Homo sapiens Protein: SLC25A13 | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-27957.6 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | SLC25A13 | ||||||||||||||||||||||||
Protein Name | solute carrier family 25, member 13 (citrin) | ||||||||||||||||||||||||
Synonyms | ARALAR2; CITRIN; CTLN2; | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000265631 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-27955 (SLC25A13) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. {ECO:0000269PubMed:11566871}. | ||||||||||||||||||||||||
Subcellular Localization | Mitochondrion inner membrane {ECO:0000269PubMed:10642534}; Multi-pass membrane protein {ECO:0000269PubMed:10642534}. | ||||||||||||||||||||||||
Disease Associations | Citrullinemia 2 (CTLN2) [MIM:603471]: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. {ECO:0000269PubMed:10369257, ECO:0000269PubMed:10610724}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. {ECO:0000269PubMed:11793471}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||
Tissue Specificity | High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. {ECO:0000269PubMed:10369257, ECO:0000269PubMed:10642534}. | ||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR002048
EF-hand domain IPR002067 Mitochondrial carrier protein IPR018108 Mitochondrial substrate/solute carrier IPR023395 Mitochondrial carrier domain |
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PFAM |
PF00036
PF13202 PF13405 PF00153 |
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PRINTS |
PR00926
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PIRSF | |||||||||||||||||||||||||
SMART |
SM00054
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TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | Q9UJS0 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9UJS0 | ||||||||||||||||||||||||
TrEMBL | Q75KX8 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 10165 | ||||||||||||||||||||||||
UniGene | Hs.489190 | ||||||||||||||||||||||||
RefSeq | NP_055066 | ||||||||||||||||||||||||
HUGO | HGNC:10983 | ||||||||||||||||||||||||
OMIM | 603859 | ||||||||||||||||||||||||
CCDS | CCDS5645 | ||||||||||||||||||||||||
HPRD | 04837 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AC002450 AC002540 AC004458 AC084368 AC096775 AF118838 AH009104 AJ496569 BC006566 CH471091 Y17571 | ||||||||||||||||||||||||
GenPept | AAB67049 AAB70112 AAD38501 AAF28473 AAH06566 AAS07527 CAB62206 CAD43091 EAW76748 | ||||||||||||||||||||||||