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GALK1 Q382* [cytosol]
Stable Identifier
R-HSA-5610007
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Galactokinase , Galactose kinase
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective GALK1 causes GALCT2 (Homo sapiens)
Defective GALK1 does not phosphorylate Gal (Homo sapiens)
GALK1 mutants [cytosol] (Homo sapiens)
GALK1 Q382* [cytosol] (Homo sapiens)
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
ENSEMBL:ENSG00000108479.13 GALK1
HGNC:4118 GALK1
Monarch:2584 GALK1
NCBI Gene:2584 GALK1
OMIM:604313 GALK1
Reference Transcript
RefSeq:NM_000154.1 GALK1
Other Identifiers
11749866_x_at
11755574_a_at
16848873
204374_PM_s_at
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:0003824
GO:0004335
GO:0005515
GO:0005524
GO:0005534
GO:0005576
GO:0005615
GO:0005737
GO:0005829
GO:0005975
GO:0006012
GO:0006091
GO:0016020
GO:0016301
GO:0016310
GO:0016740
GO:0016773
GO:0019388
GO:0019402
GO:0033499
GO:0043226
GO:0044238
GO:0046835
GO:0055086
GO:0061623
GO:0070062
GO:0071704
GO:1901135
HMNXSV003008380
Hs.92357.0.A1_3p_a_at
ILMN_1803194
L76927_rna1_at
PH_hs_0019449
TC17001881.hg
Participates
as a member of
GALK1 mutants [cytosol] (Homo sapiens)
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
RefSeq
NP_000145.1
OpenTargets
ENSG00000108479
ZINC - Substances
GALK1_HUMAN
ZINC target
P51570
PRO
P51570
PDB
6ZGV
,
6GR2
,
6Q8Z
,
7RCM
,
6ZGZ
,
6Q91
,
6ZGW
,
7OZX
,
6Q3W
,
7S49
,
6ZFH
,
6QJE
,
6ZGX
,
1WUU
,
7S4C
,
7RCL
,
6ZH0
,
6Q3X
,
6Q90
,
6ZGY
HPA
ENSG00000108479-GALK1
GeneCards
P51570
Ensembl
ENST00000588479
,
ENST00000225614
,
ENSG00000108479
,
ENSP00000465930
,
ENSP00000225614
Pharos - Targets
P51570
Orphanet
16094
ZINC - Predictions - Purchasable
GALK1_HUMAN
HMDB Protein
HMDBP01379
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9NPJ4 PNRC2
1
PNRC2 [cytosol]
(R-HSA-8879146)
0.556
3
UniProt:Q96N96-6 SPATA13
0.488
2
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