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POMT1 Q303* [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5615596
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Protein O-mannosyl-transferase 1 ecNumber2.4.1.109/ecNumber, POMT1_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with O-glycosylation of proteins (Homo sapiens)
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 (Homo sapiens)
Defective POMT1 does not transfer Man from Dol-P-Man to DAG1 (Homo sapiens)
POMT1 mutants:POMT2 [endoplasmic reticulum membrane] (Homo sapiens)
POMT1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
POMT1 Q303* [endoplasmic reticulum membrane] (Homo sapiens)
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
Monarch:10585 POMT1
NCBI Gene:10585 POMT1
OMIM:607423 POMT1
UCSC:Q9Y6A1 POMT1
Reference Transcript
RefSeq:NM_001136114.1 POMT1
RefSeq:NM_007171.3 POMT1
RefSeq:NM_001136113.1 POMT1
RefSeq:NM_001077365.1 POMT1
RefSeq:NM_001077366.1 POMT1
RefSeq:XM_005272156.1 POMT1
Other Identifiers
10585
11719913_s_at
11741111_a_at
11741112_x_at
11748935_a_at
11748936_a_at
11749134_x_at
11762912_a_at
17090568
218476_PM_at
218476_at
3192174
3192175
3192176
3192177
3192178
3192179
3192180
3192181
3192182
3192183
3192184
3192185
3192186
3192187
3192188
3192189
3192190
3192191
3192192
3192193
3192194
3192195
3192196
3192197
3192198
3192199
3192200
3192201
3192202
3192203
3192204
3192205
3192206
3192207
3192208
3192209
3192210
3192211
3192212
3192213
3192214
3192215
3192216
3192217
3192219
46723_at
59713_at
8158866
86788_r_at
92025_at
A_14_P106183
A_14_P114470
A_23_P146354
GE58437
GO:0000030
GO:0001669
GO:0003824
GO:0004169
GO:0005515
GO:0005783
GO:0005789
GO:0006486
GO:0006493
GO:0016020
GO:0016529
GO:0016740
GO:0016757
GO:0030198
GO:0031410
GO:0035269
GO:0043226
GO:0046872
GO:0140096
GO:1904100
HMNXSV003058165
ILMN_2305721
PH_hs_0023051
TC09000752.hg
g6005839_3p_at
Participates
as a member of
POMT1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
POMT1 [endoplasmic reticulum membrane]
POMT1 D723Efs*8 [endoplasmic reticulum membrane]
POMT1 G76R [endoplasmic reticulum membrane]
POMT1 S727Afs*3 [endoplasmic reticulum membrane]
POMT1 W705Lfs*26 [endoplasmic reticulum membrane]
Modified Residues
Name
Nonsense mutation at L-glutamine 303
Coordinate
303
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name
Identifier
Synonyms
muscular dystrophy-dystroglycanopathy
DOID:0050588
Cross References
OpenTargets
ENSG00000130714
ENSEMBL
ENSP00000343034
,
ENSP00000503281
,
ENST00000677216
,
ENST00000679189
,
ENST00000679023
,
ENST00000676640
,
ENSP00000385797
,
ENSP00000503718
,
ENSP00000361302
,
ENST00000341012
,
ENST00000402686
,
ENSP00000503772
,
ENSP00000503356
,
ENST00000372228
HPA
ENSG00000130714-POMT1
PRO
Q9Y6A1
Pharos - Targets
Q9Y6A1
Orphanet
POMT1
GlyGen
Q9Y6A1
HMDB Protein
HMDBP00946
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