GALT S135L [cytosol]

Stable Identifier
R-HSA-5610004
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Galactose-1-phosphate uridylyltransferase
Icon
GALT S135L [cytosol] icon
GALT S135L [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
ENSEMBL_homo_sapiens_GENE:ENSG00000213930.12 GALT
HGNC:4135 GALT
KEGG Gene (Homo sapiens):2592 GALT
Monarch:2592 GALT
NCBI Gene:2592 GALT
OMIM:606999 GALT
UCSC:P07902 GALT
Reference Transcript
Other Identifiers
11753952_a_at
203179_PM_at
203179_at
2592
3167515
3167516
3167517
3167522
3167525
3167526
3167528
3167531
3167533
3167534
3167537
3167540
3167542
3167546
3167547
3167548
3167549
3167554
36664_at
8154916
A_23_P502035
A_24_P12865
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:0019388
GO:0033499
GO:0043226
GO:0046872
GO:0055086
GO:1901135
HMNXSV003020083
ILMN_1657475
ILMN_1706005
M60091_at
g4557614_3p_at
Participates
as a member of
Other forms of this molecule
GALT Q188R [cytosol]
GALT K285N [cytosol]
GALT [cytosol]
Modified Residues
Name
L-serine 135 replaced with L-leucine
Coordinate
135
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name Identifier Synonyms
galactosemia DOID:9870 Galactose intolerance, Galactosaemia
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Interactors (9)
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