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SLC5A1 G100V [plasma membrane]
Stable Identifier
R-HSA-5656373
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
SGLT1, Sodium/glucose cotransporter 1
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM) (Homo sapiens)
Defective SLC5A1 does not cotransport Glc and Na+ (Homo sapiens)
SLC5A1 mutants [plasma membrane] (Homo sapiens)
SLC5A1 G100V [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:P13866 SLC5A1
Gene Names
SLC5A1, NAGT, SGLT1
Chain
chain:1-664
Reference Genes
BioGPS Gene:6523 SLC5A1
COSMIC (genes):SLC5A1 SLC5A1
CTD Gene:6523 SLC5A1
dbSNP Gene:6523 SLC5A1
ENSEMBL:ENSG00000100170 SLC5A1
HGNC:11036 SLC5A1
KEGG:hsa:6523 SLC5A1
Monarch:6523 SLC5A1
NCBI Gene:6523 SLC5A1
OMIM:182380 SLC5A1
UCSC:P13866 SLC5A1
Reference Transcript
RefSeq:NM_000343.3 SLC5A1
RefSeq:NM_001256314.1 SLC5A1
Other Identifiers
11736296_at
11736297_a_at
11748253_a_at
16929368
206628_PM_at
206628_at
242773_PM_at
242773_at
35906_at
3943239
3943240
3943241
3943243
3943244
3943245
3943246
3943248
3943249
3943251
3943252
3943253
3943254
3943255
3943256
3943257
3943258
3943259
3943260
3943261
3943262
3943263
3943264
3943265
3943266
3943267
6523
67635_r_at
8072587
83147_at
A_14_P119158
A_23_P17826
GE581089
GE60492
GO:0000017
GO:0001951
GO:0003013
GO:0003014
GO:0005215
GO:0005354
GO:0005355
GO:0005367
GO:0005372
GO:0005412
GO:0005515
GO:0005768
GO:0005769
GO:0005886
GO:0006814
GO:0015146
GO:0015150
GO:0015151
GO:0015293
GO:0015370
GO:0015371
GO:0015750
GO:0015756
GO:0015757
GO:0015798
GO:0016020
GO:0016324
GO:0022600
GO:0022857
GO:0031410
GO:0031526
GO:0035377
GO:0035623
GO:0043226
GO:0043229
GO:0048471
GO:0055056
GO:0055085
GO:0070062
GO:0097708
GO:0098708
GO:0098719
GO:0106001
GO:0150104
GO:1904659
HMNXSV003035150
Hs.149429.0.A1_3p_at
ILMN_1681526
L29339_at
PH_hs_0000261
TC22000237.hg
TC22001076.hg
TC22001077.hg
g4507030_3p_at
Participates
as a member of
SLC5A1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC5A1 [plasma membrane]
SLC5A1 Y191* [plasma membrane]
SLC5A1 Q457R [plasma membrane]
SLC5A1 R379* [plasma membrane]
SLC5A1 D28G [plasma membrane]
SLC5A1 R135W [plasma membrane]
SLC5A1 D28N [plasma membrane]
Modified Residues
Name
glycine 100 replaced with L-valine
Coordinate
100
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
glucose intolerance
DOID:10603
Malabsorption of glucose (disorder), Glucose: [intolerance] or [malabsorption]
Cross References
ZINC - World Drugs
SC5A1_HUMAN
Guide to Pharmacology - Targets
915
OpenTargets
ENSG00000100170
ENSEMBL
ENST00000266088
,
ENSP00000444898
,
ENST00000543737
,
ENSP00000266088
ZINC - FDA approved
SC5A1_HUMAN
ZINC - Substances
SC5A1_HUMAN
ZINC - Biogenic
SC5A1_HUMAN
ZINC target
P13866
PRO
P13866
GlyGen
P13866
PDB
7YNI
,
7SLA
,
7SL8
,
7WMV
ZINC - Investigational
SC5A1_HUMAN
ZINC - Metabolites
SC5A1_HUMAN
HPA
ENSG00000100170-SLC5A1
Pharos - Targets
P13866
Orphanet
SLC5A1
ZINC - Predictions - Purchasable
SC5A1_HUMAN
HMDB Protein
HMDBP02902
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P00533 EGFR
20
p-6Y-EGFR [clathrin-coated endocytic vesicle membrane]
(R-HSA-8869138)
p-5Y-EGFRvIII [plasma membrane]
(R-HSA-1248649)
EGFRvIII [plasma membrane]
(R-HSA-1214162)
p-6Y-EGFR E746_A750del;T790M [plasma membrane]
(R-HSA-1182985)
p-6Y-EGFR L858R;T790M [plasma membrane]
(R-HSA-1182984)
p-6Y-EGFR A767_V769dup [plasma membrane]
(R-HSA-1996343)
p-6Y-EGFR N771_H773dup [plasma membrane]
(R-HSA-1996342)
p-6Y-EGFR K739_I744dup [plasma membrane]
(R-HSA-1996346)
p-6Y-EGFR D770_N771insNPG [plasma membrane]
(R-HSA-1996335)
p-6Y-EGFR E746_A750del [plasma membrane]
(R-HSA-1181214)
p-6Y-EGFR L858R [plasma membrane]
(R-HSA-1173211)
p-6Y-EGFR G719S [plasma membrane]
(R-HSA-1169417)
p-6Y-EGFR L747_P753delinsS [plasma membrane]
(R-HSA-1228038)
p-6Y-EGFR L747_A750delinsP [plasma membrane]
(R-HSA-1228044)
p-6Y-EGFR L747_T751del [plasma membrane]
(R-HSA-1228041)
p-6Y-EGFR L747_S752del [plasma membrane]
(R-HSA-1228040)
p-6Y-EGFR L747_T751delinsP [plasma membrane]
(R-HSA-1228042)
p-6Y-EGFR E746_T751delinsA [plasma membrane]
(R-HSA-1228037)
p-6Y-EGFR E746_S752delinsV [plasma membrane]
(R-HSA-1228039)
p-6Y-EGFR L861Q [plasma membrane]
(R-HSA-1177541)
0.524
3
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