ACSM4 acyl-CoA synthetase medium chain family member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACSM4provided by HGNC
Official Full Name: acyl-CoA synthetase medium chain family member 4provided by HGNC
Primary source: HGNC:HGNC:32016
See related: Ensembl:ENSG00000215009 MIM:614360; AllianceGenome:HGNC:32016
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
Summary: Predicted to enable decanoate-CoA ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in spleen (RPKM 1.5), testis (RPKM 0.7) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (7304072..7328719)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (7317413..7342059)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (7456668..7481315)

Chromosome 12 - NC_000012.12 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?

SNPs associated with rapid AIDS progression
Title: ACSM4 polymorphisms are associated with rapid AIDS progression in HIV-infected patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables decanoate-CoA ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables fatty acid ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fatty acid ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables fatty-acyl-CoA synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in acyl-CoA metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: acyl-coenzyme A synthetase ACSM4, mitochondrial

NP_001073923.1

EC 6.2.1.2

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_001080454.2 → NP_001073923.1 acyl-coenzyme A synthetase ACSM4, mitochondrial precursor

See identical proteins and their annotated locations for NP_001073923.1

Status: VALIDATED

Source sequence(s)

AC131205

Consensus CDS

CCDS44825.1

UniProtKB/Swiss-Prot

A8MTI6, P0C7M7

Related

ENSP00000382349.4, ENST00000399422.5

Conserved Domains (2) summary

cd05928
Location:48 → 577

MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

COG0365
Location:49 → 580

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]