Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	641371
Gene name	Acyl-CoA thioesterase 1
Gene symbol	ACOT1
Synonyms (NCBI Gene)	ACH2CTE-1LACH2
Chromosome	14
Chromosome location	14q24.3

Show/Hide all (8)

miRTarBase ID	miRNA	Experiments
MIRT2166096	hsa-miR-185	CLIP-seq
MIRT2166097	hsa-miR-3180-5p	CLIP-seq
MIRT2166098	hsa-miR-4306	CLIP-seq
MIRT2166099	hsa-miR-4644	CLIP-seq
MIRT2166100	hsa-miR-4717-5p	CLIP-seq
MIRT2166101	hsa-miR-4766-3p	CLIP-seq
MIRT2166102	hsa-miR-4768-3p	CLIP-seq
MIRT2166103	hsa-miR-665	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IDA	16940157
GO:0001676	Process	Long-chain fatty acid metabolic process	IDA	16940157
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	IDA	16940157
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006637	Process	Acyl-CoA metabolic process	IBA
GO:0006637	Process	Acyl-CoA metabolic process	IDA	16940157
GO:0006637	Process	Acyl-CoA metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016790	Function	Thiolester hydrolase activity	IEA
GO:0032787	Process	Monocarboxylic acid metabolic process	IEA
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IBA
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IDA	16940157
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA

MIM	HGNC	e!Ensembl
614313	33128	ENSG00000184227

Q86TX2

Protein name

Acyl-coenzyme A thioesterase 1 (Acyl-CoA thioesterase 1) (EC 3.1.2.-) (CTE-I) (CTE-Ib) (Inducible cytosolic acyl-coenzyme A thioester hydrolase) (Long chain acyl-CoA thioester hydrolase) (Long chain acyl-CoA hydrolase) (Palmitoyl-coenzyme A thioesterase)

Protein function

Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. More active towards saturated and unsaturated long chain fatty acyl-CoAs (C12-C20). {ECO:0000269|PubMed:1694015

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04775	Bile_Hydr_Trans	16 → 141	Acyl-CoA thioester hydrolase/BAAT N-terminal region	Family
PF08840	BAAT_C	203 → 412	BAAT / Acyl-CoA thioester hydrolase C terminal	Domain

Sequence

MAATLILEPAGRCCWDEPVRIAVRGLAPEQPVTLRASLRDEKGALFQAHARYRADTLGEL
DLERAPALGGSFAGLEPMGLLWALEPEKPLVRLVKRDVRTPLAVELEVLDGHDPDPGRLL
CRVRHERYFLPPGVRREPVRAGRVRGTLFLPPEPGPFPGIVDMFGTGGGLLEYRASLLAG
KGFAVMALAYYNYEDLPKTMETLHLEYFEEAVNYLLSHPEVKGPGVGLLGISKGGELCLS
MASFLKGITAAVVINGSVANVGGTLRYKGETLPPVGVNRNRIKVTKDGYADIVDVLNSPL
EGPDQKSFIPVERAESTFLFLVGQDDHNWKSEFYANEACKRLQAHGRRKPQIICYPETGH
YIEPPYFPLCRASLHALVGSPIIWGGEPRAHAMAQVDAWKQLQTFFHKHLGGHEGTIPSK
V

Sequence length

421

Interactions

View interactions

	KEGG		Reactome
	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways Ovarian steroidogenesis		Mitochondrial Fatty Acid Beta-Oxidation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Generalized hypotonia	Pathogenic	rs1057519450	RCV000416479	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34520261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	29555575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	25058030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	25058030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36109518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ACOT1 (acyl-CoA thioesterase 1)