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SLC2A1 K456* [plasma membrane]
Stable Identifier
R-HSA-5632827
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
GLUT1, Solute carrier family 2, facilitated glucose transporter, member 1, Glucose transporter type 1, erythrocyte/brain, HepG2 glucose transporter
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) (Homo sapiens)
SLC2A1 tetramer does not transport Glc from extracellular region to cytosol (Homo sapiens)
SLC2A1 mutants [plasma membrane] (Homo sapiens)
SLC2A1 K456* [plasma membrane] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
11681785
Structural analysis of the GLUT1 facilitative glucose transporter (review).
Hruz, PW
,
Mueckler, MM
Mol Membr Biol
2001
1562197
Mammalian facilitative glucose transporter family: structure and molecular regulation.
Pessin, JE
,
Bell, GI
Annu Rev Physiol
1992
External Reference Information
External Reference
UniProt:P11166 SLC2A1
Gene Names
SLC2A1, GLUT1
Chain
chain:1-492
Reference Genes
BioGPS Gene:6513 SLC2A1
COSMIC (genes):SLC2A1 SLC2A1
CTD Gene:6513 SLC2A1
dbSNP Gene:6513 SLC2A1
ENSEMBL:ENSG00000117394 SLC2A1
ENSEMBL_homo_sapiens_GENE:ENSG00000117394.24 SLC2A1
HGNC:11005 SLC2A1
KEGG Gene (Homo sapiens):6513 SLC2A1
Monarch:6513 SLC2A1
NCBI Gene:6513 SLC2A1
OMIM:138140 SLC2A1
UCSC:P11166 SLC2A1
Reference Transcript
RefSeq:NM_006516.2 SLC2A1
Other Identifiers
11716815_at
11752572_a_at
11756056_a_at
11756238_s_at
16686060
201249_PM_at
201249_at
201250_PM_s_at
201250_s_at
2409109
2409110
2409111
2409112
2409113
2409114
2409115
2409116
2409117
2409118
2409119
2409120
2409122
2409123
2409124
2409127
2409128
2409130
2409133
2409139
2409153
2409154
2409155
40507_at
6513
7915472
A_23_P571
GE57541
GO:0000139
GO:0001666
GO:0001674
GO:0001917
GO:0001939
GO:0003013
GO:0005215
GO:0005324
GO:0005355
GO:0005515
GO:0005576
GO:0005615
GO:0005634
GO:0005737
GO:0005794
GO:0005829
GO:0005856
GO:0005886
GO:0005901
GO:0005911
GO:0005975
GO:0006766
GO:0007417
GO:0007565
GO:0008643
GO:0014704
GO:0015911
GO:0016020
GO:0016323
GO:0016324
GO:0019852
GO:0019900
GO:0021987
GO:0022414
GO:0022857
GO:0030018
GO:0030496
GO:0030864
GO:0031410
GO:0031982
GO:0032868
GO:0033300
GO:0042149
GO:0042383
GO:0042470
GO:0042802
GO:0042908
GO:0042910
GO:0043226
GO:0043621
GO:0045121
GO:0045202
GO:0045494
GO:0046323
GO:0048856
GO:0055056
GO:0055085
GO:0065003
GO:0070062
GO:0070837
GO:0071260
GO:0071474
GO:0072562
GO:0098708
GO:0098793
GO:0150104
GO:1904016
GO:1904659
GO:1990350
HMNXSV003048639
ILMN_1659027
K03195_at
TC01002578.hg
g5730050_3p_a_at
Participates
as a member of
SLC2A1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC2A1 S342L [plasma membrane]
SLC2A1 [plasma membrane]
SLC2A1 [Golgi membrane]
SLC2A1 K256V [plasma membrane]
SLC2A1 Y449* [plasma membrane]
SLC2A1 R126L [plasma membrane]
SLC2A1 R223P [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-lysine 456
Coordinate
456
PsiMod
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
Disease
Name
Identifier
Synonyms
early infantile epileptic encephalopathy
DOID:0050709
infantile spasm
Cross References
RefSeq
NP_006507.2
Guide to Pharmacology - Targets
875
OpenTargets
ENSG00000117394
ZINC - Substances
GTR1_HUMAN
ZINC target
P11166
ZINC - Biogenic
GTR1_HUMAN
PRO
P11166
PDB
5EQI
,
5EQG
,
4PYP
,
6THA
,
5EQH
ZINC - Investigational
GTR1_HUMAN
ZINC - Metabolites
GTR1_HUMAN
GeneCards
P11166
HPA
ENSG00000117394-SLC2A1
Ensembl
ENSG00000117394
,
ENSP00000416293
,
ENST00000426263
Pharos - Targets
P11166
Orphanet
17205
ZINC - Predictions - Purchasable
GTR1_HUMAN
HMDB Protein
HMDBP02114
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P19320 VCAM1
1
VCAM1 [plasma membrane]
(R-HSA-197834)
0.527
4
UniProt:P13569 CFTR
17
PolyUb-CFTR [clathrin-coated endocytic vesicle membrane]
(R-HSA-8869104)
PolyUb-CFTR [plasma membrane]
(R-HSA-8867595)
CFTR [lysosomal membrane]
(R-HSA-5627279)
CFTR [Golgi-associated vesicle membrane]
(R-HSA-5627079)
CFTR [endosome membrane]
(R-HSA-6782965)
PolyUb-CFTR [endosome membrane]
(R-HSA-6782976)
CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866834)
ub-CFTR F508del [cytosol]
(R-HSA-8866838)
ub-CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866842)
CFTR G542* [plasma membrane]
(R-HSA-5678986)
CFTR G551D [plasma membrane]
(R-HSA-5678977)
CFTR W1282* [plasma membrane]
(R-HSA-5678976)
CFTR F508del [plasma membrane]
(R-HSA-5678978)
CFTR N1303K [plasma membrane]
(R-HSA-5678983)
CFTR [plasma membrane]
(R-HSA-383188)
CFTR [endoplasmic reticulum membrane]
(R-HSA-8866837)
misfolded CFTR [endoplasmic reticulum membrane]
(R-HSA-8868730)
0.483
2
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