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

Gene ID: 54988, updated on 23-Nov-2021

Summary

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
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
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

See ACSM5 in Genome Data Viewer
Location:
16p12.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (20409534..20441336)
105.20201022 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 uncharacterized LOC105371119 Neighboring gene acyl-CoA synthetase medium chain family member 2A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables fatty-acyl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001324371.2NP_001311300.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC137056
    Consensus CDS
    CCDS10585.1
    UniProtKB/Swiss-Prot
    Q6NUN0
    Conserved Domains (2) summary
    cd05928
    Location:49577
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
    COG0365
    Location:49576
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
  2. NM_001324372.2NP_001311301.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC137056
    Conserved Domains (2) summary
    COG0365
    Location:49552
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:49552
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. NM_001324373.2NP_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:49208
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. NM_017888.3NP_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
    Related
    ENSP00000327916.4, ENST00000331849.8
    Conserved Domains (2) summary
    cd05928
    Location:49577
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
    COG0365
    Location:49576
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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