InnateDB Protein
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IDBP-45969.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC1A1
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Protein Name
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solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
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Synonyms
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DCBXA; EAAC1; EAAT3; SCZD18;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000262352
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InnateDB Gene
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IDBG-45967 (SLC1A1)
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Protein Structure
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Function |
Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium. Negatively regulated by ARL6IP5 (By similarity). {ECO:0000250}.
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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Disease Associations |
Schizophrenia 18 (SCZD18) [MIM:615232]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269PubMed:21982423, ECO:0000269PubMed:23341099}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A deletion at the chromosome 9p24.2 locus, including SLC1A1, has been identified in patients with psychotic disorders (PubMed:21982423). This 84 kb deletion is immediately upstream of the SLC1A1 gene in a regulatory region that contains the full native promoter sequence, extends through exon 1 of the SLC1A1 mRNA, co-segregates with disease in an extended 5-generation pedigree and increases disease risk more than 18-fold for family members (PubMed:23341099). {ECO:0000269PubMed:21982423, ECO:0000269PubMed:23341099}.
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Tissue Specificity |
Expressed in all tissues tested including liver, muscle, testis, ovary, retinoblastoma cell line, neurons and brain (in which there was dense expression in substantia nigra, red nucleus, hippocampus and in cerebral cortical layers). {ECO:0000269PubMed:7521911, ECO:0000269PubMed:7859077, ECO:0000269PubMed:7914198}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001991
Sodium:dicarboxylate symporter
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PFAM |
PF00375
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PRINTS |
PR00173
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P43005
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PhosphoSite |
PhosphoSite-P43005
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6505
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UniGene |
Hs.662818
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RefSeq |
NP_004161
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HUGO |
HGNC:10939
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OMIM |
133550
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CCDS |
CCDS6452
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HPRD |
00597
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IMGT |
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EMBL |
AB008536
AF037982
AF074903
AF074904
AF074905
AF074906
AF074907
AF074908
AF074909
AF074910
AF074911
AF143773
AL136231
AL162587
BC033040
U03506
U06469
U08989
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GenPept |
AAA50430
AAA53215
AAA68628
AAC25029
AAC27511
AAH33040
BAB83767
CAH71965
CAI41264
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