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Entry version 197 (13 Nov 2019)
Sequence version 1 (01 May 1999)
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Protein

Phosphoacetylglucosamine mutase

Gene

PGM3

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

Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation.3 Publications

<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+By similarityNote: Binds 1 Mg2+ ion per subunit.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: UDP-N-acetyl-alpha-D-glucosamine biosynthesis

This protein is involved in step 2 of the subpathway that synthesizes N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I).3 Publications
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Glucosamine 6-phosphate N-acetyltransferase (GNPNAT1), Glucosamine 6-phosphate N-acetyltransferase (GNPNAT1), Glucosamine 6-phosphate N-acetyltransferase (GNPNAT1), Glucosamine 6-phosphate N-acetyltransferase (GNPNAT1)
  2. Phosphoacetylglucosamine mutase (PGM3), Phosphoacetylglucosamine mutase (PGM3), Phosphoacetylglucosamine mutase, Phosphoacetylglucosamine mutase (PGM3), Phosphoacetylglucosamine mutase (PGM3)
This subpathway is part of the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis, which is itself part of Nucleotide-sugar biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I), the pathway UDP-N-acetyl-alpha-D-glucosamine biosynthesis and in Nucleotide-sugar biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 sitei64Phosphoserine 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 bindingi64Magnesium; via phosphate groupBy similarity1
Metal bindingi276MagnesiumBy similarity1
Metal bindingi278MagnesiumBy similarity1
Metal bindingi280MagnesiumBy similarity1
<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 sitei505SubstrateBy 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
LigandMagnesium, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS00347-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
5.4.2.3 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
O95394

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00113;UER00530

<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:
Phosphoacetylglucosamine mutaseCurated (EC:5.4.2.33 Publications)
Short name:
PAGM
Alternative name(s):
Acetylglucosamine phosphomutaseCurated
N-acetylglucosamine-phosphate mutase1 Publication
Phosphoglucomutase-3Imported
Short name:
PGM 3
<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:PGM3Imported
Synonyms:AGM11 Publication
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8907 PGM3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
172100 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95394

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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

Immunodeficiency 23 (IMD23)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity.
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_07135983L → S in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608260EnsemblClinVar.1
Natural variantiVAR_071360239D → H in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs869312886EnsemblClinVar.1
Natural variantiVAR_071361246N → S in IMD23; loss of phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777562EnsemblClinVar.1
Natural variantiVAR_071362297D → E in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777415EnsemblClinVar.1
Natural variantiVAR_071363340Missing in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 Publication1
Natural variantiVAR_071364451Q → R in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777565EnsemblClinVar.1
Natural variantiVAR_071365501E → Q in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777413EnsemblClinVar.1
Natural variantiVAR_071366502D → Y in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608261EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi64S → A: Loss of activity. 1 Publication1
Mutagenesisi65H → A: Loss of activity. 1 Publication1
Mutagenesisi278D → A or E: Loss of activity. 1 Publication1
Mutagenesisi281R → A or K: Loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
5238

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

More...
GeneReviewsi
PGM3

MalaCards human disease database

More...
MalaCardsi
PGM3
MIMi615816 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000013375

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

More...
Orphaneti
443811 PGM3-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33244

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
O95394

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PGM3

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001480131 – 542Phosphoacetylglucosamine mutaseAdd BLAST542

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 residuei62PhosphothreonineCombined sources1
Modified residuei64PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95394

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O95394

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O95394

MaxQB - The MaxQuant DataBase

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MaxQBi
O95394

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95394

PeptideAtlas

More...
PeptideAtlasi
O95394

PRoteomics IDEntifications database

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PRIDEi
O95394

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
14425
20051
50845 [O95394-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95394

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

More...
PhosphoSitePlusi
O95394

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000013375 Expressed in 210 organ(s), highest expression level in body of pancreas

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95394 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95394 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004998
HPA029759
HPA029760

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111257, 21 interactors

Protein interaction database and analysis system

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IntActi
O95394, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000425809

<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

3D structure databases

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

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SMRi
O95394

Database of comparative protein structure models

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ModBasei
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>Regioni370 – 372Substrate bindingBy similarity3
Regioni496 – 500Substrate bindingBy similarity5

<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

More...
eggNOGi
KOG2537 Eukaryota
COG1109 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000000509

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000210027

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95394

KEGG Orthology (KO)

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KOi
K01836

Identification of Orthologs from Complete Genome Data

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OMAi
PGDRCCS

Database of Orthologous Groups

More...
OrthoDBi
345441at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95394

TreeFam database of animal gene trees

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TreeFami
TF105670

Family and domain databases

Conserved Domains Database

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CDDi
cd03086 PGM3, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR005844 A-D-PHexomutase_a/b/a-I
IPR016055 A-D-PHexomutase_a/b/a-I/II/III
IPR005843 A-D-PHexomutase_C
IPR036900 A-D-PHexomutase_C_sf
IPR016066 A-D-PHexomutase_CS
IPR016657 PAGM

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02878 PGM_PMM_I, 2 hits
PF00408 PGM_PMM_IV, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF016408 PAGM, 1 hit

Superfamily database of structural and functional annotation

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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 16 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95394-1) [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
MDLGAITKYS ALHAKPNGLI LQYGTAGFRT KAEHLDHVMF RMGLLAVLRS
60 70 80 90 100
KQTKSTIGVM VTASHNPEED NGVKLVDPLG EMLAPSWEEH ATCLANAEEQ
110 120 130 140 150
DMQRVLIDIS EKEAVNLQQD AFVVIGRDTR PSSEKLSQSV IDGVTVLGGQ
160 170 180 190 200
FHDYGLLTTP QLHYMVYCRN TGGRYGKATI EGYYQKLSKA FVELTKQASC
210 220 230 240 250
SGDEYRSLKV DCANGIGALK LREMEHYFSQ GLSVQLFNDG SKGKLNHLCG
260 270 280 290 300
ADFVKSHQKP PQGMEIKSNE RCCSFDGDAD RIVYYYHDAD GHFHLIDGDK
310 320 330 340 350
IATLISSFLK ELLVEIGESL NIGVVQTAYA NGSSTRYLEE VMKVPVYCTK
360 370 380 390 400
TGVKHLHHKA QEFDIGVYFE ANGHGTALFS TAVEMKIKQS AEQLEDKKRK
410 420 430 440 450
AAKMLENIID LFNQAAGDAI SDMLVIEAIL ALKGLTVQQW DALYTDLPNR
460 470 480 490 500
QLKVQVADRR VISTTDAERQ AVTPPGLQEA INDLVKKYKL SRAFVRPSGT
510 520 530 540
EDVVRVYAEA DSQESADHLA HEVSLAVFQL AGGIGERPQP GF
Length:542
Mass (Da):59,852
Last modified:May 1, 1999 - v1
<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:i6A4FBCD99A2154A9
GO
Isoform 2 (identifier: O95394-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     542-542: F → YKAAETTHNINNAFGPGTANEHTVP

Note: Gene prediction based on EST data.
Show »
Length:566
Mass (Da):62,342
Checksum:i81691708BD389ECF
GO
Isoform 3 (identifier: O95394-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGGEWGQSAICPESAQEWTYQVGQHLVDM

Note: No experimental confirmation available.
Show »
Length:570
Mass (Da):62,941
Checksum:i3F59B307C746CF8D
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 are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y987H0Y987_HUMAN
Phosphoacetylglucosamine mutase
PGM3
566Annotation score:

Annotation score:3 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>
A0A494C0G1A0A494C0G1_HUMAN
Phosphoacetylglucosamine mutase
PGM3
501Annotation score:

Annotation score:3 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>
A0A494C1E2A0A494C1E2_HUMAN
Phosphoacetylglucosamine mutase
PGM3
461Annotation score:

Annotation score:3 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>
J3KN95J3KN95_HUMAN
Phosphoacetylglucosamine mutase
PGM3 hCG_401113
441Annotation score:

Annotation score:2 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>
A0A494C1Q4A0A494C1Q4_HUMAN
Phosphoacetylglucosamine mutase
PGM3
427Annotation 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>
D6RC77D6RC77_HUMAN
Phosphoacetylglucosamine mutase
PGM3
114Annotation 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>
D6RCD1D6RCD1_HUMAN
Phosphoacetylglucosamine mutase
PGM3
71Annotation 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>
D6RCQ8D6RCQ8_HUMAN
Phosphoacetylglucosamine mutase
PGM3
146Annotation 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>
D6RF77D6RF77_HUMAN
Phosphoacetylglucosamine mutase
PGM3
156Annotation 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>
A0A494C099A0A494C099_HUMAN
Phosphoacetylglucosamine mutase
PGM3
285Annotation 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>
There are more potential isoformsShow all

<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 BAB14652 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 conflicti5A → V in BAG63306 (PubMed:14702039).Curated1
Sequence conflicti70D → G in BAG63306 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07135983L → S in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608260EnsemblClinVar.1
Natural variantiVAR_071360239D → H in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs869312886EnsemblClinVar.1
Natural variantiVAR_071361246N → S in IMD23; loss of phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777562EnsemblClinVar.1
Natural variantiVAR_071362297D → E in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777415EnsemblClinVar.1
Natural variantiVAR_071363340Missing in IMD23; decreased phosphoacetylglucosamine mutase activity; decreased protein abundance. 1 Publication1
Natural variantiVAR_071364451Q → R in IMD23; decreased phosphoacetylglucosamine mutase activity. 1 PublicationCorresponds to variant dbSNP:rs587777565EnsemblClinVar.1
Natural variantiVAR_013489466D → N in allele PGM3*2. 3 PublicationsCorresponds to variant dbSNP:rs473267Ensembl.1
Natural variantiVAR_071365501E → Q in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs587777413EnsemblClinVar.1
Natural variantiVAR_071366502D → Y in IMD23; decreased phosphoacetylglucosamine mutase activity; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs267608261EnsemblClinVar.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_0473191M → MGGEWGQSAICPESAQEWTY QVGQHLVDM in isoform 3. 1 Publication1
Alternative sequenceiVSP_047320542F → YKAAETTHNINNAFGPGTAN EHTVP in isoform 2. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF102265 mRNA Translation: AAC72409.1
AF180371 mRNA Translation: AAD55097.1
AB032081 mRNA Translation: BAB00613.1
AK023709 mRNA Translation: BAB14652.1 Different initiation.
AK301867 mRNA Translation: BAG63306.1
AK314512 mRNA Translation: BAG37112.1
AL049699 Genomic DNA No translation available.
AL121716 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48670.1
CH471051 Genomic DNA Translation: EAW48671.1
BC001258 mRNA Translation: AAH01258.1
AL117443 mRNA Translation: CAB55928.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4997.1 [O95394-1]
CCDS56435.1 [O95394-3]
CCDS56436.1 [O95394-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17238

NCBI Reference Sequences

More...
RefSeqi
NP_001186846.1, NM_001199917.1 [O95394-4]
NP_001186848.1, NM_001199919.1 [O95394-3]
NP_056414.1, NM_015599.2 [O95394-1]
XP_016866425.1, XM_017010936.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000506587; ENSP00000425809; ENSG00000013375 [O95394-4]
ENST00000512866; ENSP00000421565; ENSG00000013375 [O95394-3]
ENST00000513973; ENSP00000424874; ENSG00000013375 [O95394-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5238

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5238

UCSC genome browser

More...
UCSCi
uc003pju.3 human [O95394-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF102265 mRNA Translation: AAC72409.1
AF180371 mRNA Translation: AAD55097.1
AB032081 mRNA Translation: BAB00613.1
AK023709 mRNA Translation: BAB14652.1 Different initiation.
AK301867 mRNA Translation: BAG63306.1
AK314512 mRNA Translation: BAG37112.1
AL049699 Genomic DNA No translation available.
AL121716 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48670.1
CH471051 Genomic DNA Translation: EAW48671.1
BC001258 mRNA Translation: AAH01258.1
AL117443 mRNA Translation: CAB55928.1
CCDSiCCDS4997.1 [O95394-1]
CCDS56435.1 [O95394-3]
CCDS56436.1 [O95394-4]
PIRiT17238
RefSeqiNP_001186846.1, NM_001199917.1 [O95394-4]
NP_001186848.1, NM_001199919.1 [O95394-3]
NP_056414.1, NM_015599.2 [O95394-1]
XP_016866425.1, XM_017010936.1

3D structure databases

SMRiO95394
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111257, 21 interactors
IntActiO95394, 3 interactors
STRINGi9606.ENSP00000425809

PTM databases

iPTMnetiO95394
PhosphoSitePlusiO95394

Polymorphism and mutation databases

BioMutaiPGM3

Proteomic databases

EPDiO95394
jPOSTiO95394
MassIVEiO95394
MaxQBiO95394
PaxDbiO95394
PeptideAtlasiO95394
PRIDEiO95394
ProteomicsDBi14425
20051
50845 [O95394-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5238

Genome annotation databases

EnsembliENST00000506587; ENSP00000425809; ENSG00000013375 [O95394-4]
ENST00000512866; ENSP00000421565; ENSG00000013375 [O95394-3]
ENST00000513973; ENSP00000424874; ENSG00000013375 [O95394-1]
GeneIDi5238
KEGGihsa:5238
UCSCiuc003pju.3 human [O95394-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5238
DisGeNETi5238

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PGM3
GeneReviewsiPGM3
HGNCiHGNC:8907 PGM3
HPAiCAB004998
HPA029759
HPA029760
MalaCardsiPGM3
MIMi172100 gene
615816 phenotype
neXtProtiNX_O95394
OpenTargetsiENSG00000013375
Orphaneti443811 PGM3-CDG
PharmGKBiPA33244

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2537 Eukaryota
COG1109 LUCA
GeneTreeiENSGT00390000000509
HOGENOMiHOG000210027
InParanoidiO95394
KOiK01836
OMAiPGDRCCS
OrthoDBi345441at2759
PhylomeDBiO95394
TreeFamiTF105670

Enzyme and pathway databases

UniPathwayiUPA00113;UER00530
BioCyciMetaCyc:HS00347-MONOMER
BRENDAi5.4.2.3 2681
ReactomeiR-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
SABIO-RKiO95394

Miscellaneous databases

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

More...
ChiTaRSi
PGM3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Phosphoglucomutase_3

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

More...
GenomeRNAii
5238
PharosiO95394

Protein Ontology

More...
PROi
PR:O95394

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000013375 Expressed in 210 organ(s), highest expression level in body of pancreas
ExpressionAtlasiO95394 baseline and differential
GenevisibleiO95394 HS

Family and domain databases

CDDicd03086 PGM3, 1 hit
InterProiView protein in InterPro
IPR005844 A-D-PHexomutase_a/b/a-I
IPR016055 A-D-PHexomutase_a/b/a-I/II/III
IPR005843 A-D-PHexomutase_C
IPR036900 A-D-PHexomutase_C_sf
IPR016066 A-D-PHexomutase_CS
IPR016657 PAGM
PfamiView protein in Pfam
PF02878 PGM_PMM_I, 2 hits
PF00408 PGM_PMM_IV, 1 hit
PIRSFiPIRSF016408 PAGM, 1 hit
SUPFAMiSSF53738 SSF53738, 3 hits
SSF55957 SSF55957, 1 hit
PROSITEiView protein in PROSITE
PS00710 PGM_PMM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiAGM1_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: O95394
Secondary accession number(s): B2RB65
, B4DX94, D6RF12, E1P547, E9PF86, Q5JWR4, Q96J46, Q9H8G5, Q9NS94, Q9NTT6, Q9UFV5, Q9UIY2
<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: January 24, 2001
Last sequence update: May 1, 1999
Last modified: November 13, 2019
This is version 197 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
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