ACSS1

Summary

ACSS1 (acyl-CoA synthetase short chain family member 1, HGNC:16091) is a protein-coding gene on chromosome 20p11.21, encoding Acetyl-coenzyme A synthetase 2-like, mitochondrial (Q9NUB1). Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids.

This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 84532 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 93 total
• MANE Select transcript: NM_032501

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16091
Approved symbol	ACSS1
Name	acyl-CoA synthetase short chain family member 1
Location	20p11.21
Locus type	gene with protein product
Status	Approved
Aliases	dJ568C11.3, AceCS2L, MGC33843
Ensembl gene	ENSG00000154930
Ensembl biotype	protein_coding
OMIM	614355
Entrez	84532

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 19 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000323482, ENST00000376726, ENST00000432802, ENST00000484396, ENST00000537502, ENST00000887164, ENST00000887165, ENST00000887166, ENST00000887167, ENST00000887168, ENST00000887169, ENST00000887170, ENST00000887171, ENST00000887172, ENST00000964865, ENST00000964866, ENST00000964867, ENST00000964868, ENST00000964869, ENST00000964870

RefSeq mRNA: 4 — MANE Select: NM_032501 NM_001252675, NM_001252676, NM_001252677, NM_032501

CCDS: CCDS13167, CCDS58764, CCDS58765

Canonical transcript exons

ENST00000323482 — 14 exons

Exon	Start	End
ENSE00001018469	25012601	25012664
ENSE00001018473	25020010	25020147
ENSE00001018476	25012812	25012939
ENSE00001018477	25013961	25014073
ENSE00001018478	25009270	25009388
ENSE00001018481	25015138	25015230
ENSE00001160223	25048085	25048181
ENSE00001203634	25021389	25021536
ENSE00001203636	25022940	25023092
ENSE00001265023	25013536	25013662
ENSE00001265054	25030759	25030958
ENSE00001299793	25023466	25023641
ENSE00003675295	25006237	25007941
ENSE00003843999	25057769	25058139

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 97.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3002 / max 371.2650, expressed in 1325 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186782	11.8287	1270
186783	0.8719	446
186784	0.5995	204

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.07	gold quality
left ventricle myocardium	UBERON:0006566	96.84	silver quality
ileal mucosa	UBERON:0000331	95.44	gold quality
renal medulla	UBERON:0000362	95.09	gold quality
body of stomach	UBERON:0001161	94.82	gold quality
pancreatic ductal cell	CL:0002079	94.71	silver quality
heart left ventricle	UBERON:0002084	94.69	gold quality
body of pancreas	UBERON:0001150	94.57	gold quality
cardiac ventricle	UBERON:0002082	94.42	gold quality
putamen	UBERON:0001874	94.10	gold quality
granulocyte	CL:0000094	93.64	gold quality
stomach	UBERON:0000945	93.41	gold quality
amygdala	UBERON:0001876	93.30	gold quality
placenta	UBERON:0001987	93.09	gold quality
caudate nucleus	UBERON:0001873	93.03	gold quality
fundus of stomach	UBERON:0001160	92.97	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.81	gold quality
right testis	UBERON:0004534	92.41	gold quality
right uterine tube	UBERON:0001302	92.39	gold quality
cortex of kidney	UBERON:0001225	92.17	gold quality
right frontal lobe	UBERON:0002810	92.14	gold quality
cardia of stomach	UBERON:0001162	92.10	silver quality
small intestine	UBERON:0002108	92.08	gold quality
nucleus accumbens	UBERON:0001882	92.06	gold quality
metanephros cortex	UBERON:0010533	92.04	gold quality
left testis	UBERON:0004533	91.96	gold quality
heart	UBERON:0000948	91.58	gold quality
kidney epithelium	UBERON:0004819	91.58	silver quality
lower esophagus muscularis layer	UBERON:0035833	91.49	gold quality
minor salivary gland	UBERON:0001830	91.46	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	121.36
E-ANND-3	yes	8.19

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): KLF15, PAX3, SP1

miRNA regulators (miRDB)

38 targeting ACSS1, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6861-3P	99.60	68.46	444
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-140-3P	99.04	67.69	1324
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-4733-3P	98.35	65.20	994
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-6511A-3P	97.60	66.61	713
HSA-MIR-6511B-3P	97.60	66.61	713
HSA-MIR-4314	97.50	67.30	1369

Literature-anchored findings (GeneRIF, showing 3)

• citrate synthase and ACSS1 have tumorigenic functions in hepatocellular carcinoma (PMID:27363021)
• ACSS1 is essential for glucose-independent acetate-mediated cell survival and tumor growth. (PMID:27539851)
• Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models. (PMID:38042218)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	acss1	ENSDARG00000044142
mus_musculus	Acss1	ENSMUSG00000027452
rattus_norvegicus	Acss1	ENSRNOG00000007102

Paralogs (13): ACSM3 (ENSG00000005187), ACSM2B (ENSG00000066813), AACS (ENSG00000081760), ACSS3 (ENSG00000111058), ACSS2 (ENSG00000131069), AASDH (ENSG00000157426), ACSM1 (ENSG00000166743), ACSF2 (ENSG00000167107), ACSM6 (ENSG00000173124), ACSF3 (ENSG00000176715), ACSM5 (ENSG00000183549), ACSM2A (ENSG00000183747), ACSM4 (ENSG00000215009)

Protein

Protein identifiers

Acetyl-coenzyme A synthetase 2-like, mitochondrial — Q9NUB1 (reviewed: Q9NUB1)

Alternative names: Acetate–CoA ligase 2, Acetyl-CoA synthetase 2, Acyl-CoA synthetase short-chain family member 1, Propionate–CoA ligase

All UniProt accessions (2): Q9NUB1, Q5TF43

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids. Acetate is the preferred substrate. Can also utilize propionate with a much lower affinity. Provides acetyl-CoA that is utilized mainly for oxidation under ketogenic conditions. Involved in thermogenesis under ketogenic conditions, using acetate as a vital fuel when carbohydrate availability is insufficient.

Subunit / interactions. Interacts with SIRT3.

Subcellular location. Mitochondrion matrix.

Post-translational modifications. Reversibly acetylated on Lys-642. The acetyl-CoA synthase activity is inhibited by acetylation and activated by deacetylation mediated by the deacetylase SIRT3.

Activity regulation. Inhibited by acetylation at Lys-642 and activated by deacetylation mediated by the deacetylase SIRT3.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9NUB1-1	1	yes
Q9NUB1-2	2
Q9NUB1-3	3
Q9NUB1-4	4

RefSeq proteins (4): NP_001239604, NP_001239605, NP_001239606, NP_115890* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000873	AMP-dep_synth/lig_dom	Domain
IPR011904	Ac_CoA_lig	Family
IPR020845	AMP-binding_CS	Conserved_site
IPR025110	AMP-bd_C	Domain
IPR032387	ACAS_N	Domain
IPR042099	ANL_N_sf	Homologous_superfamily
IPR045851	AMP-b_sf	Homologous_superfamily

Pfam: PF00501, PF13193, PF16177

Enzyme classification (BRENDA):

• EC 6.2.1.1 — acetate-CoA ligase (BRENDA: 56 organisms, 173 substrates, 59 inhibitors, 236 Km, 149 kcat entries)

Substrate kinetics (BRENDA)

24 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ACETATE	0.035–11000	53
ATP	0.017–17	41
COA	0.011–1.2	36
PROPIONATE	0.62–188.8	16
BUTYRATE	0.19–151.9	12
VALERATE	0.4–11.1	7
4-METHYLVALERATE	0.07–7.6	6
ACETYL-COA	0.0037–1.8	6
HEPTANOATE	0.71–10.2	6
HEXANOATE	0.13–12.6	6
OCTANOATE	2.1–48	6
3-METHYLVALERATE	0.04–125	5
ISOBUTYRATE	0.15–219	5
PROPANOATE	3.1–10.5	5
SODIUM ACETATE	0.25–4.66	5

Catalyzed reactions (Rhea), 2 shown:

• propanoate + ATP + CoA = propanoyl-CoA + AMP + diphosphate (RHEA:20373)
• acetate + ATP + CoA = acetyl-CoA + AMP + diphosphate (RHEA:23176)

UniProt features (23 total): binding site 8, splice variant 5, modified residue 2, sequence conflict 2, transit peptide 1, chain 1, sequence variant 1, region of interest 1, mutagenesis site 1, compositionally biased region 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
3GLR	X-RAY DIFFRACTION	1.8
4C78	X-RAY DIFFRACTION	2
4BVE	X-RAY DIFFRACTION	2.05
3GLT	X-RAY DIFFRACTION	2.1
3GLU	X-RAY DIFFRACTION	2.5
4BVG	X-RAY DIFFRACTION	2.5
5Y4H	X-RAY DIFFRACTION	2.6
4BVF	X-RAY DIFFRACTION	2.7
5YTK	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NUB1-F1	88.07	0.67

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 (8): 556; 559; 224–227; 341; 417–419; 441–446; 533; 548

Post-translational modifications (2): 396, 642

Mutagenesis-validated functional residues (1):

Position	Phenotype
642	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-71384	Ethanol oxidation
R-HSA-1430728	Metabolism
R-HSA-211859	Biological oxidations
R-HSA-211945	Phase I - Functionalization of compounds

MSigDB gene sets: 209 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_SHORT_CHAIN_FATTY_ACID_METABOLIC_PROCESS

GO Biological Process (6): ethanol catabolic process (GO:0006068), acetyl-CoA biosynthetic process (GO:0006085), acetate biosynthetic process (GO:0019413), obsolete acetyl-CoA biosynthetic process from acetate (GO:0019427), propionate biosynthetic process (GO:0019542), lipid metabolic process (GO:0006629)

GO Molecular Function (9): acetyl-CoA synthetase activity (GO:0003987), ATP binding (GO:0005524), AMP binding (GO:0016208), propionate-CoA ligase activity (GO:0050218), nucleotide binding (GO:0000166), protein binding (GO:0005515), CoA-ligase activity (GO:0016405), ligase activity (GO:0016874), acid-thiol ligase activity (GO:0016878)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Phase I - Functionalization of compounds	1
Metabolism	1
Biological oxidations	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
adenyl ribonucleotide binding	2
ethanol metabolic process	1
primary alcohol catabolic process	1
acetyl-CoA metabolic process	1
acyl-CoA biosynthetic process	1
acetate metabolic process	1
monocarboxylic acid biosynthetic process	1
propionate metabolic process	1
short-chain fatty acid biosynthetic process	1
primary metabolic process	1
CoA-ligase activity	1
purine ribonucleoside triphosphate binding	1
anion binding	1
cation binding	1
short-chain fatty acid-CoA ligase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
acid-thiol ligase activity	1
catalytic activity	1
ligase activity, forming carbon-sulfur bonds	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2388 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACSS1	SIRT3	Q9NTG7	920
ACSS1	ACLY	P53396	827
ACSS1	SIRT1	Q96EB6	708
ACSS1	AASDH	Q4L235	643
ACSS1	IDH2	P48735	643
ACSS1	ACSL6	Q9UKU0	632
ACSS1	ACSL5	Q9ULC5	619
ACSS1	ACADL	P28330	613
ACSS1	SIRT5	Q9NXA8	611
ACSS1	SIRT4	Q9Y6E7	609
ACSS1	PC	P11498	582
ACSS1	PHGDH	O43175	580
ACSS1	FASN	P49327	577
ACSS1	ACOT12	Q8WYK0	576
ACSS1	HMGCS2	P54868	564

IntAct

25 interactions, top by confidence:

A	B	Type	Score
VAC14	ACSS1	psi-mi:“MI:0915”(physical association)	0.720
ACSS1	VAC14	psi-mi:“MI:0915”(physical association)	0.720
HSPD1	NUDT19	psi-mi:“MI:0914”(association)	0.710
NDUFS7	NDUFS8	psi-mi:“MI:0914”(association)	0.640
ECI2	ECH1	psi-mi:“MI:0914”(association)	0.620
MEOX2	ACSS1	psi-mi:“MI:0915”(physical association)	0.560
SPATA20	PMPCB	psi-mi:“MI:0914”(association)	0.350
	PITRM1	psi-mi:“MI:0914”(association)	0.350
UQCRFS1	VWA8	psi-mi:“MI:0914”(association)	0.350
MALSU1	VWA8	psi-mi:“MI:0914”(association)	0.350
PFDN5	GTPBP10	psi-mi:“MI:0914”(association)	0.350
PPA2	CLUH	psi-mi:“MI:0914”(association)	0.350
TMEM70	FDXR	psi-mi:“MI:0914”(association)	0.350
LDHD	ACOT2	psi-mi:“MI:0914”(association)	0.350
CLPP	NDUFA4	psi-mi:“MI:2364”(proximity)	0.270
	VWA8	psi-mi:“MI:2364”(proximity)	0.270
IMMP2L	MRPL45	psi-mi:“MI:2364”(proximity)	0.270
ACSS1	MEOX2	psi-mi:“MI:0915”(physical association)	0.000
ACSS1	VAC14	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): ACSS1 (Two-hybrid), ACSS1 (Affinity Capture-MS), ACSS1 (Affinity Capture-MS), ACSS1 (Affinity Capture-MS), ACSS1 (Affinity Capture-MS), ACSS1 (Affinity Capture-MS), ACSS1 (Affinity Capture-MS), ACSS1 (Affinity Capture-MS), ACSS1 (Two-hybrid), ACSS1 (Two-hybrid), ACSS1 (Proximity Label-MS), ACSS1 (Proximity Label-MS), ACSS1 (Proximity Label-MS), ACSS1 (Proximity Label-MS), ACSS1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K047, A0KNI2, A1U2S9, A4G3L8, A4SJM6, A6UED8, A6WXV8, A7MB45, A8PDE3, B2JD61, B3PS41, B9DGD6, B9JEV4, B9JV43, C3MAS0, O13440, O60011, O68040, O94049, P16928, P16929, P31638, P36333, P52910, P78773, Q01574, Q01576, Q14DH7, Q27549, Q2K2T1, Q54Z60, Q554Z5, Q5REB8, Q6BQF2, Q6BS00, Q6FLU2, Q6FXI2, Q6MNF1, Q750T7, Q758X0

Diamond homologs: A0A098D1P1, A0A0U1LQE6, A0A166YZW0, A0A1R3RGK1, A0A1W6BT46, A0A1W6BT53, A0A2Z5UHX0, A0A455ZJD4, A0A5K6CNB8, A0A6G9KH54, A0A823A1C6, A1DN09, A2R6H0, A2TBU4, B2KWH8, B8NHE4, B8NI19, B9WZX0, C9K7B5, C9K7C1, E1ACQ0, I1S2J4, J4UJF5, K0E4D7, L7WU80, M1W600, P0DXV3, P9WEU9, Q09MP4, Q09MP5, Q2T4N2, Q4H424, Q4WAW3, Q4WD47, Q4WF53, Q4WMK2, Q5D6D3, Q8J0L6, Q9I1H3, Q9L391

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ACSS1	“up-regulates quantity”	acetyl-CoA(4-)	“chemical modification”
ACSS1	“down-regulates quantity”	acetate	“chemical modification”
ACSS1	“down-regulates quantity”	“coenzyme A(4-)”	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 26 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
Mitochondrial protein degradation	5	33.6×	1e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2204 predictions. Top by Δscore:

Variant	Effect	Δscore
20:25007941:CCTG:C	acceptor_loss	1.0000
20:25007942:CTG:C	acceptor_loss	1.0000
20:25009264:ACTC:A	donor_loss	1.0000
20:25009265:CT:C	donor_loss	1.0000
20:25009266:T:TC	donor_loss	1.0000
20:25009267:C:CG	donor_loss	1.0000
20:25009268:A:AC	donor_gain	1.0000
20:25009268:ACCAG:A	donor_loss	1.0000
20:25009269:C:CC	donor_gain	1.0000
20:25009386:CAG:C	acceptor_gain	1.0000
20:25009389:C:CC	acceptor_gain	1.0000
20:25012596:CTCA:C	donor_loss	1.0000
20:25012597:TCACC:T	donor_loss	1.0000
20:25012598:CACC:C	donor_loss	1.0000
20:25012599:A:AC	donor_gain	1.0000
20:25012600:C:CC	donor_gain	1.0000
20:25012600:CCTT:C	donor_gain	1.0000
20:25012669:G:GC	acceptor_gain	1.0000
20:25012800:G:C	donor_gain	1.0000
20:25012810:A:AC	donor_gain	1.0000
20:25012811:C:CC	donor_gain	1.0000
20:25012819:T:TA	donor_gain	1.0000
20:25013531:CTCA:C	donor_loss	1.0000
20:25013532:TCA:T	donor_loss	1.0000
20:25013533:CAC:C	donor_loss	1.0000
20:25013534:A:AC	donor_gain	1.0000
20:25013534:ACC:A	donor_loss	1.0000
20:25013535:C:CC	donor_gain	1.0000
20:25013535:C:CT	donor_loss	1.0000
20:25013661:CC:C	acceptor_gain	1.0000

AlphaMissense

4481 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:25021465:G:C	S344R	0.999
20:25021465:G:T	S344R	0.999
20:25021467:T:G	S344R	0.999
20:25021482:A:G	W339R	0.999
20:25021482:A:T	W339R	0.999
20:25021411:G:C	S362R	0.998
20:25021411:G:T	S362R	0.998
20:25021413:T:G	S362R	0.998
20:25020139:A:G	W373R	0.997
20:25020139:A:T	W373R	0.997
20:25021480:C:A	W339C	0.997
20:25021480:C:G	W339C	0.997
20:25015147:A:G	W444R	0.996
20:25015147:A:T	W444R	0.996
20:25009289:G:T	A624D	0.995
20:25012633:A:T	V580D	0.994
20:25012637:C:G	A579P	0.994
20:25015150:A:G	W443R	0.994
20:25015150:A:T	W443R	0.994
20:25021424:A:T	V358D	0.994
20:25048136:G:T	A127D	0.994
20:25012876:C:G	R548P	0.993
20:25015227:C:T	G417E	0.993
20:25015228:C:G	G417R	0.993
20:25015228:C:T	G417R	0.993
20:25030802:A:C	F196L	0.993
20:25030802:A:T	F196L	0.993
20:25030804:A:G	F196L	0.993
20:25048174:G:C	C114W	0.993
20:25015198:A:G	W427R	0.992

dbSNP variants (sampled 300 via entrez): RS1000006513 (20:25011382 G>C), RS1000176140 (20:25050998 C>A,T), RS1000268677 (20:25046013 C>T), RS1000272760 (20:25044282 C>A,T), RS1000371507 (20:25028098 A>G), RS1000416481 (20:25040833 C>A,T), RS1000452775 (20:25029009 A>C), RS1000474611 (20:25011002 C>T), RS1000484100 (20:25023972 C>T), RS1000492287 (20:25024250 C>G), RS1000663049 (20:25056450 C>T), RS1000693713 (20:25018420 A>G), RS1000717478 (20:25021921 C>A), RS1000751174 (20:25012520 A>C), RS1000852728 (20:25036276 A>G)

Disease associations

OMIM: gene MIM:614355 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000579_45	Cognitive performance	9.000000e-06
GCST007015_9	Lumbar spine bone mineral density (integral)	4.000000e-06
GCST008522_14	Bitter alcoholic beverage consumption	1.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0007620	volumetric bone mineral density
EFO:0010092	bitter alcoholic beverage consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	4
Valproic Acid	affects cotreatment, increases expression	3
bisphenol A	decreases expression, affects methylation, affects cotreatment, increases methylation	2
Leflunomide	decreases expression	2
Acetaminophen	decreases expression	2
Estradiol	decreases expression, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression	2
2,4,6-tribromophenol	increases expression	1
methyleugenol	decreases expression	1
deoxynivalenol	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
decabromobiphenyl ether	increases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
tetrabromobisphenol A	decreases expression	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
jinfukang	increases expression	1
NSC 689534	decreases expression, affects binding	1
Temozolomide	increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C7ZG	HAP1 ACSS1 (-) 1	Cancer cell line	Male
CVCL_C7ZH	HAP1 ACSS1 (-) 2	Cancer cell line	Male
CVCL_C7ZI	HAP1 ACSS1 (-) 3	Cancer cell line	Male
CVCL_C7ZJ	HAP1 ACSS1 (-) 4	Cancer cell line	Male
CVCL_C7ZK	HAP1 ACSS1 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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