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    SLC25A20 solute carrier family 25 member 20 [ Homo sapiens (human) ]

    Gene ID: 788, updated on 11-Jun-2021

    Summary

    Official Symbol
    SLC25A20provided by HGNC
    Official Full Name
    solute carrier family 25 member 20provided by HGNC
    Primary source
    HGNC:HGNC:1421
    See related
    Ensembl:ENSG00000178537 MIM:613698
    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
    CAC; CACT
    Summary
    This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 37.3), duodenum (RPKM 32.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SLC25A20 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48856926..48898882, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48894359..48936315, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene protein kinase cAMP-dependent type II regulatory subunit alpha Neighboring gene PRKAR2A antisense RNA 1 Neighboring gene ARIH2 opposite strand lncRNA Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 Neighboring gene prolyl 4-hydroxylase, transmembrane

    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 acyl carnitine transmembrane transporter activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables acyl carnitine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acyl carnitine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in carnitine shuttle TAS
    Traceable Author Statement
    more info
     
    involved_in carnitine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    mitochondrial carnitine/acylcarnitine carrier protein
    Names
    solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
    NP_000378.1

    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.

    Genomic

    1. NG_008171.1 RefSeqGene

      Range
      5015..46971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000387.6NP_000378.1  mitochondrial carnitine/acylcarnitine carrier protein

      See identical proteins and their annotated locations for NP_000378.1

      Status: REVIEWED

      Source sequence(s)
      BC001689, BQ018220, DC360427
      Consensus CDS
      CCDS2779.1
      UniProtKB/Swiss-Prot
      O43772
      Related
      ENSP00000326305.4, ENST00000319017.5
      Conserved Domains (1) summary
      pfam00153
      Location:106198
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      48856926..48898882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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