GALK1 Q382* [cytosol]

Stable Identifier
R-HSA-5610007
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Galactokinase , Galactose kinase
Icon
GALK1 Q382* [cytosol] icon
GALK1 Q382* [cytosol] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P51570 GALK1
Gene Names
GALK1, GALK
Chain
chain:1-392
Reference Genes
BioGPS Gene:2584 GALK1
COSMIC (genes):GALK1 GALK1
CTD Gene:2584 GALK1
dbSNP Gene:2584 GALK1
ENSEMBL:ENSG00000108479 GALK1
HGNC:4118 GALK1
Monarch:2584 GALK1
NCBI Gene:2584 GALK1
OMIM:604313 GALK1
Other Identifiers
0004480092
11749866_x_at
11755574_a_at
16848873
204374_s_at
2584
33183_at
3770924
3770926
3770927
3770928
3770929
3770931
3770932
3770933
3770934
3770936
3770938
3770940
8018428
A_23_P141126
GE57794
GO:0000166
GO:0003674
GO:0004335
GO:0005515
GO:0005524
GO:0005534
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005829
GO:0005975
GO:0006012
GO:0006091
GO:0008150
GO:0009056
GO:0016020
GO:0016301
GO:0016310
GO:0016740
GO:0016773
GO:0019388
GO:0019402
GO:0034641
GO:0043167
GO:0043226
GO:0044281
GO:0046835
GO:0061623
GO:0070062
HMNXSV003008380
Hs.92357.0.A1_3p_a_at
ILMN_1803194
L76927_rna1_at
PH_hs_0019449
TC17001881.hg
Participates
as a member of
Other forms of this molecule
GALK1 V32M [cytosol]
GALK1 R256W [cytosol]
GALK1 P28T [cytosol]
GALK1 E80* [cytosol]
GALK1 [cytosol]
Modified Residues
Name
Nonsense mutation at L-glutamine 382
Coordinate
382
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
galactosemia DOID:9870 Galactose intolerance, Galactosaemia
Cross References
OpenTargets
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
GeneCards
HPA
Ensembl
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q9NPJ4 PNRC2  1 0.556 3
 UniProt:Q96N96-6 SPATA13      0.488 2
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