SLC1A2

Protein identityUniProt · HPA

UniProt accession

P43004

Gene

SLC1A2

Ensembl

ENSG00000110436

Chromosome

11

Canonical length

574 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Quaternary structure

Homotrimer

OverviewNCBI Gene

This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]

Canonical amino-acid sequenceUniProt

574 residues, UniProt reviewed canonical sequence.

>P43004|SLC1A2
     1  MASTEGANNM PKQVEVRMHD SHLGSEEPKH RHLGLRLCDK LGKNLLLTLT VFGVILGAVC
    61  GGLLRLASPI HPDVVMLIAF PGDILMRMLK MLILPLIISS LITGLSGLDA KASGRLGTRA
   121  MVYYMSTTII AAVLGVILVL AIHPGNPKLK KQLGPGKKND EVSSLDAFLD LIRNLFPENL
   181  VQACFQQIQT VTKKVLVAPP PDEEANATSA VVSLLNETVT EVPEETKMVI KKGLEFKDGM
   241  NVLGLIGFFI AFGIAMGKMG DQAKLMVDFF NILNEIVMKL VIMIMWYSPL GIACLICGKI
   301  IAIKDLEVVA RQLGMYMVTV IIGLIIHGGI FLPLIYFVVT RKNPFSFFAG IFQAWITALG
   361  TASSAGTLPV TFRCLEENLG IDKRVTRFVL PVGATINMDG TALYEAVAAI FIAQMNGVVL
   421  DGGQIVTVSL TATLASVGAA SIPSAGLVTM LLILTAVGLP TEDISLLVAV DWLLDRMRTS
   481  VNVVGDSFGA GIVYHLSKSE LDTIDSQHRV HEDIEMTKTQ SIYDDMKNHR ESNSNQCVYA
   541  AHNSVIVDEC KVTLAANGKS ADCSVEEEPW KREK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC1A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

8

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

1,025 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC1A2.

Disease | AllUniProt

Conditions SLC1A2 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 41 (DEE41) MIM:617105

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 539 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy, 41

ReferencesPubMed · IEDB

Publications for SLC1A2 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.42

gnomAD pLI

0.71

gnomAD missense Z

2.28

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult behavior
• cellular response to cocaine
• chemical synaptic transmission
• D-aspartate import across plasma membrane
• glutathione biosynthetic process
• L-aspartate import across plasma membrane
• L-aspartate transmembrane transport
• L-glutamate import across plasma membrane
• L-glutamate transmembrane transport
• monoatomic ion transport
• multicellular organism growth
• neurotransmitter transport
• positive regulation of D-glucose import
• protein homotrimerization
• response to amino acid
• response to wounding
• response to xenobiotic stimulus
• telencephalon development
• transepithelial transport
• transport across blood-brain barrier
• visual behavior
• neurotransmitter reuptake

Molecular functions

• cysteine transmembrane transporter activity
• glutamate:sodium symporter activity
• high-affinity L-glutamate transmembrane transporter activity
• L-glutamate transmembrane transporter activity
• metal ion binding
• monoatomic anion transmembrane transporter activity
• neutral L-amino acid transmembrane transporter activity

Cellular components

• astrocyte projection
• axolemma
• cell body
• cell surface
• glutamatergic synapse
• membrane
• membrane protein complex
• membrane raft
• neuron projection terminus
• plasma membrane
• presynaptic membrane
• vesicle

Protein domainsUniProt · Pfam · InterPro

• Sodium:dicarboxylate symporter
• Sodium:dicarboxylate symporter, conserved site
• Sodium:dicarboxylate symporter superfamily
• Dicarboxylate/Amino Acid:Cation Symporter
• Sodium:dicarboxylate symporter family

KeywordsUniProt

• Amino-acid transport
• Cell membrane
• Chloride
• Epilepsy
• Glycoprotein
• Lipoprotein
• Membrane
• Metal-binding
• Palmitate
• Phosphoprotein
• Potassium
• Sodium
• Symport
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of SLC1A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AJUBA