POMT1

GENE INFORMATION

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Gene name

POMT1 (HGNC Symbol)

Synonyms

LGMD2K

Description

protein-O-mannosyltransferase 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

Chromosome

9 (Chromosome progress)

Cytoband

q34.13

Chromosome location (bp)

134378289 - 134399193

Ensembl

ENSG00000130714 (version 73.37)

Entrez gene

10585

UniProt

Q9Y6A1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y6A1

Antibodypedia

POMT1 antibodies
 

PROTEIN VIEW

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 « 
 
POMT1-001
 
POMT1-002
 
POMT1-003
 
POMT1-005
 
POMT1-006
 
POMT1-007
 
POMT1-008
 
POMT1-009
 
POMT1-012
 
POMT1-201
 
POMT1-202
 
POMT1-203
 
POMT1-204
 
POMT1-205
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

POMT1-001 ENSP00000361302
ENST00000372228
Q9Y6A1
Show all »
Show » Show » 747 84.9 No >9
POMT1-002 ENSP00000343034
ENST00000341012
Q9Y6A1
Show all »
Show » Show » 671 76.3 No >9
POMT1-003 ENSP00000385797
ENST00000402686
Q9Y6A1
Show all »
Show » Show » 725 82.6 No >9
POMT1-005 ENSP00000395060
ENST00000441334
Q5JT03
Show all »
Show » Show » 297 33.3 No 6
POMT1-006 ENSP00000403736
ENST00000448212
Q5JT07
Show all »
Show » Show » 218 23.9 No 7
POMT1-007 ENSP00000405149
ENST00000415075
Q5JT04
Show all »
Show » Show » 156 17.6 No 2
POMT1-008 ENSP00000402083
ENST00000430619
Q5JT05
Show all »
Show » Show » 168 18.8 No 5
POMT1-009 ENSP00000390737
ENST00000418774
Q5JSZ6
Show all »
Show » Show » 142 15.8 No 2
POMT1-012 ENSP00000361294
ENST00000372220
Q5JT02
Show all »
Show » Show » 346 39.4 No 4
POMT1-201 ENSP00000346748
ENST00000354713
B4DTW4
Show all »
Show » Show » 695 79.4 No >9
POMT1-202 ENSP00000384531
ENST00000404875
Q9Y6A1
Show all »
Show » Show » 608 69.5 No 9
POMT1-203 ENSP00000403032
ENST00000419118
F5H3Z3
Show all »
Show » Show » 573 65.7 No 8
POMT1-204 ENSP00000404119
ENST00000423007
Q9Y6A1
Show all »
Show » Show » 725 82.6 No >9
POMT1-205 ENSP00000440895
ENST00000541219
B4DI80
Show all »
Show » Show » 465 53.2 No 5