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GALK1 E80*
Stable Identifier
R-HSA-5610003
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Galactokinase , Galactose kinase
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosylation precursor biosynthesis (Homo sapiens)
Defective GALK1 can cause Galactosemia II (GALCT2) (Homo sapiens)
Defective GALK1 does not phosphorylate Gal (Homo sapiens)
GALK1 mutants [cytosol] (Homo sapiens)
GALK1 E80* [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
HGNC:4118 GALK1
KEGG Gene (Homo sapiens):hsa:2584 GALK1
Monarch:2584 GALK1
NCBI Gene:2584 GALK1
OMIM:604313 GALK1
Reference Transcript
RefSeq:NM_000154.1 GALK1
Other Identifiers
0004480092
00052+2.7.1.6
00520+2.7.1.6
11749866_x_at
11755574_a_at
16848873
16960
1WUU
1YH7
204374_s_at
2584
33183_at
3770924
3770927
3770928
3770929
3770931
3770932
3770933
3770934
3770936
3770938
3770940
3770941
7094
8018428
A_23_P141126
CCDS11728
ENSG00000108479
ENSP00000225614
ENSP00000465930
ENST00000225614
ENST00000588479
EntrezGene:2584
GALK1
GALK1-201
GALK1-205
GE57794
GO:0000166
GO:0004335
GO:0005524
GO:0005534
GO:0005737
GO:0005829
GO:0005975
GO:0006012
GO:0008152
GO:0016020
GO:0016301
GO:0016310
GO:0016740
GO:0016773
GO:0019388
GO:0019402
GO:0046835
GO:0061623
GO:0070062
HGNC:4118
HPA007094
HPA016960
Hs.407966
Hs.92357.0.A1_3p_a_at
ILMN_1803194
L76927_rna1_at
MIM:230200
MIM:604313
NM_000154
NP_000145
PF00288
PF08544
PF10509
PH_hs_0019449
PR00473
PR00959
PWY-3821
PWY-6317
PWY-6527
TC17001881.hg
uc002jpk.4
uc032frw.2
UPI000012B056
V9HWE7
Participant Of
hasMember
GALK1 mutants [cytosol]
Other forms of this molecule
GALK1 V32M [cytosol]
GALK1 R256W [cytosol]
GALK1 P28T [cytosol]
GALK1 Q382* [cytosol]
GALK1 [cytosol]
Modified Residues
Name
L-glutamic acid 80 replaced with unknown
Coordinate
80
PsiMod HEY
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name
Identifier
Synonyms
galactosemia
9870
Galactose intolerance, Galactosaemia
Cross References
RefSeq
NP_000145.1
Brenda
2.7.1.6
GeneCards
P51570
ZINC - Substances
GALK1_HUMAN
DOCK Blaster
1WUU
ZINC target
P51570
PRO
P51570
Orphanet
16094
ZINC - Predictions - Purchasable
GALK1_HUMAN
HMDB Protein
HMDBP01379
PDB
1YH7
,
1WUU
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q96N96-6 SPATA13
0.488
2
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