ACOT7 acyl-CoA thioesterase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACOT7provided by HGNC
Official Full Name: acyl-CoA thioesterase 7provided by HGNC
Primary source: HGNC:HGNC:24157
See related: Ensembl:ENSG00000097021 MIM:602587; AllianceGenome:HGNC:24157
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACT; ACH1; BACH; LACH; LACH1; hBACH; CTE-II
Summary: This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 26.5), kidney (RPKM 21.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (6264272..6393767, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (5789916..5919409, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (6324332..6453827, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP3 promotes cisplatin resistance in non-small cell lung cancer cells by suppressing ACOT7-regulated ferroptosis.
Title: USP3 promotes cisplatin resistance in non-small cell lung cancer cells by suppressing ACOT7-regulated ferroptosis.
Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
Title: Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication.
NMRAL2P activation suppresses ACOT7 expression in gastric cancer.
Title: Interaction between ACOT7 and LncRNA NMRAL2P via Methylation Regulates Gastric Cancer Progression.
Patients in high ACOT7 group had a significant lower EFS and OS, while patients in high versus low expression levels of other types of ACOT showed no significant difference on the outcome
Title: Expression level of ACOT7 influences the prognosis in acute myeloid leukemia patients.
PKCzeta was specifically involved in ACOT7 depletion-mediated cell cycle arrest as an upstream molecule of the p53-p21 signaling pathway in MCF7 human breast carcinoma and A549 human lung carcinoma cells.
Title: Acyl-CoA thioesterase 7 is involved in cell cycle progression via regulation of PKCζ-p53-p21 signaling pathway.
WIG1 governs the miRNA-dependent and the miRNA-independent recruitment of AGO2 to lower the stability of and suppress the translation of ACOT7 mRNA.
Title: WIG1 is crucial for AGO2-mediated ACOT7 mRNA silencing via miRNA-dependent and -independent mechanisms.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
the human BACH gene can express long-chain acyl-CoA hydrolase activity in multiple intracellular compartments by generating BACH isoforms with differential localization signals to affect various cellular functions that involve acyl-CoAs
Title: Human brain acyl-CoA hydrolase isoforms encoded by a single gene.
BACH was deranged in hippocampus of mesial temporal lobe epilepsy patients.
Title: Aberrant cytosolic acyl-CoA thioester hydrolase in hippocampus of patients with mesial temporal lobe epilepsy.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants at ten loci influence QT interval duration in the QTGEN Study. 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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Markers

STS-W44582 (e-PCR)
- UniSTS:83312

D1S2531 (e-PCR)
- UniSTS:154265

D1S2335E (e-PCR)
- UniSTS:147361

SHGC-144364 (e-PCR)
- UniSTS:172213

D1S1250 (e-PCR)
- UniSTS:149447

D1S253 (e-PCR)
- UniSTS:72145

RH91132 (e-PCR)
- UniSTS:85989

SHGC-74153 (e-PCR)
- UniSTS:37863

ACOT7 (e-PCR)
- UniSTS:503283

SHGC-151038 (e-PCR)
- UniSTS:173310

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carboxylic ester hydrolase activity	IEA Inferred from Electronic Annotation more info
enables fatty-acyl-CoA binding	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acyl-CoA binding	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acyl-CoA hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acyl-CoA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acyl-CoA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in coenzyme A biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty-acyl-CoA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in medium-chain fatty acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in medium-chain fatty-acyl-CoA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in palmitic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

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	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytosolic acyl coenzyme A thioester hydrolase

Names: CTE-IIa; acyl-CoA thioesterase 2; acyl-CoA thioesterase, long chain; brain acyl-CoA hydrolase; long chain acyl-CoA thioester hydrolase

NP_009205.3

EC 3.1.2.2

NP_863654.1

EC 3.1.2.2

NP_863655.1

EC 3.1.2.2

NP_863656.1

EC 3.1.2.2

XP_047299355.1

EC 3.1.2.2

XP_054190023.1

EC 3.1.2.2

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_007274.4 → NP_009205.3 cytosolic acyl coenzyme A thioester hydrolase isoform hBACHa

See identical proteins and their annotated locations for NP_009205.3

Status: REVIEWED

Description

Transcript Variant: This variant (hBACHa) differs in the 5' UTR and 5' coding region, compared to variant hBACHb. It encodes isoform hBACHa that has a shorter and distinct N-terminus lacking a mitochondrial targetting sequence, compared to isoform hBACHb.

Source sequence(s)

AL031847, AL031848

Consensus CDS

CCDS30573.1

UniProtKB/Swiss-Prot

O00154

Related

ENSP00000354615.4, ENST00000361521.9

Conserved Domains (1) summary

cd03442
Location:212 → 335

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, ...
NM_181864.3 → NP_863654.1 cytosolic acyl coenzyme A thioester hydrolase isoform hBACHb

See identical proteins and their annotated locations for NP_863654.1

Status: REVIEWED

Description

Transcript Variant: This variant (hBACHb) encodes the longest isoform (hBACHb), which may be targetted to the mitochondria.

Source sequence(s)

AL031847, AL031848, BC017365, BM807217

Consensus CDS

CCDS65.1

UniProtKB/Swiss-Prot

A8K0K7, A8K232, A8K6B8, A8K837, B3KQ12, O00154, O43703, Q53Y78, Q5JYL2, Q5JYL3, Q5JYL4, Q5JYL5, Q5JYL6, Q5TGR4, Q9UJM9, Q9Y539, Q9Y540

Related

ENSP00000367086.2, ENST00000377855.6

Conserved Domains (1) summary

cd03442
Location:222 → 345

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, ...
NM_181865.3 → NP_863655.1 cytosolic acyl coenzyme A thioester hydrolase isoform hBACHc

See identical proteins and their annotated locations for NP_863655.1

Status: REVIEWED

Description

Transcript Variant: This variant (hBACHc) differs in the 5' UTR and 5' coding region, compared to variant hBACHb. It encodes isoform hBACHc that has a shorter and distinct N-terminus, compared to isoform hBACHb, and may also be targetted to the mitochondria.

Source sequence(s)

AB074418, AL031848, BC017365, BU594651

Consensus CDS

CCDS66.1

UniProtKB/Swiss-Prot

O00154

Related

ENSP00000367076.3, ENST00000377845.7

Conserved Domains (1) summary

cd03442
Location:192 → 315

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, ...
NM_181866.3 → NP_863656.1 cytosolic acyl coenzyme A thioester hydrolase isoform hBACHd

See identical proteins and their annotated locations for NP_863656.1

Status: REVIEWED

Description

Transcript Variant: This variant (hBACHd) differs in the 5' UTR and 5' coding region, compared to variant hBACHb. It encodes isoform hBACHd that has a shorter and distinct N-terminus lacking a mitochondrial targetting sequence, compared to isoform hBACHb.

Source sequence(s)

AB074419, BC017365, BQ067921

Consensus CDS

CCDS67.1

UniProtKB/TrEMBL

K7EKP8

Related

ENSP00000367073.3, ENST00000377842.7

Conserved Domains (2) summary

cd03442
Location:171 → 294

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, ...

pfam16136
Location:134 → 156

NINJA_B; Putative nuclear localization signal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

6264272..6393767 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443399.1 → XP_047299355.1 cytosolic acyl coenzyme A thioester hydrolase isoform X1

UniProtKB/TrEMBL

K7EKP8

Related

ENSP00000465719.1, ENST00000473466.2

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

5789916..5919409 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334048.1 → XP_054190023.1 cytosolic acyl coenzyme A thioester hydrolase isoform X1

UniProtKB/TrEMBL

K7EKP8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_181862.2: Suppressed sequence

Description

NM_181862.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_181863.2: Suppressed sequence

Description

NM_181863.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.