POMGNT1 R605Vfs*29

Stable Identifier
R-HSA-5617081
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, PMGT1_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
POMGNT1, MGAT1.2, UNQ746/PRO1475
Chain
chain:1-660
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
5XFC
7915801
A_23_P96812
A_33_P3284197
A_33_P3384543
AAF71270
AAH01471
AAQ88955
AB057356
AF250859
AK000284
AK022727
AK056186
AL672043
AY358592
BAA91053
BAB14207
BAB71960
BC001471
CCDS531
CCDS57995
CH471059
EAX06932
EAX06933
EAX06935
ENSG00000085998
ENSP00000361052
ENSP00000361060
ENST00000371984
ENST00000371992
EntrezGene:55624
g8923252_3p_s_at
GE87312
GO:0000139
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005794
GO:0005975
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
HGNC:19139
HPA044518
Hs.306846.0.A1_3p_s_at
ILMN_1693664
IPR004139
IPR029044
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
Other forms of this molecule
Modified Residues
Name
Replacement of residues 605 to 632 by VATIGACGDCFGRRTTSWWWGSRLPPTQ
Disease
Name Identifier Synonyms
muscular dystrophy-dystroglycanopathy 0050588
Cross References
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein
Interactors (6)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q8TBB1 LNX1  1 0.556 3
 UniProt:Q9Y282 ERGI3      0.488 2
 UniProt:Q5JRM2 CX066      0.488 2
 UniProt:P04233-2 CD74      0.488 2
 UniProt:Q96Q45-2 TMEM237      0.488 2
 UniProt:Q9Y2B1 RXLT1      0.488 2