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Aliases for PGAM1 Gene

Aliases for PGAM1 Gene

  • Phosphoglycerate Mutase 1 2 3 5
  • Phosphoglycerate Mutase A, Nonmuscle Form 2 3
  • 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
  • Epididymis Secretory Protein Li 35 3
  • EC 5.4.2.11 4
  • EC 5.4.2.1 56
  • 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) is a Protein Coding gene. Diseases associated with PGAM1 include Phosphoglycerate Mutase Deficiency and Corticobasal Degeneration. Among its related pathways are Glucose metabolism and Glycosaminoglycan metabolism. Gene Ontology (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), but with a reduced activity.

Additional gene information for PGAM1 Gene

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

Genomics for PGAM1 Gene

GeneHancer (GH) Regulatory Elements for PGAM1 Gene

Promoters and enhancers for PGAM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I097424 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.7 +0.8 812 4.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 SP3 PGAM1 LOC644215 RRP12 GC10M097416 TM9SF3 MARVELD1 RPL13AP5 EXOSC1 LOXL4 GC10P097430
GH10I097444 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 22.1 +20.5 20526 3.7 PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZDHHC16 EXOSC1 PGAM1 ENSG00000200737 RRP12 MMS19 UBTD1 ANKRD2
GH10I097399 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.8 -25.3 -25283 2.5 FOXA2 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 E2F8 FOS SP3 ZHX2 RRP12 ENSG00000231970 ENSG00000200737 PGAM1 MMS19 UBTD1 ARHGAP19 RPL34P20 LOC644215
GH10I097412 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.6 -12.1 -12093 3.1 ELF3 ATF1 TAF9B NFRKB BMI1 ZNF121 POLR2B EGR1 FOS ATF7 RRP12 EXOSC1 ZDHHC16 MMS19 UBTD1 PGAM1 LCOR ZFYVE27 ARHGAP19 FRAT1
GH10I097417 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.2 -6.6 -6556 3.2 HDAC1 ELF3 HDGF PKNOX1 FOXA2 TAF9B NFRKB KLF17 ZNF335 TCF12 ENSG00000200737 GC10M097424 GC10M097425 PIR45391 RRP12 EXOSC1 ZDHHC16 UBTD1 MMS19 PGAM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PGAM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGAM1 gene promoter:

Genomic Locations for PGAM1 Gene

Genomic Locations for PGAM1 Gene
chr10:97,426,160-97,433,441
(GRCh38/hg38)
Size:
7,282 bases
Orientation:
Plus strand
chr10:99,185,917-99,193,198
(GRCh37/hg19)

Genomic View for PGAM1 Gene

Genes around PGAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for PGAM1 Gene

P18669:
  • RAIRTLW
  • IWRRSYD
  • GLNKAETA
  • LVLIRHG
  • WRRSYDV
  • AHGNSLR
  • VLIAAHGNS
  • LNERHYG

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 isoforms=5 and Lys195
  • Modification sites at PhosphoSitePlus

Other Protein References for PGAM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PGAM1 Gene

Gene Families for PGAM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

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 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), but with a reduced activity.

Enzyme Numbers (IUBMB) for PGAM1 Gene

Phenotypes From GWAS Catalog for PGAM1 Gene

Gene Ontology (GO) - Molecular Function for PGAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004082 bisphosphoglycerate mutase activity IEA --
GO:0004619 phosphoglycerate mutase activity NAS 2846554
GO:0005515 protein binding IPI 20849852
GO:0016787 hydrolase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with PGAM1: view
genes like me logo Genes that share phenotypes with PGAM1: view

miRNA for PGAM1 Gene

miRTarBase miRNAs that target PGAM1

Clone Products

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

Localization for PGAM1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGAM1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PGAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA 22590500
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,HDA 19946888
GO:0034774 secretory granule lumen TAS --
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

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:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IDA 22590500
GO:0006110 regulation of glycolytic process IDA 12189148
GO:0008152 metabolic process IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with PGAM1: view

Drugs & Compounds for PGAM1 Gene

(5) Drugs for PGAM1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
2-phospho-D-glyceric acid Experimental Pharma 0
3-Phosphoglyceric acid Experimental Pharma 0

(5) 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
2-Phosphoglyceric acid
  • 2-(Dihydrogen phosphate)Glycerate
  • 2-(Dihydrogen phosphate)Glyceric acid
  • 2-P-D-Glycerate
  • 2-P-D-Glyceric acid
  • 2-P-Glycerate
2553-59-5
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
genes like me logo Genes that share compounds with PGAM1: view

Transcripts for PGAM1 Gene

Unigene Clusters for PGAM1 Gene

Phosphoglycerate mutase 1 (brain):
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PGAM1 Gene



Protein tissue co-expression partners for PGAM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PGAM1 Gene:

PGAM1

SOURCE GeneReport for Unigene cluster for PGAM1 Gene:

Hs.632918

mRNA Expression by UniProt/SwissProt for PGAM1 Gene:

P18669-PGAM1_HUMAN
Tissue specificity: Expressed in the liver and brain. Not found in the muscle.

Evidence on tissue expression from TISSUES for PGAM1 Gene

  • Nervous system(5)
  • Skin(4.9)
  • Liver(4.7)
  • Blood(4.6)
  • Eye(4.6)
  • Lung(4.6)
  • Intestine(4.5)
  • Pancreas(4.5)
  • Kidney(4.2)
  • Muscle(3.2)
  • Stomach(3.1)
  • Heart(3)
  • Bone(2.8)
genes like me logo Genes that share expression patterns with PGAM1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PGAM1 33 34
  • 99.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PGAM1 33 34
  • 94.62 (n)
cow
(Bos Taurus)
Mammalia PGAM1 33
  • 93.7 (n)
-- 34
  • 92 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Pgam1 33 16 34
  • 90.94 (n)
rat
(Rattus norvegicus)
Mammalia Pgam1 33
  • 90.68 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves PGAM1 33 34
  • 82.15 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pgam1 33
  • 76.64 (n)
zebrafish
(Danio rerio)
Actinopterygii pgam1a 34
  • 90 (a)
ManyToMany
pgam1b 33 34
  • 77.95 (n)
Dr.27123 33
fruit fly
(Drosophila melanogaster)
Insecta Pglym78 35 33 34
  • 68.93 (n)
Pglym87 35 34
  • 63 (a)
CG7059 35
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001420 33
  • 63.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPM1 34
  • 51 (a)
OneToMany
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G22170 33
  • 50.54 (n)
rice
(Oryza sativa)
Liliopsida Os02g0751800 33
  • 51.81 (n)
corn
(Zea mays)
Liliopsida Zm.8551 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4977 34
  • 64 (a)
OneToMany
Species where no ortholog for PGAM1 was found in the sources mined by GeneCards:
  • 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

Variants for PGAM1 Gene

Sequence variations from dbSNP and Humsavar for PGAM1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000228933 -- 97,432,670(+) C/T 3_prime_UTR_variant
rs1000279551 -- 97,429,260(+) T/C intron_variant
rs1000438205 -- 97,426,856(+) GAAA/GAAAGAAA genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000882169 -- 97,431,538(+) G/T intron_variant
rs1000882977 -- 97,433,563(+) C/T downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3624313 CNV gain 21293372
nsv1110852 OTHER inversion 24896259
nsv467440 CNV loss 19166990
nsv552025 CNV loss 21841781
nsv948158 CNV duplication 23825009

Variation tolerance for PGAM1 Gene

Residual Variation Intolerance Score: 74.8% 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)

Additional Variant Information for PGAM1 Gene

Human Gene Mutation Database (HGMD)
PGAM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGAM1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PGAM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PGAM1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
phosphoglycerate mutase deficiency
  • glycogen storage disease x
corticobasal degeneration
  • cbgd
chromosome 10q26 deletion syndrome
  • terminal chromosome 10q26 deletion syndrome
myasthenic syndrome, congenital, 5
  • cms5
renal clear cell carcinoma
  • clear cell carcinoma of kidney
- elite association - COSMIC cancer census association via MalaCards
Search PGAM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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. Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family. (PMID: 2846553) Sakoda S … Schon EA (The Journal of biological chemistry 1988) 2 3 4 58
  2. Tyr26 phosphorylation of PGAM1 provides a metabolic advantage to tumours by stabilizing the active conformation. (PMID: 23653202) Hitosugi T … Chen J (Nature communications 2013) 3 4 58
  3. Regulation of glycolytic enzyme phosphoglycerate mutase-1 by Sirt1 protein-mediated deacetylation. (PMID: 22157007) Hallows WC … Denu JM (The Journal of biological chemistry 2012) 3 4 58
  4. Redox proteomic analysis of carbonylated brain proteins in mild cognitive impairment and early Alzheimer's disease. (PMID: 19686046) Sultana R … Butterfield DA (Antioxidants & redox signaling 2010) 3 22 58
  5. Quantitative proteomics identification of phosphoglycerate mutase 1 as a novel therapeutic target in hepatocellular carcinoma. (PMID: 20403181) Ren F … Huang C (Molecular cancer 2010) 3 22 58

Products for PGAM1 Gene

Sources for PGAM1 Gene

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