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    ACSBG1 acyl-CoA synthetase bubblegum family member 1 [ Homo sapiens (human) ]

    Gene ID: 23205, updated on 5-Aug-2018

    Summary

    Official Symbol
    ACSBG1provided by HGNC
    Official Full Name
    acyl-CoA synthetase bubblegum family member 1provided by HGNC
    Primary source
    HGNC:HGNC:29567
    See related
    Ensembl:ENSG00000103740 MIM:614362; Vega:OTTHUMG00000143734
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BG; BG1; BGM; LPD; GR-LACS
    Summary
    The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 8.4), adrenal (RPKM 6.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See ACSBG1 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (78167468..78234707, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78463187..78527049, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SH2 domain containing 7 Neighboring gene calcium and integrin binding family member 2 Neighboring gene isocitrate dehydrogenase 3 (NAD(+)) alpha Neighboring gene uncharacterized LOC105370911 Neighboring gene uncharacterized LOC105370910 Neighboring gene DnaJ heat shock protein family (Hsp40) member A4

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ30320, KIAA0631, MGC14352

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    decanoate-CoA ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    long-chain fatty acid-CoA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very long-chain fatty acid-CoA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very long-chain fatty acid-CoA ligase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    long-chain fatty-acyl-CoA biosynthetic process TAS
    Traceable Author Statement
    more info
     
    myelination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    very long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    long-chain-fatty-acid--CoA ligase ACSBG1
    Names
    bubblegum
    lipidosin
    very long-chain acyl-CoA synthetase
    NP_001186306.1
    NP_055977.3
    XP_011519692.1
    XP_011519693.2
    XP_016877514.1
    XP_016877515.1

    NCBI Reference Sequences (RefSeq)

    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_001199377.1NP_001186306.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC090260, AK295269, BC009289, DC401742
      UniProtKB/Swiss-Prot
      Q96GR2
      UniProtKB/TrEMBL
      B7Z2Y6
      Conserved Domains (2) summary
      cd05933
      Location:125715
      ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
      COG1022
      Location:103718
      FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]
    2. NM_015162.4NP_055977.3  long-chain-fatty-acid--CoA ligase ACSBG1 isoform 1

      See identical proteins and their annotated locations for NP_055977.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK054882, BC009289, DC401742
      Consensus CDS
      CCDS10298.1
      UniProtKB/Swiss-Prot
      Q96GR2
      UniProtKB/TrEMBL
      B3KNS7
      Related
      ENSP00000258873.4, OTTHUMP00000184909, ENST00000258873.8, OTTHUMT00000289802
      Conserved Domains (2) summary
      cd05933
      Location:125719
      ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
      COG1022
      Location:103722
      FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      78167468..78234707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022025.2XP_016877514.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X1

    2. XM_011521391.2XP_011519693.2  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X4

    3. XM_011521390.3XP_011519692.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X3

      Conserved Domains (2) summary
      cd05933
      Location:103697
      ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
      COG1022
      Location:81700
      FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]
    4. XM_017022026.1XP_016877515.1  long-chain-fatty-acid--CoA ligase ACSBG1 isoform X2

      Conserved Domains (2) summary
      cd05933
      Location:133727
      ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
      COG1022
      Location:111730
      FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]
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