ATAT1

Summary

ATAT1 (alpha tubulin acetyltransferase 1, HGNC:21186) is a protein-coding gene on chromosome 6p21.33, encoding Alpha-tubulin N-acetyltransferase 1 (Q5SQI0). Specifically acetylates ‘Lys-40’ in alpha-tubulin on the lumenal side of microtubules.

This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 79969 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_001413067

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21186
Approved symbol	ATAT1
Name	alpha tubulin acetyltransferase 1
Location	6p21.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13158, Em:AB023049.7, MEC17
Ensembl gene	ENSG00000137343
Ensembl biotype	protein_coding
OMIM	615556
Entrez	79969

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000318999, ENST00000319027, ENST00000329992, ENST00000330083, ENST00000376483, ENST00000376485, ENST00000462304, ENST00000468713, ENST00000471782, ENST00000479562, ENST00000493388, ENST00000869580, ENST00000940347

RefSeq mRNA: 7 — MANE Select: NM_001413067 NM_001031722, NM_001190724, NM_001254952, NM_001318762, NM_001318763, NM_001413067, NM_024909

CCDS: CCDS4683, CCDS54978, CCDS59002, CCDS83072, CCDS83073

Canonical transcript exons

ENST00000376485 — 13 exons

Exon	Start	End
ENSE00001627650	30626874	30626992
ENSE00001782440	30642768	30643011
ENSE00003485594	30640377	30640422
ENSE00003485791	30640535	30640603
ENSE00003517869	30645895	30645974
ENSE00003550200	30628329	30628430
ENSE00003550936	30627851	30627911
ENSE00003601951	30646067	30646109
ENSE00003630072	30628032	30628145
ENSE00003651116	30642176	30642247
ENSE00003662999	30627636	30627727
ENSE00003694386	30627460	30627520
ENSE00003844975	30646469	30646821

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1205 / max 721.7465, expressed in 1758 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66745	16.7444	1750
66746	1.0324	530
66747	0.2512	119
66748	0.0926	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.24	gold quality
ganglionic eminence	UBERON:0004023	97.96	gold quality
ventricular zone	UBERON:0003053	93.80	gold quality
amygdala	UBERON:0001876	92.41	gold quality
temporal lobe	UBERON:0001871	92.38	gold quality
pituitary gland	UBERON:0000007	92.25	gold quality
hypothalamus	UBERON:0001898	91.87	gold quality
right uterine tube	UBERON:0001302	91.80	gold quality
Ammon’s horn	UBERON:0001954	91.77	gold quality
adenohypophysis	UBERON:0002196	91.71	gold quality
anterior cingulate cortex	UBERON:0009835	91.60	gold quality
primary visual cortex	UBERON:0002436	91.40	gold quality
nucleus accumbens	UBERON:0001882	91.23	gold quality
right frontal lobe	UBERON:0002810	91.22	gold quality
substantia nigra	UBERON:0002038	91.14	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.84	gold quality
superior frontal gyrus	UBERON:0002661	90.78	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.65	gold quality
caudate nucleus	UBERON:0001873	90.62	gold quality
putamen	UBERON:0001874	90.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.58	gold quality
left testis	UBERON:0004533	89.56	gold quality
right testis	UBERON:0004534	89.43	gold quality
brain	UBERON:0000955	89.24	gold quality
cerebellar hemisphere	UBERON:0002245	89.24	gold quality
cerebellum	UBERON:0002037	89.23	gold quality
cerebellar cortex	UBERON:0002129	89.23	gold quality
right ovary	UBERON:0002118	88.94	gold quality
testis	UBERON:0000473	88.68	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

66 targeting ATAT1, 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-4425	100.00	67.59	1049
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-942-5P	99.41	68.40	1977

Literature-anchored findings (GeneRIF, showing 19)

• cysteine residues play important catalytic roles through a ternary complex mechanism. alphaTAT1 mutations have analogous effects on tubulin acetylation in vitro and in cells (PMID:23071314)
• analysis reveals a basic patch implicated in substrate binding and a conserved glutamine residue required for catalysis, demonstrating that the family of alpha-tubulin acetyltransferases uses a reaction mechanism different from other lysine acetyltransferases (PMID:23071318)
• microtubules contacting clathrin-coated pits become acetylated by alphaTAT1; in migrating cells, this mechanism ensures the acetylation of microtubules oriented towards the leading edge, thus promoting directional cell locomotion and chemotaxis (PMID:24097348)
• Results suggest that lithium chloride (LiCl) treatments activate alpha-tubulin N-acetyltransferase 1 (alphaTAT1) by the inhibition of glycogen synthase kinase 3 beta (GSK-3beta) and promote the alpha-tubulin acetylation, and then elongate the primary cilia. (PMID:24760594)
• Crystal structure of the catalytic core of human MEC-17 in complex with acetyl-CoA. MEC17 has large, conserved surface patch that is critical for enzymatic activity suggesting extensive interactions with alpha-tubulin. (PMID:24846647)
• Mechanistic underpinnings for TAT activity and its preference for microtubules with slow turnover; cocrystal structures constrain TAT action to the microtubule lumen with Lys40 engaged in a suboptimal active site; despite the confined location of Lys40, TAT efficiently scans the microtubule bidirectionally and acetylates stochastically without preference for ends. (PMID:24906155)
• cellular quiescence induces Mec17 to couple the production of acetylated microtubules and Myh10, whose accumulation overcomes the inhibitory role of Myh9 and initiates ciliogenesis (PMID:25494100)
• Data suggest that invariant residues Arg132 and Ser160 in catalytic domain of ATAT1 participate in stable interaction with CoA and acetyl-CoA; ATAT1 with mutation at either residue exhibits much faster intracellular degradation. (PMID:25602620)
• Studies indicate that alpha-tubulin acetylation and microtubule level is mainly governed by opposing actions of alpha-tubulin acetyltransferase 1 (ATAT1) and histone deacetylase 6 (HDAC6). (PMID:26227334)
• these results demonstrate alphaTAT1 enters the lumen of microtubules from open extremities and spreads K40 acetylation marks longitudinally along cellular microtubules; this mode of tip-directed microtubule acetylation may allow for selective acetylation of subsets of microtubules (PMID:27752143)
• These results suggest that alphaTAT1-mediated Wnt1 expression via microtubule acetylation is important for colon cancer progression. (PMID:27836544)
• Depletion of the tubulin acetyltransferase TAT1 led to a significant increase in the frequency of microtubule breakage. (PMID:28428427)
• the actin-MRTF-SRF circuit controls alpha-TAT1 transcription. INF2 regulates the circuit, and hence microtubule acetylation, in cell types where it has a prominent role in actin polymerization. (PMID:29321169)
• The specific distributions of ATAT1 through the cell cycle in fibroblasts suggest multiple functions of ATAT1, which could include acetylation of microtubules, RNA transcription activity, severing microtubules, and completion of cytokinesis. (PMID:29869029)
• The interactions of GCN5L1, RanBP2 and alphaTAT1 function in concert to control alpha-tubulin acetylation and may contribute towards the regulation of cellular lysosome positioning. (PMID:30333138)
• Microtubule Acetylation Controls MDA-MB-231 Breast Cancer Cell Invasion through the Modulation of Endoplasmic Reticulum Stress. (PMID:34199510)
• alphaTAT1-induced tubulin acetylation promotes ameloblastoma migration and invasion. (PMID:34508164)
• The alpha-tubulin acetyltransferase ATAT1: structure, cellular functions, and its emerging role in human diseases. (PMID:38652325)
• Genetic disruption of ATAT1 causes RhoA downregulation through abnormal truncation of C/EBPbeta. (PMID:38835115)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	atat1	ENSDARG00000004472
mus_musculus	Atat1	ENSMUSG00000024426
rattus_norvegicus	Atat1	ENSRNOG00000000809
drosophila_melanogaster	lky	FBGN0031082
drosophila_melanogaster	Atat	FBGN0035989
caenorhabditis_elegans		WBGENE00003178
caenorhabditis_elegans		WBGENE00021059

Protein

Protein identifiers

Alpha-tubulin N-acetyltransferase 1 — Q5SQI0 (reviewed: Q5SQI0)

Alternative names: Acetyltransferase mec-17 homolog

All UniProt accessions (2): Q5SQI0, A0A1U9X797

UniProt curated annotations — full annotation on UniProt →

Function. Specifically acetylates ‘Lys-40’ in alpha-tubulin on the lumenal side of microtubules. Promotes microtubule destabilization and accelerates microtubule dynamics; this activity may be independent of acetylation activity. Acetylates alpha-tubulin with a slow enzymatic rate, due to a catalytic site that is not optimized for acetyl transfer. Enters the microtubule through each end and diffuses quickly throughout the lumen of microtubules. Acetylates only long/old microtubules because of its slow acetylation rate since it does not have time to act on dynamically unstable microtubules before the enzyme is released. Required for normal sperm flagellar function. Promotes directional cell locomotion and chemotaxis, through AP2A2-dependent acetylation of alpha-tubulin at clathrin-coated pits that are concentrated at the leading edge of migrating cells. May facilitate primary cilium assembly.

Subunit / interactions. Component of the BBSome complex. Interacts with AP2 alpha-adaptins, including AP2A2, but not with AP1 gamma-adaptin (AP1G1/AP1G2); this interaction is required for efficient alpha-tubulin acetylation, hence clathrin-coated pits are sites of microtubule acetylation.

Subcellular location. Cytoplasm. Membrane. Clathrin-coated pit. Cell junction. Focal adhesion. Cell projection. Axon. Cytoskeleton. Spindle.

Post-translational modifications. Autoacetylation strongly increases tubulin acetylation.

Similarity. Belongs to the acetyltransferase ATAT1 family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q5SQI0-1	1	yes
Q5SQI0-2	2
Q5SQI0-3	3
Q5SQI0-4	4
Q5SQI0-5	5
Q5SQI0-6	6
Q5SQI0-7	7

RefSeq proteins (7): NP_001026892, NP_001177653, NP_001241881, NP_001305691, NP_001305692, NP_001399996, NP_079185 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007965	GNAT_ATAT	Domain
IPR038746	Atat	Family

Pfam: PF05301

Enzyme classification (BRENDA):

• EC 2.3.1.108 — alpha-tubulin N-acetyltransferase (BRENDA: 13 organisms, 28 substrates, 7 inhibitors, 22 Km, 20 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ALPHA-TUBULIN L-LYSINE	0.0035–0.1073	20
ACETYL-COA	0.002–0.003	2

Catalyzed reactions (Rhea), 1 shown:

• L-lysyl-[alpha-tubulin] + acetyl-CoA = N(6)-acetyl-L-lysyl-[alpha-tubulin] + CoA + H(+) (RHEA:15277)

UniProt features (65 total): mutagenesis site 20, modified residue 9, strand 9, helix 8, splice variant 6, compositionally biased region 4, region of interest 3, binding site 2, chain 1, domain 1, site 1, turn 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
4B5O	X-RAY DIFFRACTION	1.05
3VWD	X-RAY DIFFRACTION	1.25
4PK3	X-RAY DIFFRACTION	1.35
4PK2	X-RAY DIFFRACTION	1.35
4B5P	X-RAY DIFFRACTION	1.6
4IF5	X-RAY DIFFRACTION	1.7
4U9Z	X-RAY DIFFRACTION	1.8
3VWE	X-RAY DIFFRACTION	1.96
4GS4	X-RAY DIFFRACTION	2.11
4U9Y	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SQI0-F1	69.28	0.41

Functional residue map

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

Catalytic / active sites (1): 58 (crucial for catalytic activity)

Ligand- & substrate-binding residues (2): 160–169; 124–137

Post-translational modifications (9): 56, 146, 233, 244, 272, 276, 305, 315, 323

Mutagenesis-validated functional residues (20):

Position	Phenotype
58	loss of acetyltransferase activity.
61	no effect on catalytic activity.
64	strong reduction in acetyltransferase activity.
69	strong reduction in acetyltransferase activity.
102	strong reduction in acetyltransferase activity.
105	reduced activity.
106	reduced activity.
107	reduced activity.
108	reduced activity.
109	slight increase in activity.
109	marginal increase in activity.
111	2-fold increase in activity.
111	no effect on catalytic activity.
115	reduced activity.
117	reduced activity.
120	strong reduction in microtubule acetylation.
157	strong reduction in microtubule acetylation.
158	20% of wild-type acetyltransferase activity.
182	strong reduction in activity.
183	strong reduction in activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5620920	Cargo trafficking to the periciliary membrane
R-HSA-5617833	Cilium Assembly
R-HSA-1852241	Organelle biogenesis and maintenance

MSigDB gene sets: 194 (showing top): GOBP_DENTATE_GYRUS_DEVELOPMENT, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_MALE_GAMETE_GENERATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS, TTGGGAG_MIR150, COUP_01, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_PEPTIDYL_LYSINE_MODIFICATION

GO Biological Process (12): microtubule cytoskeleton organization (GO:0000226), spermatogenesis (GO:0007283), response to mechanical stimulus (GO:0009612), dentate gyrus development (GO:0021542), NLRP3 inflammasome complex assembly (GO:0044546), regulation of fat cell differentiation (GO:0045598), response to pain (GO:0048265), neuron development (GO:0048666), cilium assembly (GO:0060271), regulation of microtubule cytoskeleton organization (GO:0070507), alpha-tubulin acetylation (GO:0071929), positive regulation of NLRP3 inflammasome complex assembly (GO:1900227)

GO Molecular Function (6): L-lysine N6-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468), tubulin N-acetyltransferase activity (GO:0019799), protein binding (GO:0005515), acetyltransferase activity (GO:0016407), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (14): Golgi apparatus (GO:0005794), cytosol (GO:0005829), microtubule (GO:0005874), clathrin-coated pit (GO:0005905), focal adhesion (GO:0005925), axon (GO:0030424), mitotic spindle (GO:0072686), microtubule bundle (GO:0097427), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	2
endomembrane system	2
microtubule cytoskeleton	2
intracellular membraneless organelle	2
cytoskeleton organization	1
microtubule-based process	1
developmental process involved in reproduction	1
male gamete generation	1
response to external stimulus	1
response to abiotic stimulus	1
hippocampus development	1
anatomical structure development	1
canonical inflammasome complex assembly	1
fat cell differentiation	1
regulation of cell differentiation	1
multicellular organismal response to stress	1
neuron differentiation	1
cell development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
microtubule cytoskeleton organization	1
regulation of microtubule-based process	1
regulation of cytoskeleton organization	1
internal peptidyl-lysine acetylation	1
positive regulation of protein-containing complex assembly	1
NLRP3 inflammasome complex assembly	1
positive regulation of inflammasome-mediated signaling pathway	1
regulation of NLRP3 inflammasome complex assembly	1
L-amino-acid N-acetyltransferase activity	1
protein-lysine-acetyltransferase activity	1
binding	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
catalytic activity	1

Protein interactions and networks

STRING

686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATAT1	HDAC6	Q9UBN7	835
ATAT1	SIRT2	Q8IXJ6	806
ATAT1	TTL	Q8NG68	585
ATAT1	TTLL4	Q14679	554
ATAT1	TTLL5	Q6EMB2	544
ATAT1	ELP3	Q9H9T3	537
ATAT1	KAT2A	Q92830	515
ATAT1	KAT2B	Q92831	514
ATAT1	MAP3K7	O43318	510
ATAT1	TTLL7	Q6ZT98	496
ATAT1	STAT2	P52630	473
ATAT1	TTLL10	Q6ZVT0	457
ATAT1	GLYATL1	Q969I3	446
ATAT1	SPAST	Q9UBP0	446
ATAT1	IRF9	Q00978	438

IntAct

35 interactions, top by confidence:

A	B	Type	Score
ATAT1	YWHAQ	psi-mi:“MI:0914”(association)	0.730
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
NCK2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAZ	SHTN1	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
ATAT1	SRPK2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ATAT1	NPM1	psi-mi:“MI:0915”(physical association)	0.400
ATAT1	YWHAE	psi-mi:“MI:0915”(physical association)	0.400
SFN	ATAT1	psi-mi:“MI:0915”(physical association)	0.400
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
YWHAH	SHTN1	psi-mi:“MI:0914”(association)	0.350
YWHAQ	SHTN1	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
ZNRD2	KRBA1	psi-mi:“MI:0914”(association)	0.350
ATAT1	CST1	psi-mi:“MI:0914”(association)	0.350
VCP	SHTN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (30): ATAT1 (Reconstituted Complex), ATAT1 (Affinity Capture-MS), ATAT1 (Affinity Capture-MS), ATAT1 (Affinity Capture-RNA), ATAT1 (Biochemical Activity), ATAT1 (Affinity Capture-MS), ATAT1 (Proximity Label-MS), YWHAG (Affinity Capture-MS), YWHAH (Affinity Capture-MS), YWHAZ (Affinity Capture-MS), HERC1 (Affinity Capture-MS), ATAT1 (Affinity Capture-MS), ATAT1 (Affinity Capture-MS), YWHAQ (Affinity Capture-MS), ATAT1 (Affinity Capture-MS)

ESM2 similar proteins: A1L1K1, A2ARM1, A2AVJ5, A4IFC9, A7E305, G5EGQ2, O08653, O36006, O43435, O46080, O95343, P13481, P28702, P28704, P56423, P56424, P56645, P61260, P97499, Q02556, Q07820, Q2NL16, Q32N92, Q5E9R0, Q5REG4, Q5SQI0, Q5TJF7, Q5U2W6, Q5U2Y1, Q61010, Q62233, Q6MZQ0, Q80V91, Q86Y01, Q86YD1, Q8AW93, Q8BIG4, Q8HYS5, Q8N9I9, Q91VU8

Diamond homologs: A4HE59, A4I1F7, A5K6W4, A8BM50, A8XRF5, B0W3R7, B2RZF9, B3L2R5, B3RNE8, D0NK82, O45100, Q16Y34, Q22XZ3, Q4CQJ5, Q4DTX9, Q4Q9X8, Q57XX3, Q58CX6, Q5DD96, Q5FWM1, Q5SQI0, Q5TM63, Q6MG11, Q6PH17, Q767K7, Q7PNM6, Q8K341, Q9VSY4, Q9W5X9, A8XKM2, C0H559, Q23192

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
MAP3K7	“up-regulates activity”	ATAT1	phosphorylation
ATAT1	“up-regulates quantity by stabilization”	TUBA3C	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA1B	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA3D	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA1C	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA3E	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA4A	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA8	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA1A	acetylation
ATAT1	“up-regulates quantity by stabilization”	TUBA4B	acetylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 30 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
Activation of BAD and translocation to mitochondria	7	280.5×	7e-15
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	247.5×	1e-14
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	247.5×	1e-14
Activation of BH3-only proteins	7	182.9×	1e-13
RHO GTPases activate PKNs	7	116.9×	2e-12
Intrinsic Pathway for Apoptosis	7	107.9×	3e-12
FOXO-mediated transcription	5	88.4×	2e-08
SARS-CoV-1-host interactions	8	74.0×	2e-12

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	73.3×	9e-07
intracellular protein localization	8	33.5×	2e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1277 predictions. Top by Δscore:

Variant	Effect	Δscore
6:30627458:A:AG	acceptor_gain	1.0000
6:30627459:G:GA	acceptor_gain	1.0000
6:30627459:GT:G	acceptor_gain	1.0000
6:30627516:CCAAG:C	donor_loss	1.0000
6:30627517:CAAGG:C	donor_loss	1.0000
6:30627518:AAGGT:A	donor_loss	1.0000
6:30627520:GGTA:G	donor_loss	1.0000
6:30627724:GACC:G	donor_gain	1.0000
6:30627728:G:GG	donor_gain	1.0000
6:30627847:ACAG:A	acceptor_gain	1.0000
6:30627849:A:AG	acceptor_gain	1.0000
6:30627849:AG:A	acceptor_gain	1.0000
6:30627850:G:GG	acceptor_gain	1.0000
6:30627850:GG:G	acceptor_gain	1.0000
6:30627912:G:C	donor_loss	1.0000
6:30627912:G:GG	donor_gain	1.0000
6:30627913:T:G	donor_loss	1.0000
6:30627914:GAGTG:G	donor_loss	1.0000
6:30628029:TAGG:T	acceptor_loss	1.0000
6:30628030:A:AG	acceptor_gain	1.0000
6:30628030:AG:A	acceptor_gain	1.0000
6:30628030:AGGAT:A	acceptor_gain	1.0000
6:30628031:G:GT	acceptor_gain	1.0000
6:30628031:GG:G	acceptor_gain	1.0000
6:30628031:GGA:G	acceptor_gain	1.0000
6:30628031:GGAT:G	acceptor_gain	1.0000
6:30628031:GGATG:G	acceptor_gain	1.0000
6:30628140:TTGC:T	donor_gain	1.0000
6:30628145:GGTAT:G	donor_loss	1.0000
6:30628147:T:A	donor_loss	1.0000

AlphaMissense

2715 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:30627503:G:C	G51R	1.000
6:30627504:G:A	G51D	1.000
6:30627504:G:T	G51V	1.000
6:30627513:C:T	S54F	1.000
6:30627515:G:C	A55P	1.000
6:30627516:C:A	A55D	1.000
6:30627641:G:C	Q58H	1.000
6:30627641:G:T	Q58H	1.000
6:30627873:G:C	G95R	1.000
6:30627874:G:A	G95D	1.000
6:30627882:A:G	K98E	1.000
6:30627884:A:C	K98N	1.000
6:30627884:A:T	K98N	1.000
6:30627888:G:A	G100R	1.000
6:30627888:G:C	G100R	1.000
6:30627889:G:A	G100E	1.000
6:30627894:A:G	K102E	1.000
6:30627895:A:T	K102M	1.000
6:30627896:G:C	K102N	1.000
6:30627896:G:T	K102N	1.000
6:30627901:T:A	L104H	1.000
6:30627901:T:C	L104P	1.000
6:30627903:T:A	F105I	1.000
6:30627903:T:C	F105L	1.000
6:30627903:T:G	F105V	1.000
6:30627904:T:C	F105S	1.000
6:30627904:T:G	F105C	1.000
6:30627905:T:A	F105L	1.000
6:30627905:T:G	F105L	1.000
6:30627907:T:A	V106E	1.000

dbSNP variants (sampled 300 via entrez): RS1000048094 (6:30626582 C>T), RS1000087085 (6:30634911 C>A,T), RS1000112654 (6:30645603 G>C), RS1000335289 (6:30641568 G>A,T), RS1000426794 (6:30628647 C>A,T), RS1000716173 (6:30646792 G>A), RS1000911920 (6:30628986 A>G), RS1000963561 (6:30629520 C>T), RS1001025510 (6:30647046 C>A,G,T), RS1001187589 (6:30646836 T>C), RS1001231873 (6:30646985 A>G), RS1001411101 (6:30639896 G>C), RS1001421916 (6:30633022 G>A), RS1001627477 (6:30626171 A>C,G,T), RS1001962595 (6:30627065 C>G)

Disease associations

OMIM: gene MIM:615556 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST004521_114	Autism spectrum disorder or schizophrenia	3.000000e-17
GCST004521_117	Autism spectrum disorder or schizophrenia	3.000000e-15
GCST004521_121	Autism spectrum disorder or schizophrenia	3.000000e-13
GCST004521_132	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_171	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_2	Autism spectrum disorder or schizophrenia	2.000000e-16
GCST004521_209	Autism spectrum disorder or schizophrenia	5.000000e-16
GCST004521_210	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_211	Autism spectrum disorder or schizophrenia	5.000000e-15
GCST004521_263	Autism spectrum disorder or schizophrenia	7.000000e-17
GCST004521_265	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_269	Autism spectrum disorder or schizophrenia	7.000000e-11
GCST004521_295	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_3	Autism spectrum disorder or schizophrenia	2.000000e-15
GCST004521_48	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_79	Autism spectrum disorder or schizophrenia	1.000000e-16
GCST006085_82	Prostate cancer	6.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs9262132	Toxicity	3	carboplatin;gemcitabine	Non-Small Cell Lung Carcinoma;Thrombocytopenia

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9262132	ATAT1	3	2.50	1	carboplatin;gemcitabine

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	4
sodium arsenite	decreases expression, increases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
Cadmium	decreases expression, increases abundance, increases expression	2
dicrotophos	increases expression	1
bisphenol A	increases expression	1
beta-lapachone	increases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	decreases expression	1
Leflunomide	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cannabidiol	decreases expression	1
Cisplatin	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Smoke	decreases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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