PGM1

GENERAL INFORMATION

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Gene name

PGM1

Gene description

Phosphoglucomutase 1

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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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

Protein localization

Distinct cytoplasmic and nuclear expression in hepatocytes. Weaker cytoplasmic expression in several other tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation. Caution, targets protein from more than one gene.

Data reliability

Supportive based on 4 antibodies.
HPA024190 , HPA024637 , HPA046329 , CAB004666
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



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

PGM1

Synonyms

Description

Phosphoglucomutase 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

Chromosome

1

Cytoband

p31.3

Chromosome location (bp)

63593276 - 63660245

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000079739 (version 78.38)

Entrez gene

5236

UniProt

P36871 (UniProt - Evidence at protein level)

neXtProt

NX_P36871

Antibodypedia

PGM1 antibodies


PROTEIN BROWSER

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ENST00000371083
 
ENST00000371084
 
ENST00000540265
 
 
 
 


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)

PGM1-001 ENSP00000360125
ENST00000371084
P36871
Show all »
Show » Show » 562 61.4 No 0
PGM1-002 ENSP00000360124
ENST00000371083
P36871
Show all »
Show » Show » 580 63.8 No 0
PGM1-201 ENSP00000443449
ENST00000540265
P36871
Show all »
Show » Show » 365 40.3 No 0