InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC25A15

Summary

InnateDB Protein

IDBP-26657.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC25A15

Protein Name

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

Synonyms

D13S327; HHH; ORC1; ORNT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000342267

InnateDB Gene

IDBG-26653 (SLC25A15)

Protein Structure

UniProt Annotation

Function

Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.

Subcellular Localization

Mitochondrion inner membrane; Multi-pass membrane protein.

Disease Associations

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]: Autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. {ECO:0000269PubMed:10369256, ECO:0000269PubMed:10805333, ECO:0000269PubMed:11552031, ECO:0000269PubMed:11668643, ECO:0000269PubMed:11814739, ECO:0000269PubMed:16601889, ECO:0000269PubMed:19242930}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Molecular Function

Accession	GO Term
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