ACOT12 acyl-CoA thioesterase 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACOT12provided by HGNC
Official Full Name: acyl-CoA thioesterase 12provided by HGNC
Primary source: HGNC:HGNC:24436
See related: Ensembl:ENSG00000172497 MIM:614315; AllianceGenome:HGNC:24436
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Cach; THEAL; CACH-1; STARD15
Summary: Enables identical protein binding activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid metabolic process. Predicted to act upstream of or within acetyl-CoA metabolic process. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver (RPKM 11.8) and kidney (RPKM 0.6) See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (81308609..81394134, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (81793197..81878724, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (80625815..80689953, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exosomal miR-155-5p derived from glioma stem-like cells promotes mesenchymal transition via targeting ACOT12.
Title: Exosomal miR-155-5p derived from glioma stem-like cells promotes mesenchymal transition via targeting ACOT12.
Loss of Acot12 contributes to NAFLD independent of lipolysis of adipose tissue.
Title: Loss of Acot12 contributes to NAFLD independent of lipolysis of adipose tissue.
Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population.
Title: Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population.
The ACOT12 could be a prognostic marker and a potential therapeutic target for combating hepatocellular carcinoma (HCC) metastasis.
Title: ACOT12-Dependent Alteration of Acetyl-CoA Drives Hepatocellular Carcinoma Metastasis by Epigenetic Induction of Epithelial-Mesenchymal Transition.
using a range of structural and biophysical techniques, it is demonstrated that ACOT12 is a trimer rather than a tetramer and that neither ADP nor ATP exert their regulatory effects by altering the oligomeric status of the enzyme
Title: Structural basis for regulation of the human acetyl-CoA thioesterase 12 and interactions with the steroidogenic acute regulatory protein-related lipid transfer (START) domain.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The human CACH cDNA encodes a 555-amino-acid sequence that is 81.4%/78.7% identical to those of the mouse/rat homologue, suggesting a conserved role for this enzyme in the human and rodent livers.
Title: Molecular cloning and functional expression of human cytosolic acetyl-CoA hydrolase.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of smoking behaviours among Bangladeshi adults. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables acetyl-CoA hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetyl-CoA hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables carboxylic ester hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acetyl-CoA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acyl-CoA metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: acetyl-coenzyme A thioesterase

Names: START domain-containing protein 15; StAR-related lipid transfer (START) domain containing 15; acyl-CoA thioester hydrolase 12; acyl-coenzyme A thioesterase 12; cytoplasmic acetyl-CoA hydrolase 1; cytosolic acetyl-CoA hydrolase; hCACH-1

NP_570123.1

EC 3.1.2.1

XP_006714595.1

EC 3.1.2.1

XP_016864534.1

EC 3.1.2.1

XP_016864535.1

EC 3.1.2.1

XP_016864536.1

EC 3.1.2.1

XP_016864537.1

EC 3.1.2.1

XP_054207614.1

EC 3.1.2.1

XP_054207615.1

EC 3.1.2.1

XP_054207616.1

EC 3.1.2.1

XP_054207617.1

EC 3.1.2.1

XP_054207618.1

EC 3.1.2.1

XP_054207619.1

EC 3.1.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_130767.3 → NP_570123.1 acetyl-coenzyme A thioesterase

See identical proteins and their annotated locations for NP_570123.1

Status: VALIDATED

Source sequence(s)

AB078619, AC008411, AK122960, BC089437

Consensus CDS

CCDS4055.1

UniProtKB/Swiss-Prot

B3KVK9, Q5FWE9, Q8WYK0

Related

ENSP00000303246.3, ENST00000307624.8

Conserved Domains (2) summary

cd08914
Location:311 → 546

START_STARD15-like; Lipid-binding START domain of mammalian STARD15 and related proteins

cd03442
Location:3 → 115

BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

81308609..81394134 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009047.2 → XP_016864536.1 acetyl-coenzyme A thioesterase isoform X3

Conserved Domains (2) summary

cd08914
Location:277 → 512

START_STARD15-like; Lipid-binding START domain of mammalian STARD15 and related proteins

cd03442
Location:147 → 271

BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...
XM_017009046.2 → XP_016864535.1 acetyl-coenzyme A thioesterase isoform X2

Conserved Domains (2) summary

cd03442
Location:3 → 115

BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...

cl14643
Location:311 → 518

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
XM_017009045.2 → XP_016864534.1 acetyl-coenzyme A thioesterase isoform X1

Conserved Domains (2) summary

cd08914
Location:311 → 546

START_STARD15-like; Lipid-binding START domain of mammalian STARD15 and related proteins

cd03442
Location:3 → 115

BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...
XM_017009048.2 → XP_016864537.1 acetyl-coenzyme A thioesterase isoform X5

Conserved Domains (2) summary

cd08914
Location:106 → 341

START_STARD15-like; Lipid-binding START domain of mammalian STARD15 and related proteins

cd03442
Location:1 → 100

BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...
XM_006714532.3 → XP_006714595.1 acetyl-coenzyme A thioesterase isoform X4

Conserved Domains (2) summary

cd03442
Location:3 → 115

BFIT_BACH; Brown fat-inducible thioesterase (BFIT). Brain acyl-CoA hydrolase (BACH). These enzymes deacylate long-chain fatty acids by hydrolyzing acyl-CoA thioesters to free fatty acids and CoA-SH. Eukaryotic members of this family are expressed in brain, testis, ...

cl14643
Location:311 → 377

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily