GALT Q188R [cytosol]

Stable Identifier
R-HSA-5610008
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Galactose-1-phosphate uridylyltransferase
Icon
GALT Q188R [cytosol] icon
GALT Q188R [cytosol] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
11261429 The molecular biology of galactosemia.

Elsas, LJ, Lai, K

Genet Med 2001
External Reference Information
External Reference
UniProt:P07902 GALT
Gene Names
GALT
Chain
chain:1-379
Reference Genes
BioGPS Gene:2592 GALT
COSMIC (genes):GALT GALT
CTD Gene:2592 GALT
dbSNP Gene:2592 GALT
ENSEMBL:ENSG00000213930 GALT
HGNC:4135 GALT
KEGG:hsa:2592 GALT
Monarch:2592 GALT
NCBI Gene:2592 GALT
OMIM:606999 GALT
UCSC:P07902 GALT
Reference Transcript
Other Identifiers
11753952_a_at
17084493
203179_PM_at
203179_at
232708_PM_at
232708_at
242734_3p_x_at
242734_PM_x_at
242734_x_at
2592
3167512
3167515
3167516
3167517
3167518
3167519
3167520
3167521
3167522
3167523
3167524
3167525
3167526
3167527
3167528
3167529
3167530
3167531
3167532
3167533
3167534
3167535
3167536
3167537
3167538
3167539
3167540
3167541
3167542
3167543
3167544
3167545
3167546
3167547
3167548
3167549
3167554
36664_at
8154916
89718_at
A_14_P100216
A_23_P502035
A_24_P12865
A_33_P3220415
GE57998
GO:0003824
GO:0005515
GO:0005737
GO:0005794
GO:0005829
GO:0005975
GO:0006011
GO:0006012
GO:0008108
GO:0008270
GO:0016740
GO:0016779
GO:0033499
GO:0043226
GO:0046872
GO:0055086
GO:1901135
HMNXSV003012136
HMNXSV003020083
Hs.222102.0.A1_3p_at
Hs.222102.0.A1_3p_x_at
Hs.75641.1.S1_3p_at
ILMN_1657475
ILMN_1697760
ILMN_1706005
M60091_at
PH_hs_0004355
TC09002896.hg
g4557614_3p_at
Participates
as a member of
Other forms of this molecule
GALT K285N [cytosol]
GALT S135L [cytosol]
GALT [cytosol]
Modified Residues
Name
L-glutamine 188 replaced with L-arginine
Coordinate
188
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name Identifier Synonyms
galactosemia DOID:9870 Galactose intolerance, Galactosaemia
Cross References
ENSEMBL
OpenTargets
GeneCards
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (9)
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