GALNT3 R162* [Golgi membrane]

Stable Identifier
R-HSA-6785543
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Polypeptide N-acetylgalactosaminyltransferase 3, GALT3_HUMAN
Icon
GALNT3 R162* [Golgi membrane] icon
GALNT3 R162* [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
HGNC:4125 GALNT3
KEGG:hsa:2591 GALNT3
Monarch:2591 GALNT3
NCBI Gene:2591 GALNT3
OMIM:601756 GALNT3
UCSC:Q14435 GALNT3
Reference Transcript
Other Identifiers
11721353_at
11721354_at
11760826_at
16904551
16904573
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
2585154
2585156
2585157
2585158
2585160
2585170
2585171
2585172
2585182
2585183
2585184
2585185
2585186
2585187
2585188
2585189
2585205
2585207
2585209
2585211
2585213
2585215
2585221
2591
36483_at
36484_at
8056408
A_23_P209459
A_24_P114249
GE61786
GO:0000139
GO:0003824
GO:0004653
GO:0005509
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:0030145
GO:0030246
GO:0032580
GO:0036211
GO:0043226
GO:0046872
GO:0048471
GO:0070062
GO:0140096
HMNXSV003005023
HMNXSV003012231
HMNXSV003036870
Hs.278611.0.S1_3p_a_at
ILMN_1671039
PH_hs_0014292
PH_hs_0032386
TC02002492.hg
X92689_at
p9388
Participates
as a member of
Other forms of this molecule
GALNT3 C574G [Golgi membrane]
GALNT3 Q592* [Golgi membrane]
GALNT3 T272K [Golgi membrane]
GALNT3 [Golgi membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 162
Coordinate
162
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
hyperphosphatemia DOID:0050459
Cross References
RefSeq
ENSEMBL
OpenTargets
GeneCards
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q96DX4 RSPRY      0.527 2
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