ACOT13 acyl-CoA thioesterase 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACOT13provided by HGNC
Official Full Name: acyl-CoA thioesterase 13provided by HGNC
Primary source: HGNC:HGNC:20999
See related: Ensembl:ENSG00000112304 MIM:615652; AllianceGenome:HGNC:20999
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: HT012; THEM2; PNAS-27
Summary: This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]
Expression: Ubiquitous expression in kidney (RPKM 18.3), liver (RPKM 16.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (24667077..24705046)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (24537472..24576170)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (24667305..24705274)

Chromosome 6 - NC_000006.12 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?

Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing.
Title: Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing.
Markers in DYX2 genes KIAA0319 and FAM65B were associated with cortical thickness in the left developing orbitofrontal region and global fractional anisotropy, respectively. KIAA0319 and ACOT13 were suggestively associated with overall fractional anisotropy and left pars opercularis cortical thickness, respectively.
Title: Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children.
This study models the reaction of the hTHEM2 enzyme by first-principles methods to elucidate atomic and electronic details of the mechanism, its transition-state (TS) conformation, and the free-energy landscape of the process.
Title: Molecular mechanism of a hotdog-fold acyl-CoA thioesterase.
study failed to show any association of THEM2 SNPs with developmental dyslexia in an Indian population.
Title: Lack of association between genetic polymorphisms in ROBO1, MRPL19/C2ORF3 and THEM2 with developmental dyslexia.
The results of this study confirmed that both FOXP2 and KIAA0319/TTRAP/THEM2 genes play an important role in human language development, but probably through different cerebral pathways.
Title: Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
The physiological role of hTHEM2 involves catalysis of the hydrolysis of cytosolic medium-to-long-chain acyl-CoA thioesters.
Title: The mechanisms of human hotdog-fold thioesterase 2 (hTHEM2) substrate recognition and catalysis illuminated by a structure and function based analysis.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.
Yeast two-hybrid screening using libraries prepared from mouse liver and embryo identified Them2 (thioesterase superfamily member 2) and the homeodomain transcription factor Pax3 (paired box gene 3), respectively, as PC-TP-interacting proteins.
Title: Interacting proteins dictate function of the minimal START domain phosphatidylcholine transfer protein/StarD2.
analysis of human thioesterase superfamily member 2 crystal structure
Title: Crystal structure of human thioesterase superfamily member 2.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

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

D6S2130 (e-PCR)
- UniSTS:80390

STS-AA033712 (e-PCR)
- UniSTS:71962

D6S1127E (e-PCR)
- UniSTS:151086

RH36217 (e-PCR)
- UniSTS:56728

PMC166143P4 (e-PCR)
- UniSTS:271567

PMC166143P7 (e-PCR)
- UniSTS:271570

RH68224 (e-PCR)
- UniSTS:36058

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fatty acyl-CoA hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acyl-CoA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion 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 lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein homotetramerization	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: acyl-coenzyme A thioesterase 13

Names: hotdog-fold thioesterase superfamily member 2; hypothalamus protein HT012; palmitoyl-CoA hydrolase; thioesterase superfamily member 2

NP_001153566.1

EC 3.1.2.2

NP_060943.1

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_001160094.2 → NP_001153566.1 acyl-coenzyme A thioesterase 13 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate exon and uses a distinct start codon, compared to variant (1). The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK309738, AL031775, CB852340, DB214267

Consensus CDS

CCDS54972.1

UniProtKB/Swiss-Prot

Q9NPJ3

Related

ENSP00000445552.1, ENST00000537591.5

Conserved Domains (2) summary

cd03443
Location:5 → 115

PaaI_thioesterase; PaaI_thioesterase is a tetrameric acyl-CoA thioesterase with a hot dog fold and one of several proteins responsible for phenylacetic acid (PA) degradation in bacteria. Although orthologs of PaaI exist in archaea and eukaryotes, their function has not ...

pfam13622
Location:30 → 98

4HBT_3; Thioesterase-like superfamily
NM_018473.4 → NP_060943.1 acyl-coenzyme A thioesterase 13 isoform 1

See identical proteins and their annotated locations for NP_060943.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).

Source sequence(s)

AL031775, BC000894, CB852340, DB214267

Consensus CDS

CCDS4558.1

UniProtKB/Swiss-Prot

F5H2L4, O95549, Q9NPJ3

Related

ENSP00000230048.3, ENST00000230048.5

Conserved Domains (1) summary

cd03443
Location:25 → 138

PaaI_thioesterase; PaaI_thioesterase is a tetrameric acyl-CoA thioesterase with a hot dog fold and one of several proteins responsible for phenylacetic acid (PA) degradation in bacteria. Although orthologs of PaaI exist in archaea and eukaryotes, their function has not ...