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Entry version 211 (29 Sep 2021)
Sequence version 3 (23 Jan 2007)
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Protein

Phosphoglucomutase-1

Gene

PGM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

This enzyme participates in both the breakdown and synthesis of glucose.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 PublicationNote: Binds 1 Mg2+ ion per subunit.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Glucose-1,6-bisphosphate enhances phosphorylation of the active site Ser-117, and thereby increases enzyme activity.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=80 µM for alpha-D-glucose 1-phosphate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei19SubstrateBy similarity1
Binding sitei23SubstrateBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei117Phosphoserine intermediate1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi117Magnesium; via phosphate groupBy similarity1
Binding sitei130SubstrateBy similarity1
Metal bindingi288Magnesium1 Publication1
Metal bindingi290Magnesium1 Publication1
Metal bindingi292Magnesium1 Publication1
Binding sitei357SubstrateBy similarity1
Binding sitei389SubstrateBy similarity1
Binding sitei515SubstrateBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase
Biological processCarbohydrate metabolism, Glucose metabolism
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS01335-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
5.4.2.2, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P36871

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3322077, Glycogen synthesis
R-HSA-5609974, Defective PGM1 causes PGM1-CDG (CDG1t)
R-HSA-6798695, Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P36871

SIGNOR Signaling Network Open Resource

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SIGNORi
P36871

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Phosphoglucomutase-1 (EC:5.4.2.22 Publications)
Short name:
PGM 1
Alternative name(s):
Glucose phosphomutase 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PGM1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:8905, PGM1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
171900, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P36871

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000079739

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Congenital disorder of glycosylation 1T (CDG1T)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07163519T → A in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1320810473Ensembl.1
Natural variantiVAR_07163638N → Y in CDG1T; reduces strongly solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs587777402EnsemblClinVar.1
Natural variantiVAR_07163741Q → R in CDG1T; reduces solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs1300651770EnsemblClinVar.1
Natural variantiVAR_07163862D → H in CDG1T; reduces solubility; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777403EnsemblClinVar.1
Natural variantiVAR_062280115T → A in CDG1T; reduces mildly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918371EnsemblClinVar.1
Natural variantiVAR_069219121G → R in CDG1T; there is 7% enzyme residual phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs398122912EnsemblClinVar.1
Natural variantiVAR_071639263D → G in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1465877146Ensembl.1
Natural variantiVAR_071640263D → Y in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777404EnsemblClinVar.1
Natural variantiVAR_071641291G → R in CDG1T; reduces strongly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs772768778Ensembl.1
Natural variantiVAR_071642330G → R in CDG1T; decreases mildly solubility. 2 PublicationsCorresponds to variant dbSNP:rs777164338Ensembl.1
Natural variantiVAR_071643377E → K in CDG1T; decreases strongly solubility. 2 Publications1
Natural variantiVAR_071644388E → K in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs1301021797Ensembl.1
Natural variantiVAR_071645516L → P in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777401EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease variant, Glycogen storage disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
5236

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PGM1

MalaCards human disease database

More...
MalaCardsi
PGM1
MIMi614921, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000079739

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
319646, PGM1-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33242

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P36871, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB02835, Alpha-D-Glucose 1,6-Bisphosphate
DB04397, Alpha-D-Glucose-1-Phosphate-6-Vanadate
DB06773, Human calcitonin

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PGM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
585670

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001477761 – 562Phosphoglucomutase-1Add BLAST562

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei16N6-acetyllysineCombined sources1
Modified residuei115PhosphothreonineBy similarity1
Modified residuei117PhosphoserineCombined sources1 Publication1
Modified residuei134PhosphoserineBy similarity1
Modified residuei185PhosphothreonineCombined sources1
Modified residuei201PhosphoserineCombined sources1
Modified residuei206PhosphoserineCombined sources1
Modified residuei213PhosphoserineBy similarity1
Modified residuei349N6-acetyllysineBy similarity1
Modified residuei353PhosphotyrosineBy similarity1
Modified residuei369PhosphoserineBy similarity1
Modified residuei378PhosphoserineCombined sources1
Modified residuei419N6-succinyllysineBy similarity1
Modified residuei467Phosphothreonine; by PAK11 Publication1
Modified residuei477PhosphoserineBy similarity1
Modified residuei485PhosphoserineBy similarity1
Modified residuei505PhosphoserineCombined sources1
Modified residuei507PhosphothreonineBy similarity1
Modified residuei509PhosphoserineCombined sources1
Modified residuei541PhosphoserineBy similarity1
Isoform 2 (identifier: P36871-2)
Modified residuei1N-acetylmethionineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-255
CPTAC-256
CPTAC-988

Encyclopedia of Proteome Dynamics

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EPDi
P36871

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P36871

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P36871

MaxQB - The MaxQuant DataBase

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MaxQBi
P36871

PeptideAtlas

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PeptideAtlasi
P36871

PRoteomics IDEntifications database

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PRIDEi
P36871

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
4816
55222 [P36871-1]
55223 [P36871-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
P36871-1 [P36871-1]

2D gel databases

REPRODUCTION-2DPAGE

More...
REPRODUCTION-2DPAGEi
P36871

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
P36871, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P36871

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
P36871

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P36871

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P36871

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000079739, Expressed in skeletal muscle tissue and 246 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P36871, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P36871, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000079739, Tissue enriched (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
111256, 79 interactors

Database of interacting proteins

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DIPi
DIP-60903N

Protein interaction database and analysis system

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IntActi
P36871, 34 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360124

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P36871, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1562
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P36871

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni117 – 118Substrate bindingBy similarity2
Regioni292 – 293Substrate bindingBy similarity2
Regioni376 – 378Substrate bindingBy similarity3

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the phosphohexose mutase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0625, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000155542

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_009330_0_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P36871

Identification of Orthologs from Complete Genome Data

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OMAi
DTRFMSE

Database of Orthologous Groups

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OrthoDBi
446752at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P36871

TreeFam database of animal gene trees

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TreeFami
TF300350

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005844, A-D-PHexomutase_a/b/a-I
IPR016055, A-D-PHexomutase_a/b/a-I/II/III
IPR005845, A-D-PHexomutase_a/b/a-II
IPR005846, A-D-PHexomutase_a/b/a-III
IPR005843, A-D-PHexomutase_C
IPR036900, A-D-PHexomutase_C_sf
IPR016066, A-D-PHexomutase_CS
IPR005841, Alpha-D-phosphohexomutase_SF

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02878, PGM_PMM_I, 1 hit
PF02879, PGM_PMM_II, 1 hit
PF02880, PGM_PMM_III, 1 hit
PF00408, PGM_PMM_IV, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00509, PGMPMM

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53738, SSF53738, 3 hits
SSF55957, SSF55957, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00710, PGM_PMM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P36871-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVKIVTVKTQ AYQDQKPGTS GLRKRVKVFQ SSANYAENFI QSIISTVEPA
60 70 80 90 100
QRQEATLVVG GDGRFYMKEA IQLIARIAAA NGIGRLVIGQ NGILSTPAVS
110 120 130 140 150
CIIRKIKAIG GIILTASHNP GGPNGDFGIK FNISNGGPAP EAITDKIFQI
160 170 180 190 200
SKTIEEYAVC PDLKVDLGVL GKQQFDLENK FKPFTVEIVD SVEAYATMLR
210 220 230 240 250
SIFDFSALKE LLSGPNRLKI RIDAMHGVVG PYVKKILCEE LGAPANSAVN
260 270 280 290 300
CVPLEDFGGH HPDPNLTYAA DLVETMKSGE HDFGAAFDGD GDRNMILGKH
310 320 330 340 350
GFFVNPSDSV AVIAANIFSI PYFQQTGVRG FARSMPTSGA LDRVASATKI
360 370 380 390 400
ALYETPTGWK FFGNLMDASK LSLCGEESFG TGSDHIREKD GLWAVLAWLS
410 420 430 440 450
ILATRKQSVE DILKDHWQKY GRNFFTRYDY EEVEAEGANK MMKDLEALMF
460 470 480 490 500
DRSFVGKQFS ANDKVYTVEK ADNFEYSDPV DGSISRNQGL RLIFTDGSRI
510 520 530 540 550
VFRLSGTGSA GATIRLYIDS YEKDVAKINQ DPQVMLAPLI SIALKVSQLQ
560
ERTGRTAPTV IT
Length:562
Mass (Da):61,449
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i61A26C19107D467A
GO
Isoform 2 (identifier: P36871-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: MVKIVTVKTQ...KEAIQLIARI → MSDFEEWISG...KSAIETIVQM

Show »
Length:580
Mass (Da):63,791
Checksum:iCE4F9CA4094B5139
GO
Isoform 3 (identifier: P36871-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-197: Missing.

Show »
Length:365
Mass (Da):40,283
Checksum:iE0696E6FD7170D62
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ITK7A0A3B3ITK7_HUMAN
Phosphoglucomutase-1
PGM1
584Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH90856 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti134S → C in AAH67763 (PubMed:15489334).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Many polymorphic variants of PGM1 exist. 8 different alleles are known: PGM1*1+, PGM1*1-, PGM1*2+, PGM1*2-, PGM1*3+, PGM1*3-, PGM1*7+ and PGM1*7-. The sequence of PGM1*1+ is shown here.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07163519T → A in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1320810473Ensembl.1
Natural variantiVAR_07163638N → Y in CDG1T; reduces strongly solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs587777402EnsemblClinVar.1
Natural variantiVAR_07163741Q → R in CDG1T; reduces solubility; increases aggregation. 2 PublicationsCorresponds to variant dbSNP:rs1300651770EnsemblClinVar.1
Natural variantiVAR_07163862D → H in CDG1T; reduces solubility; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777403EnsemblClinVar.1
Natural variantiVAR_00609068K → M in allele PGM1*7+, allele PGM1*7-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs200390982Ensembl.1
Natural variantiVAR_05049688I → V. Corresponds to variant dbSNP:rs855314EnsemblClinVar.1
Natural variantiVAR_062280115T → A in CDG1T; reduces mildly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs121918371EnsemblClinVar.1
Natural variantiVAR_069219121G → R in CDG1T; there is 7% enzyme residual phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs398122912EnsemblClinVar.1
Natural variantiVAR_006091221R → C in allele PGM1*2+, allele PGM1*2-, allele PGM1*3+ and allele PGM1*3-; phosphoglucomutase activity is similar to wild-type. 5 PublicationsCorresponds to variant dbSNP:rs1126728EnsemblClinVar.1
Natural variantiVAR_071639263D → G in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs1465877146Ensembl.1
Natural variantiVAR_071640263D → Y in CDG1T; reduces strongly phosphoglucomutase activity. 2 PublicationsCorresponds to variant dbSNP:rs587777404EnsemblClinVar.1
Natural variantiVAR_071641291G → R in CDG1T; reduces strongly phosphoglucomutase activity. 3 PublicationsCorresponds to variant dbSNP:rs772768778Ensembl.1
Natural variantiVAR_071642330G → R in CDG1T; decreases mildly solubility. 2 PublicationsCorresponds to variant dbSNP:rs777164338Ensembl.1
Natural variantiVAR_071643377E → K in CDG1T; decreases strongly solubility. 2 Publications1
Natural variantiVAR_071644388E → K in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs1301021797Ensembl.1
Natural variantiVAR_006092420Y → H in allele PGM1*1-, allele PGM1*2-, allele PGM1*3- and allele PGM1*7-; phosphoglucomutase activity is similar to wild-type. 6 PublicationsCorresponds to variant dbSNP:rs11208257EnsemblClinVar.1
Natural variantiVAR_034380501V → I. Corresponds to variant dbSNP:rs6676290EnsemblClinVar.1
Natural variantiVAR_071645516L → P in CDG1T; decreases strongly solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777401EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0452041 – 197Missing in isoform 3. 1 PublicationAdd BLAST197
Alternative sequenceiVSP_0046861 – 77MVKIV…LIARI → MSDFEEWISGTYRKMEEGPL PLLTFATAPYHDQKPGTSGL RKKTYYFEEKPCYLENFIQS IFFSIDLKDRQGSSLVVGGD GRYFNKSAIETIVQM in isoform 2. CuratedAdd BLAST77

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M83088 mRNA Translation: AAA60080.1
BT006961 mRNA Translation: AAP35607.1
AK298505 mRNA Translation: BAG60712.1
AK312254 mRNA Translation: BAG35186.1
AL109925 Genomic DNA No translation available.
BC001756 mRNA Translation: AAH01756.3
BC019920 mRNA Translation: AAH19920.1
BC067763 mRNA Translation: AAH67763.2
BC090856 mRNA Translation: AAH90856.1 Different initiation.
S67989 Genomic DNA Translation: AAB29177.2
S67998 Genomic DNA Translation: AAB29178.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53323.1 [P36871-2]
CCDS53324.1 [P36871-3]
CCDS625.1 [P36871-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A41801
S39397

NCBI Reference Sequences

More...
RefSeqi
NP_001166289.1, NM_001172818.1 [P36871-2]
NP_001166290.1, NM_001172819.1 [P36871-3]
NP_002624.2, NM_002633.2 [P36871-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371083; ENSP00000360124; ENSG00000079739 [P36871-2]
ENST00000371084; ENSP00000360125; ENSG00000079739 [P36871-1]
ENST00000540265; ENSP00000443449; ENSG00000079739 [P36871-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5236

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5236

UCSC genome browser

More...
UCSCi
uc001dbh.5, human [P36871-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M83088 mRNA Translation: AAA60080.1
BT006961 mRNA Translation: AAP35607.1
AK298505 mRNA Translation: BAG60712.1
AK312254 mRNA Translation: BAG35186.1
AL109925 Genomic DNA No translation available.
BC001756 mRNA Translation: AAH01756.3
BC019920 mRNA Translation: AAH19920.1
BC067763 mRNA Translation: AAH67763.2
BC090856 mRNA Translation: AAH90856.1 Different initiation.
S67989 Genomic DNA Translation: AAB29177.2
S67998 Genomic DNA Translation: AAB29178.1
CCDSiCCDS53323.1 [P36871-2]
CCDS53324.1 [P36871-3]
CCDS625.1 [P36871-1]
PIRiA41801
S39397
RefSeqiNP_001166289.1, NM_001172818.1 [P36871-2]
NP_001166290.1, NM_001172819.1 [P36871-3]
NP_002624.2, NM_002633.2 [P36871-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EPCX-ray1.85A/B1-562[»]
5F9CX-ray2.50A/B1-562[»]
5HSHX-ray2.65A/B1-562[»]
5JN5X-ray1.75A/B1-562[»]
5TR2X-ray2.50A/B1-562[»]
5VBIX-ray1.75A/B1-562[»]
5VECX-ray2.20A/B1-562[»]
5VG7X-ray1.95A/B1-562[»]
5VINX-ray2.60A/B1-562[»]
6SNOX-ray2.70A2-562[»]
6SNPX-ray2.75A2-562[»]
6SNQX-ray2.70A2-562[»]
6UIQX-ray2.30A/B1-562[»]
6UO6X-ray2.15A/B1-562[»]
SMRiP36871
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi111256, 79 interactors
DIPiDIP-60903N
IntActiP36871, 34 interactors
STRINGi9606.ENSP00000360124

Chemistry databases

DrugBankiDB02835, Alpha-D-Glucose 1,6-Bisphosphate
DB04397, Alpha-D-Glucose-1-Phosphate-6-Vanadate
DB06773, Human calcitonin

PTM databases

GlyGeniP36871, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP36871
MetOSiteiP36871
PhosphoSitePlusiP36871
SwissPalmiP36871

Genetic variation databases

BioMutaiPGM1
DMDMi585670

2D gel databases

REPRODUCTION-2DPAGEiP36871

Proteomic databases

CPTACiCPTAC-255
CPTAC-256
CPTAC-988
EPDiP36871
jPOSTiP36871
MassIVEiP36871
MaxQBiP36871
PeptideAtlasiP36871
PRIDEiP36871
ProteomicsDBi4816
55222 [P36871-1]
55223 [P36871-2]
TopDownProteomicsiP36871-1 [P36871-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
3314, 237 antibodies

The DNASU plasmid repository

More...
DNASUi
5236

Genome annotation databases

EnsembliENST00000371083; ENSP00000360124; ENSG00000079739 [P36871-2]
ENST00000371084; ENSP00000360125; ENSG00000079739 [P36871-1]
ENST00000540265; ENSP00000443449; ENSG00000079739 [P36871-3]
GeneIDi5236
KEGGihsa:5236
UCSCiuc001dbh.5, human [P36871-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5236
DisGeNETi5236

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PGM1
GeneReviewsiPGM1
HGNCiHGNC:8905, PGM1
HPAiENSG00000079739, Tissue enriched (skeletal)
MalaCardsiPGM1
MIMi171900, gene
614921, phenotype
neXtProtiNX_P36871
OpenTargetsiENSG00000079739
Orphaneti319646, PGM1-CDG
PharmGKBiPA33242
VEuPathDBiHostDB:ENSG00000079739

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0625, Eukaryota
GeneTreeiENSGT00940000155542
HOGENOMiCLU_009330_0_1_1
InParanoidiP36871
OMAiDTRFMSE
OrthoDBi446752at2759
PhylomeDBiP36871
TreeFamiTF300350

Enzyme and pathway databases

BioCyciMetaCyc:HS01335-MONOMER
BRENDAi5.4.2.2, 2681
PathwayCommonsiP36871
ReactomeiR-HSA-3322077, Glycogen synthesis
R-HSA-5609974, Defective PGM1 causes PGM1-CDG (CDG1t)
R-HSA-6798695, Neutrophil degranulation
SABIO-RKiP36871
SIGNORiP36871

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
5236, 5 hits in 1011 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PGM1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PGM1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5236
PharosiP36871, Tbio

Protein Ontology

More...
PROi
PR:P36871
RNActiP36871, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000079739, Expressed in skeletal muscle tissue and 246 other tissues
ExpressionAtlasiP36871, baseline and differential
GenevisibleiP36871, HS

Family and domain databases

InterProiView protein in InterPro
IPR005844, A-D-PHexomutase_a/b/a-I
IPR016055, A-D-PHexomutase_a/b/a-I/II/III
IPR005845, A-D-PHexomutase_a/b/a-II
IPR005846, A-D-PHexomutase_a/b/a-III
IPR005843, A-D-PHexomutase_C
IPR036900, A-D-PHexomutase_C_sf
IPR016066, A-D-PHexomutase_CS
IPR005841, Alpha-D-phosphohexomutase_SF
PfamiView protein in Pfam
PF02878, PGM_PMM_I, 1 hit
PF02879, PGM_PMM_II, 1 hit
PF02880, PGM_PMM_III, 1 hit
PF00408, PGM_PMM_IV, 1 hit
PRINTSiPR00509, PGMPMM
SUPFAMiSSF53738, SSF53738, 3 hits
SSF55957, SSF55957, 1 hit
PROSITEiView protein in PROSITE
PS00710, PGM_PMM, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPGM1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P36871
Secondary accession number(s): B2R5N9
, B4DPV0, Q16105, Q16106, Q5BKZ9, Q6NW22, Q86U74, Q96J40, Q9NTY4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: January 23, 2007
Last modified: September 29, 2021
This is version 211 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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