Homo sapiens Gene: SLC25A15

Summary
InnateDB Gene IDBG-26653.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol SLC25A15
Gene Name solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
Synonyms D13S327; HHH; ORC1; ORNT1
Species Homo sapiens
Ensembl Gene ENSG00000102743
Encoded Proteins
IDBP-26657 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
IDBP-593785 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
IDBP-365929 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
IDBP-597928 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 13: 41363548-41386596
Strand Forward strand
Band q14.11
Transcripts
ENST00000338625  ENSP00000342267
ENST00000426521  ENSP00000431313
ENST00000417731  ENSP00000415826
ENST00000478827 
ENST00000470509  ENSP00000431429
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein‑Protein  1
[view]
Protein‑DNA 0
Protein‑RNA 1
[view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0000064 L-ornithine transmembrane transporter activity
Biological Process
GO:0000050 urea cycle
GO:0000066 mitochondrial ornithine transport
GO:0006520 cellular amino acid metabolic process
GO:0006810 transport
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral to membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000031482 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000011647 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_847 Urea cycle
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9Y619 
TrEMBL F2Z354 Q5VZD9
UniProt Splice Variant
Entrez Gene 10166 
UniGene
RefSeq
HUGO 10985 
OMIM 603861
CCDS CCDS9373 
HPRD 04838
IMGT
EMBL AF112968 AF177333 AJ309943 AL161614 BC002702 CH471075
GenPept AAD45238  AAG17977  AAH02702  CAC83972  CAH72773  CAH72774  EAX08630 
ImmGen SLC25A15 (murine) 
RNA Seq Atlas 10166