POMT1

GENERAL INFORMATION

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Gene name

POMT1

Gene description

Protein-O-mannosyltransferase 1

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

11
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

q34.13

Chromosome location (bp)

131502902 - 131523806

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000130714 (version 78.38)

Entrez gene

10585

UniProt

Q9Y6A1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y6A1

Antibodypedia

POMT1 antibodies


PROTEIN BROWSER

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 « 
 
ENST00000341012
 
ENST00000372220
 
ENST00000372228
 
ENST00000402686
 
ENST00000404875
 
ENST00000415075
 
ENST00000418774
 
ENST00000423007
 
ENST00000430619
 
ENST00000441334
 
ENST00000448212
 
 » 
 
 
 


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 ENSP00000384531
ENST00000404875
Q9Y6A1
Show all »
Show » Show » 608 69.5 No 9
POMT1-202 ENSP00000404119
ENST00000423007
Q9Y6A1
Show all »
Show » Show » 725 82.6 No >9