Homo sapiens Protein: SLC25A22
Summary
InnateDB Protein IDBP-591237.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC25A22
Protein Name solute carrier family 25 (mitochondrial carrier: glutamate), member 22
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000437236
InnateDB Gene IDBG-18043 (SLC25A22)
Protein Structure
UniProt Annotation
Function Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+). {ECO:0000269PubMed:11897791}.
Subcellular Localization Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations Epileptic encephalopathy, early infantile, 3 (EIEE3) [MIM:609304]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high- voltage bursts alternating with almost flat suppression phases. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. {ECO:0000269PubMed:15592994}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in most tissues.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005313 L-glutamate transmembrane transporter activity
GO:0015293 symporter activity
Biological Process
GO:0006810 transport
GO:0015813 L-glutamate transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR002067 Mitochondrial carrier protein
IPR018108 Mitochondrial substrate/solute carrier
IPR023395 Mitochondrial carrier domain
PFAM PF00153
PRINTS PR00926
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H936
PhosphoSite PhosphoSite-Q9H936
TrEMBL K4DIB8
UniProt Splice Variant
Entrez Gene 79751
UniGene
RefSeq NP_001177989
HUGO HGNC:19954
OMIM 609302
CCDS CCDS7715
HPRD 15356
IMGT
EMBL AJ428202 AK023106 AK290481 AP006621 BC019033 BC023545 BC024212
GenPept AAH19033 AAH23545 AAH24212 BAB14407 BAF83170 CAD21007