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Protein

Phosphoglycerate mutase 2

Gene

PGAM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.

Catalytic activityi

2-phospho-D-glycerate = 3-phospho-D-glycerate.By similarity
3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei11Tele-phosphohistidine intermediateBy similarity1
Binding sitei62SubstrateBy similarity1
Active sitei89Proton donor/acceptorBy similarity1
Binding sitei100SubstrateBy similarity1
Sitei186Transition state stabilizerBy similarity1

GO - Molecular functioni

GO - Biological processi

  • canonical glycolysis Source: Reactome
  • gluconeogenesis Source: GO_Central
  • glycolytic process Source: UniProtKB
  • Notch signaling pathway Source: Ensembl
  • regulation of pentose-phosphate shunt Source: GO_Central
  • response to mercury ion Source: Ensembl
  • spermatogenesis Source: Ensembl
  • striated muscle contraction Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Isomerase

Keywords - Biological processi

Glycolysis

Enzyme and pathway databases

BioCyciMetaCyc:HS09121-MONOMER.
ZFISH:HS09121-MONOMER.
ReactomeiR-HSA-70171. Glycolysis.
R-HSA-70263. Gluconeogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphoglycerate mutase 2 (EC:5.4.2.11By similarity, EC:5.4.2.4By similarity)
Alternative name(s):
BPG-dependent PGAM 2
Muscle-specific phosphoglycerate mutase
Phosphoglycerate mutase isozyme M
Short name:
PGAM-M
Gene namesi
Name:PGAM2
Synonyms:PGAMM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:8889. PGAM2.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: GO_Central
  • extracellular exosome Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 10 (GSD10)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.
See also OMIM:261670
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00608889E → A in GSD10. 1 PublicationCorresponds to variant rs104894030dbSNPEnsembl.1
Natural variantiVAR_00608990R → W in GSD10. 1 PublicationCorresponds to variant rs104894034dbSNPEnsembl.1
Natural variantiVAR_01310397G → D in GSD10. 1 PublicationCorresponds to variant rs77938727dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi5224.
MalaCardsiPGAM2.
MIMi261670. phenotype.
OpenTargetsiENSG00000164708.
Orphaneti97234. Glycogen storage disease due to phosphoglycerate mutase deficiency.
PharmGKBiPA33226.

Polymorphism and mutation databases

BioMutaiPGAM2.
DMDMi130353.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001798291 – 253Phosphoglycerate mutase 2Add BLAST253

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei3PhosphothreonineBy similarity1
Modified residuei14PhosphoserineBy similarity1
Modified residuei118PhosphoserineBy similarity1
Modified residuei132PhosphotyrosineBy similarity1
Modified residuei133PhosphotyrosineBy similarity1
Modified residuei135PhosphoserineBy similarity1
Modified residuei152PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP15259.
MaxQBiP15259.
PaxDbiP15259.
PeptideAtlasiP15259.
PRIDEiP15259.

2D gel databases

UCD-2DPAGEP15259.

PTM databases

DEPODiP15259.
iPTMnetiP15259.
PhosphoSitePlusiP15259.

Expressioni

Tissue specificityi

Expressed in the heart and muscle. Not found in the liver and brain.1 Publication

Gene expression databases

BgeeiENSG00000164708.
CleanExiHS_PGAM2.
GenevisibleiP15259. HS.

Organism-specific databases

HPAiHPA049237.
HPA060173.

Interactioni

Subunit structurei

Homodimer. Interacts with ENO1.By similarity

Protein-protein interaction databases

BioGridi111245. 12 interactors.
IntActiP15259. 4 interactors.
STRINGi9606.ENSP00000297283.

Structurei

3D structure databases

ProteinModelPortaliP15259.
SMRiP15259.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni10 – 17Substrate bindingBy similarity8
Regioni23 – 24Substrate bindingBy similarity2
Regioni89 – 92Substrate bindingBy similarity4
Regioni116 – 117Substrate bindingBy similarity2
Regioni187 – 188Substrate bindingBy similarity2

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi122 – 125Poly-Pro4

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0235. Eukaryota.
COG0588. LUCA.
GeneTreeiENSGT00390000016700.
HOGENOMiHOG000221682.
HOVERGENiHBG027528.
InParanoidiP15259.
KOiK01834.
OMAiMSDAAIM.
OrthoDBiEOG091G0GIS.
PhylomeDBiP15259.
TreeFamiTF300007.

Family and domain databases

CDDicd07067. HP_PGM_like. 1 hit.
Gene3Di3.40.50.1240. 1 hit.
HAMAPiMF_01039. PGAM_GpmA. 1 hit.
InterProiIPR013078. His_Pase_superF_clade-1.
IPR029033. His_PPase_superfam.
IPR001345. PG/BPGM_mutase_AS.
IPR005952. Phosphogly_mut1.
[Graphical view]
PANTHERiPTHR11931. PTHR11931. 1 hit.
PfamiPF00300. His_Phos_1. 2 hits.
[Graphical view]
SMARTiSM00855. PGAM. 1 hit.
[Graphical view]
SUPFAMiSSF53254. SSF53254. 1 hit.
TIGRFAMsiTIGR01258. pgm_1. 1 hit.
PROSITEiPS00175. PG_MUTASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P15259-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATHRLVMVR HGESTWNQEN RFCGWFDAEL SEKGTEEAKR GAKAIKDAKM
60 70 80 90 100
EFDICYTSVL KRAIRTLWAI LDGTDQMWLP VVRTWRLNER HYGGLTGLNK
110 120 130 140 150
AETAAKHGEE QVKIWRRSFD IPPPPMDEKH PYYNSISKER RYAGLKPGEL
160 170 180 190 200
PTCESLKDTI ARALPFWNEE IVPQIKAGKR VLIAAHGNSL RGIVKHLEGM
210 220 230 240 250
SDQAIMELNL PTGIPIVYEL NKELKPTKPM QFLGDEETVR KAMEAVAAQG

KAK
Length:253
Mass (Da):28,766
Last modified:January 23, 2007 - v3
Checksum:i0FDC97631104FCF7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14S → T in AAA60072 (PubMed:2822696).Curated1
Sequence conflicti65R → P in AAA60073 (PubMed:2549058).Curated1
Sequence conflicti85W → C (PubMed:2549058).Curated1
Sequence conflicti87L → F (PubMed:2549058).Curated1
Sequence conflicti87L → F (PubMed:2822696).Curated1
Sequence conflicti98L → F in AAA60072 (PubMed:2822696).Curated1
Sequence conflicti113 – 114KI → RS in AAA60072 (PubMed:2822696).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00608889E → A in GSD10. 1 PublicationCorresponds to variant rs104894030dbSNPEnsembl.1
Natural variantiVAR_00608990R → W in GSD10. 1 PublicationCorresponds to variant rs104894034dbSNPEnsembl.1
Natural variantiVAR_01310397G → D in GSD10. 1 PublicationCorresponds to variant rs77938727dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55674, M55673 Genomic DNA. Translation: AAA64238.1.
J05073 Genomic DNA. Translation: AAA60073.1.
M18172 mRNA. Translation: AAA60072.1.
BC001904 mRNA. Translation: AAH01904.1.
BC073741 mRNA. Translation: AAH73741.1.
CCDSiCCDS34624.1.
PIRiJQ0750. PMHUYM.
RefSeqiNP_000281.2. NM_000290.3.
UniGeneiHs.632642.

Genome annotation databases

EnsembliENST00000297283; ENSP00000297283; ENSG00000164708.
GeneIDi5224.
KEGGihsa:5224.
UCSCiuc003tjs.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55674, M55673 Genomic DNA. Translation: AAA64238.1.
J05073 Genomic DNA. Translation: AAA60073.1.
M18172 mRNA. Translation: AAA60072.1.
BC001904 mRNA. Translation: AAH01904.1.
BC073741 mRNA. Translation: AAH73741.1.
CCDSiCCDS34624.1.
PIRiJQ0750. PMHUYM.
RefSeqiNP_000281.2. NM_000290.3.
UniGeneiHs.632642.

3D structure databases

ProteinModelPortaliP15259.
SMRiP15259.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111245. 12 interactors.
IntActiP15259. 4 interactors.
STRINGi9606.ENSP00000297283.

PTM databases

DEPODiP15259.
iPTMnetiP15259.
PhosphoSitePlusiP15259.

Polymorphism and mutation databases

BioMutaiPGAM2.
DMDMi130353.

2D gel databases

UCD-2DPAGEP15259.

Proteomic databases

EPDiP15259.
MaxQBiP15259.
PaxDbiP15259.
PeptideAtlasiP15259.
PRIDEiP15259.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297283; ENSP00000297283; ENSG00000164708.
GeneIDi5224.
KEGGihsa:5224.
UCSCiuc003tjs.3. human.

Organism-specific databases

CTDi5224.
DisGeNETi5224.
GeneCardsiPGAM2.
HGNCiHGNC:8889. PGAM2.
HPAiHPA049237.
HPA060173.
MalaCardsiPGAM2.
MIMi261670. phenotype.
612931. gene.
neXtProtiNX_P15259.
OpenTargetsiENSG00000164708.
Orphaneti97234. Glycogen storage disease due to phosphoglycerate mutase deficiency.
PharmGKBiPA33226.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0235. Eukaryota.
COG0588. LUCA.
GeneTreeiENSGT00390000016700.
HOGENOMiHOG000221682.
HOVERGENiHBG027528.
InParanoidiP15259.
KOiK01834.
OMAiMSDAAIM.
OrthoDBiEOG091G0GIS.
PhylomeDBiP15259.
TreeFamiTF300007.

Enzyme and pathway databases

BioCyciMetaCyc:HS09121-MONOMER.
ZFISH:HS09121-MONOMER.
ReactomeiR-HSA-70171. Glycolysis.
R-HSA-70263. Gluconeogenesis.

Miscellaneous databases

GenomeRNAii5224.
PROiP15259.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164708.
CleanExiHS_PGAM2.
GenevisibleiP15259. HS.

Family and domain databases

CDDicd07067. HP_PGM_like. 1 hit.
Gene3Di3.40.50.1240. 1 hit.
HAMAPiMF_01039. PGAM_GpmA. 1 hit.
InterProiIPR013078. His_Pase_superF_clade-1.
IPR029033. His_PPase_superfam.
IPR001345. PG/BPGM_mutase_AS.
IPR005952. Phosphogly_mut1.
[Graphical view]
PANTHERiPTHR11931. PTHR11931. 1 hit.
PfamiPF00300. His_Phos_1. 2 hits.
[Graphical view]
SMARTiSM00855. PGAM. 1 hit.
[Graphical view]
SUPFAMiSSF53254. SSF53254. 1 hit.
TIGRFAMsiTIGR01258. pgm_1. 1 hit.
PROSITEiPS00175. PG_MUTASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPGAM2_HUMAN
AccessioniPrimary (citable) accession number: P15259
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 178 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.