POMT1 S727Afs*3 [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-5615603
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Protein O-mannosyl-transferase 1 ecNumber2.4.1.109/ecNumber, POMT1_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9Y6A1 POMT1
Gene Names
POMT1
Chain
chain:1-747
Reference Genes
BioGPS Gene:10585 POMT1
COSMIC (genes):POMT1 POMT1
CTD Gene:10585 POMT1
dbSNP Gene:10585 POMT1
ENSEMBL:ENSG00000130714 POMT1
ENSEMBL_homo_sapiens_GENE:ENSG00000130714 POMT1
HGNC:9202 POMT1
KEGG Gene (Homo sapiens):10585 POMT1
Monarch:10585 POMT1
NCBI Gene:10585 POMT1
OMIM:607423 POMT1
UCSC:Q9Y6A1 POMT1
Reference Transcript
Other Identifiers
0002480647
00514+2.4.1.109
00515+2.4.1.109
10585
11719913_s_at
11741111_a_at
11741112_x_at
11748935_a_at
11748936_a_at
11749134_x_at
17090568
218476_at
3192174
3192175
3192176
3192178
3192179
3192180
3192182
3192184
3192186
3192188
3192189
3192190
3192191
3192193
3192194
3192195
3192197
3192199
3192200
3192201
3192203
3192205
3192206
3192207
3192210
3192211
3192212
3192215
3192216
3192217
46723_at
59713_at
65252
8158866
A0A140VKE0
A_23_P146354
AAD41245
AAD41246
AAH22877
AAH65268
AEE61277
BAA91135
BAA91190
BAC11269
BAG52022
BAG58462
CCDS43894
CCDS43895
CCDS48045
CCDS6943
EAW87978
ENSG00000130714
ENSP00000343034
ENSP00000361302
ENSP00000384531
ENSP00000385797
ENSP00000404119
ENST00000341012
ENST00000372228
ENST00000402686
ENST00000404875
ENST00000423007
EntrezGene:10585
g6005839_3p_at
GE58437
GO:0000030
GO:0001669
GO:0003674
GO:0004169
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0005975
GO:0006464
GO:0006486
GO:0006493
GO:0007275
GO:0008150
GO:0009058
GO:0016020
GO:0016021
GO:0016529
GO:0016740
GO:0016757
GO:0030198
GO:0031410
GO:0035269
GO:0043167
GO:0043226
GO:0046872
GO:0048856
GO:0097502
GO:1904100
HGNC:9202
HPA065252
ILMN_2305721
IPR003342
IPR016093
IPR027005
IPR032421
IPR036300
MIM:236670
MIM:607423
MIM:609308
MIM:613155
NM_001077365
NM_001077366
NM_001136113
NM_001136114
NM_001353197
NM_007171
NP_001070833
NP_001070834
NP_001129585
NP_001129586
NP_001340123
NP_001340124
NP_001340126
NP_009102
PF02366
PF02815
PF16192
PH_hs_0023051
POMT1
POMT1-201
POMT1-203
POMT1-204
POMT1-205
POMT1-208
Q5JSZ6
Q5JT02
Q5JT03
Q5JT04
Q5JT05
Q5JT07
SM00472
TC09000752.hg
uc004cau.4
uc004cav.4
uc004caw.4
uc004cax.3
uc011mck.2
UPI000013CDA7
UPI000015D95F
UPI00001AAC51
UPI0001824646
XM_005272156
XM_005272158
XM_005272159
XM_006716932
XM_011518140
XM_011518141
XM_011518142
XM_011518143
XM_011518145
XM_017014203
XP_005272213
XP_006716995
XP_011516442
XP_011516443
XP_011516444
XP_011516445
XP_011516447
XR_001746160
XR_001746161
XR_001746162
XR_001746163
XR_001746164
XR_001746165
XR_001746166
XR_001746167
XR_929703
Participant Of
hasMember
Other forms of this molecule
POMT1 Q303* [endoplasmic reticulum membrane]
POMT1 W705Lfs*26 [endoplasmic reticulum membrane]
POMT1 G76R [endoplasmic reticulum membrane]
POMT1 D723Efs*8 [endoplasmic reticulum membrane]
POMT1 [endoplasmic reticulum membrane]
Modified Residues
Name
Replacement of residues 727 to 728 by AT
Disease
Name Identifier Synonyms
muscular dystrophy-dystroglycanopathy 0050588
Cross References
RefSeq
OpenTargets
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
HMDB Protein