SLC1A1 I395del

Stable Identifier
R-HSA-5625023
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
EAAC1, EAAT3
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC1A1, EAAC1, EAAT3
Chain
chain:1-524
Reference Transcript
Other Identifiers
0000840358
11721351_at
11721352_at
15466
17083261
20086
206396_at
213664_at
3160659
3160660
3160674
3160684
3160685
3160687
3160688
3160689
3160690
3160691
3160692
3160697
3160699
3160700
3160701
38267_at
38268_at
6505
8154135
A_14_P105964
A_23_P216468
A_24_P232252
CAB015466
CCDS6452
ENSG00000106688
ENSP00000262352
ENST00000262352
EntrezGene:6505
g4759121_3p_at
GE58898
GO:0005313
GO:0005314
GO:0005515
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006865
GO:0007268
GO:0010460
GO:0014047
GO:0015108
GO:0015171
GO:0015293
GO:0015501
GO:0015813
GO:0016020
GO:0016021
GO:0016324
GO:0016595
GO:0033229
GO:0042883
GO:0046872
GO:0051260
GO:0051938
GO:0070062
GO:0070779
GO:0089711
GO:0098712
GO:0140009
GO:0140016
GO:1902476
GO:1903712
HGNC:10939
HPA020086
Hs.444915
Hs.91139.1.A1_3p_at
ILMN_1658917
MIM:133550
MIM:615232
NM_004170
NP_004161
PF00375
PH_hs_0005070
PR00173
SLC1A1
SLC1A1-201
TC09000029.hg
U08989_at
uc003zij.3
UPI0000129B16
XM_011518007
XM_011518008
XM_011518009
XM_011518010
XM_017015042
XM_017015043
XP_011516309
XP_011516310
XP_011516311
XP_011516312
XP_016870531
XP_016870532
Participant Of
Other forms of this molecule
Modified Residues
Name
Deletion of residues 395 to 395
Disease
Name Identifier Synonyms
amino acid metabolic disorder 9252 inborn errors of amino acid metabolism
Cross References
RefSeq
ZINC - Metabolites
ZINC - World Drugs
ZINC - FDA approved
ZINC - Substances
GeneCards
ZINC - Biogenic
ZINC target
PRO
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein