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    SLC25A47 solute carrier family 25 member 47 [ Homo sapiens (human) ]

    Gene ID: 283600, updated on 23-Nov-2021

    Summary

    Official Symbol
    SLC25A47provided by HGNC
    Official Full Name
    solute carrier family 25 member 47provided by HGNC
    Primary source
    HGNC:HGNC:20115
    See related
    Ensembl:ENSG00000140107 MIM:609911
    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
    HDCMP; HDMCP; C14orf68; HMFN1655
    Summary
    This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
    Expression
    Restricted expression toward liver (RPKM 73.4) See more
    Orthologs
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    Genomic context

    See SLC25A47 in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (100323339..100330421)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100789676..100796758)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene microRNA 345 Neighboring gene RNA, 7SL, cytoplasmic 523, pseudogene Neighboring gene tryptophanyl-tRNA synthetase 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 4 Neighboring gene WD repeat domain 25 Neighboring gene Sharpr-MPRA regulatory region 10653

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyl carnitine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in acyl carnitine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in acyl carnitine transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    solute carrier family 25 member 47
    Names
    HCC-down-regulated mitochondrial carrier protein
    hepatocellular carcinoma down-regulated mitochondrial carrier protein
    hepatocellular carcinoma-downregulated mitochondrial carrier protein

    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_054632.1 RefSeqGene

      Range
      4998..12080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350877.2NP_001337806.1  solute carrier family 25 member 47 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, resulting in a novel 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL157871, AY569438, BC144549, DA036173, HY289447
      Consensus CDS
      CCDS86432.1
      Related
      ENSP00000451078.1, ENST00000557052.1
      Conserved Domains (2) summary
      pfam00153
      Location:75156
      Mito_carr; Mitochondrial carrier protein
      cl28162
      Location:661
      Mito_carr; Mitochondrial carrier protein
    2. NM_207117.4NP_997000.2  solute carrier family 25 member 47 isoform 1

      See identical proteins and their annotated locations for NP_997000.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AY569438, DA036173, HY289447
      Consensus CDS
      CCDS9959.1
      UniProtKB/Swiss-Prot
      Q6Q0C1
      UniProtKB/TrEMBL
      A0A024R6H7
      Related
      ENSP00000354886.3, ENST00000361529.5
      Conserved Domains (1) summary
      pfam00153
      Location:221302
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      100323339..100330421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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