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
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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: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
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
HMNXSV003048639
ILMN_1659027
K03195_at
TC01002578.hg
g5730050_3p_a_at
Participates
as a member of
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
Guide to Pharmacology - Targets
875
OpenTargets
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
PDB
ZINC - Investigational
ZINC - Metabolites
HPA
GeneCards
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (2)
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