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

Gene ID: 10166, updated on 1-Jun-2020

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

Genomic context

See SLC25A15 in Genome Data Viewer
Location:
13q14.11
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (40789611..40812460)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41363547..41386601)

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

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:205296
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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