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ACSM3 acyl-CoA synthetase medium chain family member 3 [ Homo sapiens (human) ]

Gene ID: 6296, updated on 13-May-2022

Summary

Official Symbol
ACSM3provided by HGNC
Official Full Name
acyl-CoA synthetase medium chain family member 3provided by HGNC
Primary source
HGNC:HGNC:10522
See related
Ensembl:ENSG00000005187 MIM:145505; AllianceGenome:HGNC:10522
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
Also known as
SA; SAH
Summary
Enables butyrate-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of ulcerative colitis. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver (RPKM 29.1), kidney (RPKM 21.9) and 17 other tissues See more
Orthologs
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Genomic context

See ACSM3 in Genome Data Viewer
Location:
16p12.3
Exon count:
23
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20674405..20797581)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20694945..20728512)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20775336..20808903)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984831 Neighboring gene acyl-CoA synthetase medium chain family member 5 pseudogene 1 Neighboring gene acyl-CoA synthetase medium chain family member 1 Neighboring gene NADH-ubiquinone oxidoreductase chain 5-like Neighboring gene acyl-CoA synthetase medium chain family member 4 pseudogene Neighboring gene THUMP domain containing 1 Neighboring gene RNA, U6 small nuclear 944, pseudogene Neighboring gene ERI1 exoribonuclease family member 2 Neighboring gene uncharacterized LOC105371121 Neighboring gene RNA exonuclease 5 Neighboring gene defective in cullin neddylation 1 domain containing 3 Neighboring gene LYR motif containing 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables butyrate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables methylbutanoate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
enables propionate CoA-transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables propionate-CoA ligase activity 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 cholesterol homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of blood pressure NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
acyl-coenzyme A synthetase ACSM3, mitochondrial
Names
SA (rat hypertension-associated) homolog
SA hypertension-associated homolog
butyrate--CoA ligase 3
butyryl-coenzyme A synthetase 3
middle-chain acyl-CoA synthetase 3
propionate--CoA ligase
protein SA homolog
NP_005613.2
NP_973729.1
XP_011544213.1
XP_016879012.1
XP_024306135.1
XP_024306136.1
XP_024306138.1
XP_047290375.1
XP_047290376.1
XP_047290377.1
XP_047290378.1
XP_047290379.1
XP_047290380.1
XP_047290381.1
XP_047290382.1
XP_047290383.1
XP_047290384.1
XP_047290385.1
XP_047290386.1
XP_047290387.1
XP_047290388.1
XP_047290389.1
XP_047290390.1
XP_047290391.1
XP_047290392.1
XP_047290393.1
XP_047290394.1
XP_047290395.1
XP_047290396.1
XP_047290397.1

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_005622.4NP_005613.2  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_005613.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC004381, BI770558, BM828310, BU170035, D16350, X80062
    Consensus CDS
    CCDS10589.1
    UniProtKB/Swiss-Prot
    Q53FZ2
    Related
    ENSP00000289416.5, ENST00000289416.10
    Conserved Domains (1) summary
    cd05928
    Location:54583
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
  2. NM_202000.3NP_973729.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_973729.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BI770558, X80062
    Consensus CDS
    CCDS45435.1
    UniProtKB/Swiss-Prot
    Q53FZ2
    Related
    ENSP00000394565.2, ENST00000440284.6
    Conserved Domains (2) summary
    COG0365
    Location:54429
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:54409
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    20674405..20797581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434437.1XP_047290393.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

  2. XM_047434427.1XP_047290383.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  3. XM_024450368.2XP_024306136.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X2

    Conserved Domains (1) summary
    cd05928
    Location:54620
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
  4. XM_047434435.1XP_047290391.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

  5. XM_047434438.1XP_047290394.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

  6. XM_047434436.1XP_047290392.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

  7. XM_047434439.1XP_047290395.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

  8. XM_047434440.1XP_047290396.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

  9. XM_047434421.1XP_047290377.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  10. XM_047434424.1XP_047290380.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  11. XM_047434420.1XP_047290376.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  12. XM_047434422.1XP_047290378.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  13. XM_047434429.1XP_047290385.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  14. XM_047434419.1XP_047290375.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  15. XM_047434423.1XP_047290379.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  16. XM_047434426.1XP_047290382.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  17. XM_047434425.1XP_047290381.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  18. XM_047434431.1XP_047290387.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  19. XM_047434430.1XP_047290386.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  20. XM_047434428.1XP_047290384.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  21. XM_047434432.1XP_047290388.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  22. XM_047434433.1XP_047290389.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

  23. XM_047434441.1XP_047290397.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X5

  24. XM_024450370.2XP_024306138.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X4

    Conserved Domains (1) summary
    cd05928
    Location:54583
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
  25. XM_047434434.1XP_047290390.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X3

  26. XM_011545911.3XP_011544213.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X2

    Related
    ENSP00000456767.1, ENST00000562251.5
    Conserved Domains (1) summary
    cd05928
    Location:54620
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
  27. XM_024450367.2XP_024306135.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl17068
    Location:54596
    AFD_class_I; Adenylate forming domain, Class I superfamily
  28. XM_017023523.3XP_016879012.1  acyl-coenzyme A synthetase ACSM3, mitochondrial isoform X3

    Conserved Domains (1) summary
    cd05928
    Location:54559
    MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    20694945..20728512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)