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ACSM5 acyl-CoA synthetase medium chain family member 5 [ Homo sapiens (human) ]

Gene ID: 54988, updated on 5-Mar-2024

Summary

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Official Symbol
ACSM5provided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 5provided by HGNC
Primary source
HGNC:HGNC:26060
See related
Ensembl:ENSG00000183549 MIM:614361; AllianceGenome:HGNC:26060
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 fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Predicted to be active in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver (RPKM 53.9), fat (RPKM 14.6) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
16p12.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20409534..20441336)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20340542..20372354)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20420856..20452658)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uromodulin Neighboring gene protein disulfide isomerase like, testis expressed Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:20397845-20398378 Neighboring gene uncharacterized LOC105371119 Neighboring gene acyl-CoA synthetase medium chain family member 2A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Integrative analysis of genome-wide DNA methylation and single-nucleotide polymorphism identified ACSM5 as a suppressor of lumbar ligamentum flavum hypertrophy. Cao Y, et al. Arthritis Res Ther, 2021 Sep 30. PMID 34593020, Free PMC Article
  2. New loci associated with kidney function and chronic kidney disease. Köttgen A, et al. Nat Genet, 2010 May. PMID 20383146, Free PMC Article
  3. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. Watkins PA, et al. J Lipid Res, 2007 Dec. PMID 17762044
  4. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
  5. An atlas of genetic influences on human blood metabolites. Shin SY, et al. Nat Genet, 2014 Jun. PMID 24816252, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrative analysis of genome-wide DNA methylation and single-nucleotide polymorphism identified ACSM5 as a suppressor of lumbar ligamentum flavum hypertrophy.
    Title: Integrative analysis of genome-wide DNA methylation and single-nucleotide polymorphism identified ACSM5 as a suppressor of lumbar ligamentum flavum hypertrophy.
  2. 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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20581

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables butyrate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables fatty acid ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fatty-acyl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables medium-chain fatty acid-CoA ligase activity IEA
Inferred from Electronic Annotation
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
  

General protein information

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Preferred Names
acyl-coenzyme A synthetase ACSM5, mitochondrial
NP_001311300.1
NP_001311301.1
NP_001311302.1
NP_060358.2

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)

  1. NM_001324371.2 → NP_001311300.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC137056
    Consensus CDS
    CCDS10585.1
    UniProtKB/Swiss-Prot
    Q6NUN0, Q96AV1, Q96CX8, Q9NWV3
    Conserved Domains (2) summary
    cd05928
    Location:49 → 577
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
    COG0365
    Location:49 → 576
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

  2. NM_001324372.2 → NP_001311301.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC137056
    Conserved Domains (2) summary
    COG0365
    Location:49 → 552
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:49 → 552
    AFD_class_I; Adenylate forming domain, Class I superfamily

  3. NM_001324373.2 → NP_001311302.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC137056, BC013753, BC016703
    Consensus CDS
    CCDS81954.1
    UniProtKB/Swiss-Prot
    Q6NUN0
    Related
    ENSP00000460112.1, ENST00000575584.5
    Conserved Domains (1) summary
    cl17068
    Location:49 → 208
    AFD_class_I; Adenylate forming domain, Class I superfamily

  4. NM_017888.3 → NP_060358.2  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_060358.2

    Status: VALIDATED

    Source sequence(s)
    AC137056, AK000588, AV648626, AV653851, AV696798, BC016703, BX505437
    Consensus CDS
    CCDS10585.1
    UniProtKB/Swiss-Prot
    Q6NUN0, Q96AV1, Q96CX8, Q9NWV3
    Related
    ENSP00000327916.4, ENST00000331849.8
    Conserved Domains (2) summary
    cd05928
    Location:49 → 577
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
    COG0365
    Location:49 → 576
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

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

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    20409534..20441336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20340542..20372354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NUN0.2 GenPept UniProtKB/Swiss-Prot:Q6NUN0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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