration of a Model for Predicting Efficacy of Monoclonal Antibodies (Cetuximab and Bevacizumab) in Patients With Colorectal Cancer and Liver Metastases
NCT00332943	PHASE4	COMPLETED	MR Colonography With Fecal Tagging. Barium vs. BariumFerumoxsil
NCT00441311	PHASE4	COMPLETED	Dissemination of Colorectal Cancer Screening to Primary Care Physicians
NCT00460837	PHASE4	WITHDRAWN	Comparison of Bowel Preparation in Virtual Colonoscopy (VC) - Patient Experience
NCT00473980	PHASE4	COMPLETED	Preoperative Non-steroidal Anti-inflammatory Drugs(NSAID) to Colorectal Cancer Patients
NCT00488904	PHASE4	COMPLETED	Omega-3 Fatty Acids and Postoperative Complications After Colorectal Surgery
NCT00496678	PHASE4	COMPLETED	Trial of Patient Navigation-Activation
NCT00502671	PHASE4	COMPLETED	A Study of Xeloda (Capecitabine) as Adjuvant Monotherapy in Patients With Colon Cancer.
NCT00559676	PHASE4	COMPLETED	Study of Biomarkers in Patients Undergoing Chemotherapy for Metastatic Colorectal Cancer
NCT00577031	PHASE4	COMPLETED	OBELIX Study: A Study of Avastin (Bevacizumab) in Combination With XELOX in Patients With Metastatic Cancer of the Colon or Rectum.
NCT00626054	PHASE4	COMPLETED	Comparison of Two Methods of Administration of a PEG Solution
NCT00812864	PHASE4	COMPLETED	Pharmacokinetic Study of Capecitabine in Elderly Cancer Patient (≥ 75 Years)
NCT00868569	PHASE4	UNKNOWN	Transhepatic Arterial Chemotherapy (TAC) Versus Transcatheter Arterial Chemoembolization (TACE) Plus Folfox4 as the Treatment of Unresectable Liver Metastasis of Colorectal Cancer
NCT00868816	PHASE4	COMPLETED	Oxaliplatine Based Adjuvant Chemotherapy for Stage II/III Colorectal Cancer: 8 Cycles Versus 12 Cycles
NCT00874406	PHASE4	UNKNOWN	Preoperative Transhepatic Arterial Chemotherapy (TAC) in the Treatment of Liver Metastasis of Resectable Colorectal Cancer
NCT00928928	PHASE4	COMPLETED	Oxidative Stress Markers in Open and Laparoscopic Colectomy for Cancer
NCT00942461	PHASE4	COMPLETED	Inflammatory Response in Laparoscopic and Open Colectomy
NCT01023633	PHASE4	UNKNOWN	OPTIMOX1 in Chinese mCRC Patients
NCT01271582	PHASE4	UNKNOWN	Investigation of Association Between UGT1A1 Polymorphisms and Irinotecan Toxicity in Korean Patients
NCT01315990	PHASE4	UNKNOWN	FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema
NCT01493713	PHASE4	COMPLETED	Correlation Between RECIST, Morphologic Response by CT- Histopathologic Response in Hepatic Metastasis Secondary to Colorectal Cancer
NCT01609660	PHASE4	COMPLETED	Impact of Probiotics on the Intestinal Microbiota
NCT01641458	PHASE4	COMPLETED	Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients
NCT01689792	PHASE4	COMPLETED	A Multi-centre Study Comparing the Polyp Detection Rate of Two Different Types of Bowel Preparation: a 2-litre Solution (MOVIPREP®) Versus a Hyperosmotic and Stimulant Combined Low Volume Bowel Preparation (Sodium Picosulfate and Magnesium Citrate)
NCT01695772	PHASE4	COMPLETED	A Study of Bevacizumab Plus 5-Flurouracil (5-FU) Based Doublet Chemotherapy as Neoadjuvant Therapy for Participants With Previously Untreated Unresectable Liver-Only Metastases From Colorectal Cancer
NCT01695863	PHASE4	COMPLETED	Efficacy and Patient Satisfaction of Miralax and Gatorade Versus Movi Prep
NCT01706822	PHASE4	TERMINATED	Radial Reload Laparoscopic LAR Case Series
NCT01740947	PHASE4	TERMINATED	Does Administration of Antibiotics in Patients Undergoing Surgery for Colorectal Cancer Result in Less Complications and Better Prognosis?
NCT01831310	PHASE4	COMPLETED	Nutrition for Colorectal Cancer Patients and Neutrophil Functions
NCT01841294	PHASE4	UNKNOWN	NK Activity Modulation Induced by Intravenous Lidocaine During Colorectal Laparoscopic Surgery
NCT01959061	PHASE4	UNKNOWN	Efficacy and Safety of Raltitrexed-based Transarterial Chemoembolisation(TACE)for Colorectal Cancer Liver Metastases
NCT02032953	PHASE4	UNKNOWN	Enhancing the Anabolic Effect of Perioperative Nutrition With Insulin While Maintaining Normoglycemia
NCT02567331	PHASE4	COMPLETED	A Study of Capecitabine (Xeloda) in Patients With Metastatic Colorectal Cancer