InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC25A13

Summary

InnateDB Protein

IDBP-382389.5

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

ENSP00000400101

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.

Experimentally validated
Total	28 [view]
Protein-Protein	26 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005313	L-glutamate transmembrane transporter activity
GO:0005509	calcium ion binding
GO:0015183	L-aspartate transmembrane transporter activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006006	glucose metabolic process
GO:0006094	gluconeogenesis
GO:0006754	ATP biosynthetic process
GO:0006810	transport
GO:0015810	aspartate transport
GO:0015813	L-glutamate transport
GO:0043490	malate-aspartate shuttle
GO:0044281	small molecule metabolic process
GO:0045333	cellular respiration
GO:0051592	response to calcium ion
GO:0055085	transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005887	integral component of plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002048 EF-hand domain
IPR002067 Mitochondrial carrier protein
IPR018108 Mitochondrial substrate/solute carrier
IPR023395 Mitochondrial carrier domain

PFAM

PF00036
PF13202
PF13405
PF00153

PRINTS

PR00926

PIRSF

SMART

SM00054

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt