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SLC1A3 C186S [plasma membrane]
Stable Identifier
R-HSA-5625228
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
EAAT1
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC1A3 causes episodic ataxia 6 (EA6) (Homo sapiens)
Defective SLC1A3 does not cotransport L-Glu,L-Asp,D-Asp,H+,3Na+ from extracellular region to cytosol (Homo sapiens)
SLC1A3 mutants [plasma membrane] (Homo sapiens)
SLC1A3 C186S [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P43003 SLC1A3
Gene Names
SLC1A3, EAAT1, GLAST, GLAST1
Chain
chain:1-542
Reference Genes
BioGPS Gene:6507 SLC1A3
COSMIC (genes):SLC1A3 SLC1A3
CTD Gene:6507 SLC1A3
dbSNP Gene:6507 SLC1A3
ENSEMBL:ENSG00000079215 SLC1A3
ENSEMBL_homo_sapiens_GENE:ENSG00000079215.15 SLC1A3
HGNC:10941 SLC1A3
KEGG Gene (Homo sapiens):6507 SLC1A3
Monarch:6507 SLC1A3
NCBI Gene:6507 SLC1A3
OMIM:600111 SLC1A3
UCSC:P43003 SLC1A3
Reference Transcript
RefSeq:XM_005248342.2 SLC1A3
RefSeq:NM_001166695.2 SLC1A3
RefSeq:NM_001289940.1 SLC1A3
RefSeq:NM_004172.4 SLC1A3
Other Identifiers
11726251_a_at
11726252_a_at
11752464_a_at
16984056
202800_PM_at
202800_at
2806650
2806651
2806652
2806653
2806654
2806655
2806656
2806674
2806675
2806702
2806710
2806711
2806712
2806715
2806718
2806721
2806723
2806724
2806725
2806726
36609_at
6507
75246_s_at
8104930
82500_g_at
A_14_P201874
A_23_P250963
A_24_P286114
D26443_at
GE57139
GO:0001504
GO:0003013
GO:0005215
GO:0005313
GO:0005314
GO:0005515
GO:0005886
GO:0006520
GO:0006811
GO:0006836
GO:0006865
GO:0006883
GO:0007268
GO:0007605
GO:0009410
GO:0009416
GO:0009449
GO:0009611
GO:0009925
GO:0009986
GO:0015172
GO:0015175
GO:0015179
GO:0015293
GO:0015501
GO:0015804
GO:0015813
GO:0016020
GO:0016595
GO:0016597
GO:0021545
GO:0023052
GO:0030154
GO:0031223
GO:0031410
GO:0042995
GO:0043005
GO:0043025
GO:0043226
GO:0045202
GO:0046677
GO:0046872
GO:0048471
GO:0048667
GO:0048856
GO:0050806
GO:0050877
GO:0050885
GO:0051938
GO:0055065
GO:0055085
GO:0070633
GO:0070779
GO:0071314
GO:0071805
GO:0071944
GO:0098712
GO:0098796
GO:0140009
GO:0150104
GO:1902476
HMNXSV003010245
HMNXSV003020653
PH_hs_0032928
g4759125_3p_at
Participates
as a member of
SLC1A3 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC1A3 P290R [plasma membrane]
SLC1A3 [plasma membrane]
Modified Residues
Name
L-cysteine 186 replaced with L-serine
Coordinate
186
PsiMod
L-cysteine removal [MOD:01635]
A protein modification that effectively removes or replaces an L-cysteine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name
Identifier
Synonyms
episodic ataxia
DOID:963
Isaacs syndrome
Cross References
RefSeq
NP_004163.3
,
NP_001160167.1
,
XP_005248399.1
,
NP_001276869.1
Guide to Pharmacology - Targets
868
OpenTargets
ENSG00000079215
ZINC - Substances
EAA1_HUMAN
ZINC target
P43003
PRO
P43003
PDB
5LLU
,
5LM4
,
7NPW
,
5LLM
,
5MJU
GeneCards
P43003
HPA
ENSG00000079215-SLC1A3
Ensembl
ENSP00000505057
,
ENSP00000505850
,
ENST00000679983
,
ENST00000679992
,
ENSP00000506585
,
ENSG00000079215
,
ENST00000680125
,
ENST00000381918
,
ENST00000680318
,
ENST00000681926
,
ENST00000265113
,
ENSP00000371343
,
ENSP00000265113
,
ENSP00000506424
,
ENSP00000505238
Pharos - Targets
P43003
Orphanet
18733
ZINC - Predictions - Purchasable
EAA1_HUMAN
HMDB Protein
HMDBP03133
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8WVV5 BTN2A2
1
BTN2A2 [plasma membrane]
(R-HSA-8851047)
0.556
3
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