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    SLC25A15 solute carrier family 25 member 15 [ Homo sapiens (human) ]

    Gene ID: 10166, updated on 8-Jul-2021

    Summary

    Official Symbol
    SLC25A15provided by HGNC
    Official Full Name
    solute carrier family 25 member 15provided by HGNC
    Primary source
    HGNC:HGNC:10985
    See related
    Ensembl:ENSG00000102743 MIM:603861
    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
    HHH; ORC1; ORNT1; LNC-HC; D13S327
    Summary
    This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]
    Expression
    Broad expression in liver (RPKM 22.5), duodenum (RPKM 18.6) and 18 other tissues See more
    Orthologs
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    Genomic context

    See SLC25A15 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (40789611..40812460)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41363747..41386596)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene microRNA 320d-1 Neighboring gene mitochondrial ribosomal protein S31 Neighboring gene transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5 Neighboring gene microRNA 621 Neighboring gene CYCS pseudogene 34 Neighboring gene SUGT1P3 overlapping homotypic cluster of transcription factor binding sites enhancer Neighboring gene SUGT1 pseudogene 3

    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 L-ornithine transmembrane transporter activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables L-ornithine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial L-ornithine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in urea cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    mitochondrial ornithine transporter 1
    Names
    ornithine carrier 1
    ornithine transporter 1
    solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15

    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_012248.1 RefSeqGene

      Range
      5201..28050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014252.4NP_055067.1  mitochondrial ornithine transporter 1

      See identical proteins and their annotated locations for NP_055067.1

      Status: REVIEWED

      Source sequence(s)
      AA948095, AL161614, BC002702, BU726339
      Consensus CDS
      CCDS9373.1
      UniProtKB/Swiss-Prot
      Q9Y619
      Related
      ENSP00000342267.4, ENST00000338625.9
      Conserved Domains (1) summary
      pfam00153
      Location:207296
      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_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      40789611..40812460
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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