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    ACADSB acyl-CoA dehydrogenase short/branched chain [ Homo sapiens (human) ]

    Gene ID: 36, updated on 5-Feb-2023

    Summary

    Official Symbol
    ACADSBprovided by HGNC
    Official Full Name
    acyl-CoA dehydrogenase short/branched chainprovided by HGNC
    Primary source
    HGNC:HGNC:91
    See related
    Ensembl:ENSG00000196177 MIM:600301; AllianceGenome:HGNC:91
    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
    ACAD7; SBCAD; 2-MEBCAD
    Summary
    Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 72.3), kidney (RPKM 32.5) and 16 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ACADSB in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (123009006..123058290)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123884001..123933301)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124768522..124817806)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phosphoseryl-tRNA kinase Neighboring gene IKAROS family zinc finger 5 Neighboring gene Sharpr-MPRA regulatory region 2783 Neighboring gene Sharpr-MPRA regulatory region 13327 Neighboring gene VISTA enhancer hs1319 Neighboring gene VISTA enhancer hs329

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of acyl-CoA dehydrogenase, short/branched chain (ACADSB) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 2-methylacyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables isobutyryl-CoA:FAD oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables short-branched-chain-acyl-CoA dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in isoleucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in isoleucine catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion 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
    short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
    Names
    2-methyl branched chain acyl-CoA dehydrogenase
    2-methylbutyryl-coenzyme A dehydrogenase
    acyl-Coenzyme A dehydrogenase, short/branched chain
    NP_001317103.1
    NP_001600.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008003.1 RefSeqGene

      Range
      5001..54378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_451

    mRNA and Protein(s)

    1. NM_001330174.3NP_001317103.1  short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC012391, AW408417, BC032395, BQ312626, DC412570, H56072
      Consensus CDS
      CCDS81518.1
      UniProtKB/Swiss-Prot
      P45954
      Related
      ENSP00000357862.4, ENST00000368869.8
      Conserved Domains (1) summary
      cd01158
      Location:1328
      SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases
    2. NM_001609.4NP_001600.1  short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001600.1

      Status: REVIEWED

      Source sequence(s)
      AC012391, BC013756, DA964130, U12778
      Consensus CDS
      CCDS7634.1
      UniProtKB/Swiss-Prot
      P45954, Q96CX7
      UniProtKB/TrEMBL
      A0A0S2Z3P9
      Related
      ENSP00000357873.3, ENST00000358776.7
      Conserved Domains (2) summary
      cd01158
      Location:59430
      SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases
      COG1960
      Location:57428
      CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      123009006..123058290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      123884001..123933301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)