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
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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
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
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
3192219
46723_at
59713_at
8158866
A_23_P146354
GE58437
GO:0000030
GO:0001669
GO:0003674
GO:0004169
GO:0005575
GO:0005622
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
ILMN_2305721
PH_hs_0023051
TC09000752.hg
g6005839_3p_at
Participant Of
hasMember
Other forms of this molecule
POMT1 Q303* [endoplasmic reticulum membrane]
POMT1 W705Lfs*26 [endoplasmic reticulum membrane]
POMT1 [endoplasmic reticulum membrane]
POMT1 D723Efs*8 [endoplasmic reticulum membrane]
POMT1 G76R [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
HPA
Ensembl
PRO
Orphanet
HMDB Protein
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