Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PGAM1 Gene

Aliases for PGAM1 Gene

  • Phosphoglycerate Mutase 1 (Brain) 2 3
  • Phosphoglycerate Mutase Isozyme B 3 4
  • BPG-Dependent PGAM 1 3 4
  • PGAM-B 3 4
  • PGAMA 3 4
  • Phosphoglycerate Mutase A, Nonmuscle Form 3
  • Epididymis Secretory Protein Li 35 3
  • Phosphoglycerate Mutase A 2
  • Nonmuscle Form 2
  • EC 3.1.3.13 4
  • EC 5.4.2.11 4
  • EC 5.4.2.1 63
  • EC 5.4.2.4 4
  • HEL-S-35 3

External Ids for PGAM1 Gene

Previous HGNC Symbols for PGAM1 Gene

  • PGAMA

Previous GeneCards Identifiers for PGAM1 Gene

  • GC10P098079
  • GC10P098419
  • GC10P099317
  • GC10P098850
  • GC10P099176
  • GC10P092811

Summaries for PGAM1 Gene

Entrez Gene Summary for PGAM1 Gene

  • The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

GeneCards Summary for PGAM1 Gene

PGAM1 (Phosphoglycerate Mutase 1 (Brain)) is a Protein Coding gene. Diseases associated with PGAM1 include corticobasal degeneration and phosphoglycerate mutase deficiency. Among its related pathways are Central carbon metabolism in cancer and Metabolism. GO annotations related to this gene include protein kinase binding and bisphosphoglycerate mutase activity. An important paralog of this gene is PGAM4.

UniProtKB/Swiss-Prot for PGAM1 Gene

  • 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) and EC 3.1.3.13 (phosphatase), but with a reduced activity

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAM1 Gene

Genomics for PGAM1 Gene

Regulatory Elements for PGAM1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PGAM1 Gene

Chromosome:
10
Start:
97,426,160 bp from pter
End:
97,433,441 bp from pter
Size:
7,282 bases
Orientation:
Plus strand

Genomic View for PGAM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PGAM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGAM1 Gene

Proteins for PGAM1 Gene

  • Protein details for PGAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18669-PGAM1_HUMAN
    Recommended name:
    Phosphoglycerate mutase 1
    Protein Accession:
    P18669
    Secondary Accessions:
    • Q9BWC0

    Protein attributes for PGAM1 Gene

    Size:
    254 amino acids
    Molecular mass:
    28804 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PGAM1 Gene

neXtProt entry for PGAM1 Gene

Proteomics data for PGAM1 Gene at MOPED

Selected DME Specific Peptides for PGAM1 Gene

Post-translational modifications for PGAM1 Gene

  • Acetylated at Lys-253, Lys-253 and Lys-254 under high glucose condition. Acetylation increases catalytic activity. Under glucose restriction SIRT1 levels dramatically increase and it deacetylates the enzyme.
  • Ubiquitination at Lys 5 and Lys 195
  • Modification sites at PhosphoSitePlus

Other Protein References for PGAM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PGAM1 (PGAM1)

Domains & Families for PGAM1 Gene

Gene Families for PGAM1 Gene

Graphical View of Domain Structure for InterPro Entry

P18669

UniProtKB/Swiss-Prot:

PGAM1_HUMAN :
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
Family:
  • Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
genes like me logo Genes that share domains with PGAM1: view

Function for PGAM1 Gene

Molecular function for PGAM1 Gene

GENATLAS Biochemistry:
phosphoglycerate mutase 1,brain isoform,glycolysis,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
2-phospho-D-glycerate = 3-phospho-D-glycerate
UniProtKB/Swiss-Prot CatalyticActivity:
3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate
UniProtKB/Swiss-Prot CatalyticActivity:
2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate
UniProtKB/Swiss-Prot Function:
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) and EC 3.1.3.13 (phosphatase), but with a reduced activity

Enzyme Numbers (IUBMB) for PGAM1 Gene

Gene Ontology (GO) - Molecular Function for PGAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004082 bisphosphoglycerate mutase activity IEA --
GO:0004083 bisphosphoglycerate 2-phosphatase activity IEA --
GO:0004619 phosphoglycerate mutase activity NAS 2846554
GO:0005515 protein binding IPI 20849852
genes like me logo Genes that share ontologies with PGAM1: view

Phenotypes for PGAM1 Gene

genes like me logo Genes that share phenotypes with PGAM1: view

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PGAM1 Gene

Localization for PGAM1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PGAM1 Gene COMPARTMENTS Subcellular localization image for PGAM1 gene
Compartment Confidence
cytosol 5
extracellular 5
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PGAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22590500
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PGAM1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PGAM1 Gene

Pathways & Interactions for PGAM1 Gene

genes like me logo Genes that share pathways with PGAM1: view

Pathways by source for PGAM1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for PGAM1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PGAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IDA 22590500
GO:0006110 regulation of glycolytic process IDA 12189148
genes like me logo Genes that share ontologies with PGAM1: view

Drugs & Compounds for PGAM1 Gene

(3) Drugs for PGAM1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-Phospho-D-glyceric acid Experimental Pharma 0
2-Phosphoglyceric acid Experimental Pharma 0
3-Phosphoglyceric acid Experimental Pharma 0

(6) Additional Compounds for PGAM1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,3-Diphosphoglyceric acid
  • (2R)-2,3-bis(phosphonooxy)-Propanoate
  • (2R)-2,3-bis(phosphonooxy)-Propanoic acid
  • (R)-2,3-bis(phosphonooxy)-Propanoate
  • (R)-2,3-bis(phosphonooxy)-Propanoic acid
  • 2,3-Bis(phosphonooxy)-Propanoate
138-81-8
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
1981-49-3
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
glyceraldehyde 3-phosphate
genes like me logo Genes that share compounds with PGAM1: view

Transcripts for PGAM1 Gene

mRNA/cDNA for PGAM1 Gene

Unigene Clusters for PGAM1 Gene

Phosphoglycerate mutase 1 (brain):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PGAM1 Gene

No ASD Table

Relevant External Links for PGAM1 Gene

GeneLoc Exon Structure for
PGAM1
ECgene alternative splicing isoforms for
PGAM1

Expression for PGAM1 Gene

mRNA expression in normal human tissues for PGAM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PGAM1 Gene



SOURCE GeneReport for Unigene cluster for PGAM1 Gene Hs.632918

mRNA Expression by UniProt/SwissProt for PGAM1 Gene

P18669-PGAM1_HUMAN
Tissue specificity: In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in muscles and type-B in other tissues
genes like me logo Genes that share expression patterns with PGAM1: view

Protein tissue co-expression partners for PGAM1 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for PGAM1 Gene

Orthologs for PGAM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGAM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PGAM1 35
  • 93.7 (n)
  • 99.21 (a)
-- 36
  • 92 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia PGAM1 35
  • 94.62 (n)
  • 99.61 (a)
PGAM1 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgam1 35
  • 90.94 (n)
  • 99.61 (a)
Pgam1 16
Pgam1 36
  • 100 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PGAM1 35
  • 99.48 (n)
  • 100 (a)
PGAM1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pgam1 35
  • 90.68 (n)
  • 97.24 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
chicken
(Gallus gallus)
Aves PGAM1 35
  • 82.15 (n)
  • 92.91 (a)
PGAM1 36
  • 95 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pgam1 35
  • 76.64 (n)
  • 87.8 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.27123 35
pgam1b 35
  • 77.95 (n)
  • 90.16 (a)
pgam1a 36
  • 90 (a)
ManyToMany
pgam1b 36
  • 91 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7059 37
  • 39 (a)
Pglym78 37
  • 68 (a)
Pglym87 37
  • 63 (a)
Pglym78 35
  • 68.93 (n)
  • 68.8 (a)
Pglym78 36
  • 67 (a)
ManyToMany
Pglym87 36
  • 55 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001420 35
  • 63.62 (n)
  • 64.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 36
  • 51 (a)
OneToMany
-- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G22170 35
  • 50.54 (n)
  • 47.83 (a)
rice
(Oryza sativa)
Liliopsida Os02g0751800 35
  • 51.81 (n)
  • 47.83 (a)
corn
(Zea mays)
Liliopsida Zm.8551 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4977 36
  • 64 (a)
OneToMany
Species with no ortholog for PGAM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PGAM1 Gene

ENSEMBL:
Gene Tree for PGAM1 (if available)
TreeFam:
Gene Tree for PGAM1 (if available)

Paralogs for PGAM1 Gene

Paralogs for PGAM1 Gene

(3) SIMAP similar genes for PGAM1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PGAM1: view

Variants for PGAM1 Gene

Sequence variations from dbSNP and Humsavar for PGAM1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs764223 -- 97,432,178(+) TTAAT(A/G)GCTGA intron-variant
rs2861949 -- 97,430,405(+) TCTGC(C/T)TCACC missense, reference
rs2861950 -- 97,433,368(+) ATGGG(C/T)CCAGT utr-variant-3-prime
rs2861951 -- 97,433,407(+) CTTTT(A/T)CCATA utr-variant-3-prime
rs3979508 -- 97,432,647(+) GCAGA(C/T)GGGGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PGAM1 Gene

Variant ID Type Subtype PubMed ID
nsv467440 CNV Loss 19166990

Variation tolerance for PGAM1 Gene

Residual Variation Intolerance Score: 74.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PGAM1 Gene

HapMap Linkage Disequilibrium report
PGAM1
Human Gene Mutation Database (HGMD)
PGAM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAM1 Gene

Disorders for PGAM1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PGAM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
corticobasal degeneration
  • cbgd
phosphoglycerate mutase deficiency
  • glycogen storage disease x
fructose-1,6-bisphosphatase deficiency
  • fructose 1 phosphate aldolase deficiency
menkes disease
  • copper transport disease
- elite association
Search PGAM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PGAM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGAM1
genes like me logo Genes that share disorders with PGAM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PGAM1 Gene

Publications for PGAM1 Gene

  1. Molecular dynamics study of interaction and substrate channeling between neuron-specific enolase and B-type phosphoglycerate mutase. (PMID: 20143318) Hakobyan D. … Nazaryan K. (Proteins 2010) 23 67
  2. Redox proteomic analysis of carbonylated brain proteins in mild cognitive impairment and early Alzheimer's disease. (PMID: 19686046) Sultana R. … Butterfield D.A. (Antioxid. Redox Signal. 2010) 23 67
  3. High prevalence of autoantibodies against phosphoglycerate mutase 1 in patients with autoimmune central nervous system diseases. (PMID: 19969379) Kimura A. … Inuzuka T. (J. Neuroimmunol. 2010) 23 67
  4. Quantitative proteomics identification of phosphoglycerate mutase 1 as a novel therapeutic target in hepatocellular carcinoma. (PMID: 20403181) Ren F. … Huang C. (Mol. Cancer 2010) 23 67
  5. Subproteome analysis of the neutrophil cytoskeleton. (PMID: 19294702) Xu P. … Radulovic M. (Proteomics 2009) 23 67

Products for PGAM1 Gene

Sources for PGAM1 Gene

Back to Top

Content