• Gene id: 10166

Gene Summary

• Gene Symbol: SLC25A15   Gene   UCSC   Ensembl
• Aliases: D13S327, HHH, LNC-HC, ORC1, ORNT1
• Gene name: solute carrier family 25 member 15
• Alternate names: mitochondrial ornithine transporter 1, ornithine carrier 1, ornithine transporter 1, solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15,
• Gene location: 13q14.11 (40789610: 40812459)     Exons: 7     NC_000013.11
• Gene summary(Entrez): 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 function
• OMIM: 603861

Protein Summary

• Protein general information: Q9Y619  
  • Name: Mitochondrial ornithine transporter 1 (Solute carrier family 25 member 15)
  • Length: 301  
  • Mass: 32736
  • Tissue specificity: Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart. {ECO
• Sequence:

  MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGFRGFYKGTSPALIANI
  AENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEMETSGKIAKSQ
  NTVWSVIKSILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGVGGICLWL
  AVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKLMMNQLEA
  Y

• Structural information:
  • Interpro: IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000342267
• Other Databases: GeneCards:  SLC25A15  Malacards:  SLC25A15

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990575	mitochondrial L-ornithine transmembrane transport	IBA	biological process
GO:0000064	L-ornithine transmembrane transporter activity	IBA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000064	L-ornithine transmembrane transporter activity	TAS	molecular function
GO:0000050	urea cycle	TAS	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:1990575	mitochondrial L-ornithine transmembrane transport	TAS	biological process
GO:0000050	urea cycle	TAS	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
Primary hyperammonemic disorders	KEGG:H01398
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	KEGG:H01268
Primary hyperammonemic disorders	KEGG:H01398
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	KEGG:H01268
Amino acid metabolic disorder	PMID:10805333
Citrullinemia	PMID:10369256
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)