GALNT3 Q592* [Golgi membrane]

Stable Identifier
R-HSA-6785551
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Polypeptide N-acetylgalactosaminyltransferase 3, GALT3_HUMAN
Icon
GALNT3 Q592* [Golgi membrane] icon
GALNT3 Q592* [Golgi membrane] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:Q14435 GALNT3
Gene Names
GALNT3
Chain
chain:1-633
Reference Genes
BioGPS Gene:2591 GALNT3
COSMIC (genes):GALNT3 GALNT3
CTD Gene:2591 GALNT3
dbSNP Gene:2591 GALNT3
ENSEMBL:ENSG00000115339 GALNT3
ENSEMBL_homo_sapiens_GENE:ENSG00000115339.14 GALNT3
HGNC:4125 GALNT3
KEGG Gene (Homo sapiens):2591 GALNT3
Monarch:2591 GALNT3
NCBI Gene:2591 GALNT3
OMIM:601756 GALNT3
UCSC:Q14435 GALNT3
Reference Transcript
Other Identifiers
11721353_at
11721354_at
16904551
203397_PM_s_at
203397_s_at
203398_PM_s_at
203398_s_at
2585139
2585140
2585141
2585142
2585143
2585144
2585146
2585147
2585148
2585149
2585150
2585151
2585157
2585158
2585172
2585183
2585184
2585185
2585186
2585187
2585205
2585207
2585209
2591
36483_at
36484_at
8056408
A_23_P209459
A_24_P114249
GE61786
GO:0000139
GO:0003824
GO:0004653
GO:0005509
GO:0005576
GO:0005615
GO:0005794
GO:0005975
GO:0006486
GO:0006493
GO:0007283
GO:0008543
GO:0016020
GO:0016266
GO:0016740
GO:0016757
GO:0018242
GO:0018243
GO:0022414
GO:0023052
GO:0030145
GO:0030246
GO:0032580
GO:0036211
GO:0043226
GO:0046872
GO:0048471
GO:0070062
GO:0140096
GO:1901135
HMNXSV003012231
Hs.278611.0.S1_3p_a_at
ILMN_1671039
PH_hs_0014292
TC02002492.hg
X92689_at
Participates
as a member of
Other forms of this molecule
GALNT3 C574G [Golgi membrane]
GALNT3 T272K [Golgi membrane]
GALNT3 R162* [Golgi membrane]
GALNT3 [Golgi membrane]
Modified Residues
Name
Nonsense mutation at L-glutamine 592
Coordinate
592
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
hyperphosphatemia DOID:0050459
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
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