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SLC2A1 K456*
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
1562197
Mammalian facilitative glucose transporter family: structure and molecular regulation.
Annu Rev Physiol
1992
11681785
Structural analysis of the GLUT1 facilitative glucose transporter (review).
Mol Membr Biol
2001
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
HGNC:11005 SLC2A1
KEGG Gene (Homo sapiens):hsa:6513 SLC2A1
Monarch:6513 SLC2A1
NCBI Gene:6513 SLC2A1
OMIM:138140 SLC2A1
UCSC:P11166 SLC2A1
Reference Transcript
RefSeq:NM_006516.2 SLC2A1
Other Identifiers
0006370538
11716815_at
11752572_a_at
11756056_a_at
11756238_s_at
16686060
1SUK
201249_at
201250_s_at
2759
31345
40507_at
4PYP
58494
5EQG
5EQH
5EQI
6513
7915472
A_23_P571
AAA52571
AAB61084
AAC28635
AAI18591
AAK56795
AF070544
AK292791
AK312403
AY034633
BAF85480
BAG35317
BC118590
CAB002759
CCDS477
CH471059
EAX07124
ENSG00000117394
ENSP00000416293
ENST00000426263
EntrezGene:6513
g5730050_3p_a_at
GE57541
GO:0000139
GO:0001939
GO:0005215
GO:0005355
GO:0005515
GO:0005622
GO:0005737
GO:0005829
GO:0005886
GO:0005887
GO:0005901
GO:0005911
GO:0005989
GO:0006461
GO:0006810
GO:0006970
GO:0007565
GO:0008643
GO:0010827
GO:0014704
GO:0015758
GO:0016020
GO:0016021
GO:0016323
GO:0016324
GO:0019852
GO:0019900
GO:0021987
GO:0022857
GO:0022891
GO:0030018
GO:0030496
GO:0030864
GO:0031982
GO:0032868
GO:0033300
GO:0042149
GO:0042383
GO:0042470
GO:0042802
GO:0042908
GO:0042910
GO:0043621
GO:0045121
GO:0050796
GO:0055056
GO:0055085
GO:0070062
GO:0070837
GO:0071260
GO:0071474
GO:0072562
GO:1904016
GO:1904659
HGNC:11005
HPA031345
HPA058494
Hs.473721
ILMN_1659027
ILMN_1809256
IPR002439
IPR003663
IPR005828
IPR005829
IPR020846
K03195
K03195_at
M20653
MIM:138140
MIM:608885
NM_006516
NP_006507
PF00083
PR00171
PR01190
SLC2A1
SLC2A1-203
TC01002578.hg
uc001cik.3
UPI00002058B9
Participant Of
hasMember
SLC2A1 mutants [plasma membrane]
Other forms of this molecule
SLC2A1 S342L [plasma membrane]
SLC2A1 R223P [plasma membrane]
SLC2A1 R126L [plasma membrane]
SLC2A1 Y449* [plasma membrane]
SLC2A1 K256V [plasma membrane]
SLC2A1 [Golgi membrane]
SLC2A1 [plasma membrane]
Modified Residues
Name
L-lysine 456 replaced with unknown
Coordinate
456
PsiMod HEY
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
Disease
Name
Identifier
Synonyms
infantile epileptic encephalopathy
2481
infantile spasm
Cross References
RefSeq
NP_006507.2
ZINC - Substances
GTR1_HUMAN
GeneCards
P11166
DOCK Blaster
5EQI
,
5EQH
,
5EQG
,
4PYP
ZINC target
P11166
ZINC - Biogenic
GTR1_HUMAN
PRO
P11166
ZINC - Predictions - Purchasable
GTR1_HUMAN
Orphanet
17205
HMDB Protein
HMDBP02114
PDB
5EQG
,
5EQH
,
1SUK
,
5EQI
,
4PYP
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P19320 VCAM1
1
VCAM1 [plasma membrane]
(R-HSA-197834)
0.527
4
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