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POMGNT1 R63*

Stable Identifier
R-HSA-5617033
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, PMGT1_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q8WZA1 POMGNT1
Gene Names
POMGNT1, MGAT1.2, UNQ746/PRO1475
Chain
chain:1-660
Reference Genes
BioGPS Gene:55624 POMGNT1
COSMIC (genes):POMGNT1 POMGNT1
CTD Gene:55624 POMGNT1
dbSNP Gene:55624 POMGNT1
ENSEMBL:ENSG00000085998 POMGNT1
HGNC:19139 POMGNT1
KEGG Gene (Homo sapiens):hsa:55624 POMGNT1
Monarch:55624 POMGNT1
NCBI Gene:55624 POMGNT1
OMIM:606822 POMGNT1
UCSC:Q8WZA1 POMGNT1
Reference Transcript
Other Identifiers
0001190026
11716959_s_at
11745366_x_at
11746853_x_at
11756906_x_at
16686574
217944_3p_at
217944_at
233638_3p_s_at
233638_s_at
2410528
2410529
2410530
2410531
2410532
2410533
2410535
2410537
2410539
2410541
2410545
2410547
2410548
2410549
2410550
2410551
2410553
2410555
2410556
2410557
2410558
2410559
2410560
2410561
2410562
2410564
2410565
2410567
2410568
2410569
44518
45266_at
55624
5GGF
5GGG
5GGI
5GGJ
5GGK
5GGL
5GGN
5GGP
7915801
A_23_P96812
A_33_P3284197
A_33_P3384543
CCDS531
CCDS57995
ENSG00000085998
ENSP00000361052
ENSP00000361060
ENST00000371984
ENST00000371992
EntrezGene:55624
g8923252_3p_s_at
GE87312
GO:0000139
GO:0005515
GO:0005794
GO:0006486
GO:0006493
GO:0008375
GO:0016020
GO:0016021
GO:0016740
GO:0016757
GO:0047223
HGNC:19139
HPA044518
Hs.306846.0.A1_3p_s_at
Hs.525134
ILMN_1693664
MIM:253280
MIM:606822
MIM:613151
MIM:613157
MIM:617123
NM_001243766
NM_001290129
NM_001290130
NM_017739
NP_001230695
NP_001277058
NP_001277059
NP_060209
PF03071
PF15711
PH_hs_0025386
POMGNT1
POMGNT1-201
POMGNT1-202
Q68CV6
TC01002617.hg
TC01005448.hg
uc001cpe.4
uc001cpg.4
UPI000013FEED
UPI0000458AF4
XM_005271010
XM_006710755
XM_006710756
XM_011541760
XM_017001690
XP_005271067
XP_006710818
XP_006710819
XP_011540062
XP_016857179
Participant Of
hasMember
Other forms of this molecule
POMGNT1 P493R [Golgi membrane]
POMGNT1 W475* [Golgi membrane]
POMGNT1 [Golgi membrane]
POMGNT1 S550N [Golgi membrane]
POMGNT1 R605Vfs*29 [Golgi membrane]
Modified Residues
Name
L-arginine 63 replaced with unknown
Coordinate
63
PsiMod HEY
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
muscular dystrophy-dystroglycanopathy 0050588
Cross References
RefSeq
Brenda
GeneCards
DOCK Blaster
PRO
Orphanet
HMDB Protein
PDB
Interactors (3)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8TBB1 LNX1  1 0.556 3
 UniProt:P04233-2 CD74      0.488 2
 UniProt:Q9Y2B1 TMEM5      0.488 2