InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC1A1

Summary

InnateDB Protein

IDBP-45969.5

Last Modified

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

Gene Symbol

SLC1A1

Protein Name

solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

Synonyms

DCBXA; EAAC1; EAAT3; SCZD18;

Species

Homo sapiens

Ensembl Protein

ENSP00000262352

InnateDB Gene

IDBG-45967 (SLC1A1)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Membrane; Multi-pass membrane protein.

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}.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	5 [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:0005515	protein binding
GO:0015501	glutamate:sodium symporter activity
GO:0016595	glutamate binding
GO:0017153	sodium:dicarboxylate symporter activity

Biological Process

GO:0006811	ion transport
GO:0006835	dicarboxylic acid transport
GO:0007268	synaptic transmission
GO:0015813	L-glutamate transport
GO:0051260	protein homooligomerization
GO:0051938	L-glutamate import
GO:0055085	transmembrane transport
GO:0070779	D-aspartate import