GALK1 Q382*

Stable Identifier
R-HSA-5610007
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Galactokinase , Galactose kinase
Locations in the PathwayBrowser
Expand all
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
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
Other forms of this molecule
GALK1 V32M [cytosol]
GALK1 R256W [cytosol]
GALK1 P28T [cytosol]
GALK1 E80* [cytosol]
GALK1 [cytosol]
Modified Residues
Name
L-glutamine 382 replaced with unknown
Coordinate
382
PsiMod HEY
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
galactosemia 9870 Galactose intolerance, Galactosaemia
Cross References
RefSeq
Brenda
GeneCards
ZINC - Substances
DOCK Blaster
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
PDB
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96N96-6 SPATA13      0.488 2