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GCK E279* [cytosol]
Stable Identifier
R-HSA-5621903
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
glucokinase
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) (Homo sapiens)
Defective GCK does not phosphorylate Glc to form G6P (Homo sapiens)
GCK mutants [cytosol] (Homo sapiens)
GCK E279* [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P35557 GCK
Gene Names
GCK
Chain
chain:1-465
Reference Genes
BioGPS Gene:2645 GCK
COSMIC (genes):GCK GCK
CTD Gene:2645 GCK
dbSNP Gene:2645 GCK
ENSEMBL:ENSG00000106633 GCK
ENSEMBL_homo_sapiens_GENE:ENSG00000106633.18 GCK
HGNC:4195 GCK
KEGG Gene (Homo sapiens):2645 GCK
Monarch:2645 GCK
NCBI Gene:2645 GCK
OMIM:138079 GCK
UCSC:P35557 GCK
Reference Transcript
RefSeq:NM_033507.1 GCK
RefSeq:NM_000162.3 GCK
RefSeq:NM_033508.1 GCK
Other Identifiers
11726222_a_at
17057218
211167_PM_s_at
211167_s_at
2645
3048467
3048469
3048470
3048471
3048472
3048476
3048478
3048480
3048482
3048484
3048486
3048487
3048494
3048495
3048503
3048504
3048505
37807_at
8139314
A_23_P250206
A_33_P3342260
GE535765
GO:0000166
GO:0001678
GO:0003824
GO:0004340
GO:0004396
GO:0005515
GO:0005524
GO:0005536
GO:0005634
GO:0005654
GO:0005737
GO:0005739
GO:0005829
GO:0005975
GO:0006006
GO:0006007
GO:0006091
GO:0006096
GO:0006110
GO:0006739
GO:0008152
GO:0008865
GO:0009749
GO:0016301
GO:0016310
GO:0016740
GO:0016773
GO:0019158
GO:0019318
GO:0023052
GO:0032024
GO:0032869
GO:0042593
GO:0043226
GO:0043266
GO:0044320
GO:0045721
GO:0045725
GO:0046835
GO:0050796
GO:0051156
GO:0055086
GO:0061621
GO:0070509
GO:0141089
GO:1901135
HMNXSV003012345
ILMN_1694472
ILMN_1706775
M90299_at
PH_hs_0000167
TC07001337.hg
g183226_3p_a_at
Participates
as a member of
GCK mutants [cytosol] (Homo sapiens)
Other forms of this molecule
GCK A378T [cytosol]
GCK G261R [cytosol]
GCK E339K [cytosol]
GCK T228M [cytosol]
GCK G229R [cytosol]
GCK [nucleoplasm]
GCK [cytosol]
Modified Residues
Name
Nonsense mutation at L-glutamic acid 279
Coordinate
279
PsiMod
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name
Identifier
Synonyms
maturity-onset diabetes of the young
DOID:0050524
MODY, MASON-TYPE DIABETES
Cross References
RefSeq
NP_277043.1
,
NP_277042.1
,
NP_000153.1
Guide to Pharmacology - Targets
2798
OpenTargets
ENSG00000106633
ZINC - Substances
HXK4_HUMAN
ZINC target
P35557
PRO
P35557
PDB
7T78
,
3A0I
,
4ISG
,
3QIC
,
5V4X
,
4L3Q
,
6E0E
,
3IMX
,
6E0I
,
3ID8
,
4MLE
,
5V4W
,
3VEY
,
4DHY
,
4DCH
,
4ISF
,
3VF6
,
4ISE
,
4LC9
,
3GOI
,
4NO7
,
3F9M
,
3VEV
,
3S41
,
3FGU
,
4IXC
,
4IWV
,
4MLH
,
3H1V
,
1V4T
,
1V4S
,
4RCH
,
3FR0
,
7T79
,
3IDH
ZINC - Investigational
HXK4_HUMAN
IntEnz
2.7.1.1
HPA
ENSG00000106633-GCK
GeneCards
P35557
Ensembl
ENSP00000384247
,
ENST00000345378
,
ENSG00000106633
,
ENSP00000223366
,
ENST00000403799
Pharos - Targets
P35557
ZINC - Predictions - Purchasable
HXK4_HUMAN
Orphanet
16110
HMDB Protein
HMDBP00210
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q14397 GCKR
2
GCKR [cytosol]
(R-HSA-170818)
GCKR [nucleoplasm]
(R-HSA-170805)
0.719
5
UniProt:P16118 PFKFB1
2
PFKFB1 [cytosol]
(R-HSA-71785)
p-S33-PFKFB1 [cytosol]
(R-HSA-163749)
0.558
2
UniProt:A6NLX3 SPDE4
0.556
3
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