POMGNT1 R63* [Golgi membrane]

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):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
2410527
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
45266_at
55624
7915801
A_23_P96812
A_33_P3284197
A_33_P3384543
GE87312
GO:0000139
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005794
GO:0006464
GO:0006486
GO:0006493
GO:0008150
GO:0008375
GO:0009058
GO:0016020
GO:0016021
GO:0016266
GO:0016740
GO:0016757
GO:0030145
GO:0030173
GO:0043167
GO:0043226
GO:0046872
GO:0047223
Hs.306846.0.A1_3p_s_at
ILMN_1693664
PH_hs_0025386
TC01002617.hg
TC01005448.hg
g8923252_3p_s_at
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
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
OpenTargets
GeneCards
HPA
Ensembl
PRO
Orphanet
HMDB Protein
PDB
Interactors (7)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8TBB1 LNX1  1 0.666 4
 UniProt:Q9Y2B1 RXLT1      0.666 4
 UniProt:Q9Y282 ERGI3      0.556 3
 UniProt:Q5JRM2 CX066      0.556 3
 UniProt:P04233-2 CD74      0.556 3
 UniProt:Q8N5K1 CISD2      0.556 3
 UniProt:Q96Q45-2 TMEM237      0.556 3
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