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ACSM1 acyl-CoA synthetase medium-chain family member 1 [ Homo sapiens (human) ]

Gene ID: 116285, updated on 7-May-2016
Official Symbol
ACSM1provided by HGNC
Official Full Name
acyl-CoA synthetase medium-chain family member 1provided by HGNC
Primary source
HGNC:HGNC:18049
See related
Ensembl:ENSG00000166743 HPRD:12551; MIM:614357; Vega:OTTHUMG00000131550
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
BUCS1; MACS1
Orthologs
Location:
16p12.3
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (20623233..20697744, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20634555..20709066, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371120 Neighboring gene acyl-CoA synthetase medium-chain family member 5 pseudogene 1 Neighboring gene uncharacterized LOC105379461 Neighboring gene acyl-CoA synthetase medium-chain family member 4 pseudogene Neighboring gene THUMP domain containing 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
NHGRI GWA Catalog
Genomewide association for schizophrenia in the CATIE study: results of stage 1.
NHGRI GWA Catalog

Markers

Homology

Clone Names

  • MGC150532

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
CoA-ligase activity TAS
Traceable Author Statement
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
acyl-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
butyrate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid ligase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
benzoate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
butyrate metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
cholesterol homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
energy derivation by oxidation of organic compounds NAS
Non-traceable Author Statement
more info
PubMed 
fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
fatty acid oxidation NAS
Non-traceable Author Statement
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
Preferred Names
acyl-coenzyme A synthetase ACSM1, mitochondrial
Names
Butyrate CoA ligase
butyrate--CoA ligase 1
butyryl Coenzyme A synthetase 1
butyryl-coenzyme A synthetase 1
lipoate-activating enzyme
medium-chain acyl-CoA synthetase
middle-chain acyl-CoA synthetase 1
NP_443188.2

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_001318890.1NP_001305819.1  acyl-coenzyme A synthetase ACSM1, mitochondrial

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC141273, AK092574, AK314282, BC125177, BC125178, CN360958
    UniProtKB/Swiss-Prot
    Q08AH1
    UniProtKB/TrEMBL
    B2RAP4
    Conserved Domains (2) summary
    COG0365
    Location:39575
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45574
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. NM_052956.2NP_443188.2  acyl-coenzyme A synthetase ACSM1, mitochondrial

    See identical proteins and their annotated locations for NP_443188.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB059429, AC141273, AK092574
    Consensus CDS
    CCDS10587.1
    UniProtKB/Swiss-Prot
    Q08AH1
    Related
    ENSP00000301956, OTTHUMP00000162288, ENST00000307493, OTTHUMT00000254412
    Conserved Domains (2) summary
    COG0365
    Location:39575
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45574
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. NR_134918.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple exons and contains an additional alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK092574, BC125177

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    20623233..20697744 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255084.1XP_005255141.1  

    Related
    ENSP00000428047, OTTHUMP00000226506, ENST00000520010, OTTHUMT00000378375
    Conserved Domains (2) summary
    COG0365
    Location:39575
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45574
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. XM_011545730.1XP_011544032.1  

    Conserved Domains (2) summary
    COG0365
    Location:39417
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45416
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. XM_006721017.1XP_006721080.1  

    Conserved Domains (2) summary
    COG0365
    Location:39514
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45513
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. XM_006721016.1XP_006721079.1  

    Conserved Domains (2) summary
    COG0365
    Location:39541
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:45540
    AFD_class_I; Adenylate forming domain, Class I superfamily
  5. XM_011545732.1XP_011544034.1  

    See identical proteins and their annotated locations for XP_011544034.1

    Conserved Domains (2) summary
    COG0365
    Location:3355
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1354
    AFD_class_I; Adenylate forming domain, Class I superfamily
  6. XM_006721018.1XP_006721081.1  

    See identical proteins and their annotated locations for XP_006721081.1

    Conserved Domains (2) summary
    COG0365
    Location:3355
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:1354
    AFD_class_I; Adenylate forming domain, Class I superfamily
  7. XM_011545731.1XP_011544033.1  

    Conserved Domains (2) summary
    COG0365
    Location:7376
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:5375
    AFD_class_I; Adenylate forming domain, Class I superfamily
  8. XM_011545729.1XP_011544031.1  

    Conserved Domains (2) summary
    pfam00501
    Location:63454
    AMP-binding; AMP-binding enzyme
    cl17068
    Location:45454
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. XR_429672.1 RNA Sequence

  2. XR_950738.1 RNA Sequence

  3. XR_243258.1 RNA Sequence

  4. XR_950737.1 RNA Sequence

  5. XR_950740.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    20721797..20789834 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)