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GALNT12 Y396C [Golgi membrane]
Stable Identifier
R-HSA-5138168
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Polypeptide N-acetylgalactosaminyltransferase 12, GLT12_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with O-glycosylation of proteins (Homo sapiens)
Defective GALNT12 causes CRCS1 (Homo sapiens)
Defective GALNT12 does not transfer GalNAc to mucins (Homo sapiens)
GALNT12 mutants [Golgi membrane] (Homo sapiens)
GALNT12 Y396C [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8IXK2 GALNT12
Gene Names
GALNT12
Chain
chain:1-581
Reference Genes
BioGPS Gene:79695 GALNT12
COSMIC (genes):GALNT12 GALNT12
CTD Gene:79695 GALNT12
dbSNP Gene:79695 GALNT12
ENSEMBL:ENSG00000119514 GALNT12
ENSEMBL_homo_sapiens_GENE:ENSG00000119514.7 GALNT12
HGNC:19877 GALNT12
KEGG Gene (Homo sapiens):79695 GALNT12
Monarch:79695 GALNT12
NCBI Gene:79695 GALNT12
OMIM:610290 GALNT12
UCSC:Q8IXK2 GALNT12
Reference Transcript
RefSeq:XM_006717287.1 GALNT12
RefSeq:NM_024642.4 GALNT12
Other Identifiers
11724720_a_at
11724721_a_at
17087413
218885_PM_s_at
218885_s_at
222773_PM_s_at
222773_s_at
3181601
3181602
3181603
3181608
3181611
3181614
3181617
3181619
3181620
3181622
3181623
3181624
3181628
3181629
3181630
45632_at
74500_at
79695
8156770
A_14_P117283
A_23_P415652
GE62053
GE890281
GO:0000139
GO:0003824
GO:0004653
GO:0005794
GO:0006486
GO:0006493
GO:0016020
GO:0016266
GO:0016740
GO:0016757
GO:0030246
GO:0036211
GO:0043226
GO:0046872
GO:0140096
GO:1901135
HMNXSV003041693
Hs.47099.0.S1_3p_a_at
ILMN_1735157
PH_hs_0003348
TC09000498.hg
g13375880_3p_a_at
Participates
as a member of
GALNT12 mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
GALNT12 Y395* [Golgi membrane]
GALNT12 M1I [Golgi membrane]
GALNT12 D303N [Golgi membrane]
GALNT12 T491M [Golgi membrane]
GALNT12 [Golgi membrane]
Modified Residues
Name
L-tyrosine 396 replaced with L-cysteine
Coordinate
396
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
colorectal cancer
DOID:9256
Cross References
RefSeq
XP_006717350.1
,
NP_078918.3
OpenTargets
ENSG00000119514
GeneCards
Q8IXK2
HPA
ENSG00000119514-GALNT12
Ensembl
ENSG00000119514
,
ENST00000375011
,
ENSP00000364150
PRO
Q8IXK2
Pharos - Targets
Q8IXK2
HMDB Protein
HMDBP01007
PDB
6PXU
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P02790 HPX
2
HPX [endocytic vesicle lumen]
(R-HSA-2230987)
HPX [extracellular region]
(R-HSA-2168860)
0.641
3
UniProt:P18433 PTPRA
1
PTPRA [plasma membrane]
(R-HSA-388755)
0.527
3
UniProt:Q9H2A9 CHST8
1
CHST8 [Golgi membrane]
(R-HSA-6786024)
0.527
3
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