InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC25A12

Summary

InnateDB Protein

IDBP-387544.4

Last Modified

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

Gene Symbol

SLC25A12

Protein Name

solute carrier family 25 (mitochondrial carrier, Aralar), member 12

Synonyms

AGC1; ARALAR;

Species

Homo sapiens

Ensembl Protein

ENSP00000388658

InnateDB Gene

IDBG-74991 (SLC25A12)

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:9722566}; Multi-pass membrane protein {ECO:0000269PubMed:9722566}.

Disease Associations

Global cerebral hypomyelination (GCHM) [MIM:612949]: A disorder with onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. {ECO:0000269PubMed:19641205}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

High levels in heart and skeletal muscle, low in brain and very low in kidney. {ECO:0000269PubMed:10369257, ECO:0000269PubMed:9722566}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
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:0015810	aspartate transport
GO:0015813	L-glutamate transport
GO:0043490	malate-aspartate shuttle
GO:0044281	small molecule metabolic process
GO:0051592	response to calcium ion
GO:0055085	transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0016021	integral component of 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