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PGAM1 phosphoglycerate mutase 1 [ Homo sapiens (human) ]

Gene ID: 5223, updated on 3-Nov-2024

Summary

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Official Symbol
PGAM1provided by HGNC
Official Full Name
phosphoglycerate mutase 1provided by HGNC
Primary source
HGNC:HGNC:8888
See related
Ensembl:ENSG00000171314 MIM:172250; AllianceGenome:HGNC:8888
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PGAMA; PGAM-B; HEL-S-35
Summary
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]
Expression
Ubiquitous expression in esophagus (RPKM 137.6), brain (RPKM 137.2) and 25 other tissues See more
Orthologs
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Genomic context

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See PGAM1 in Genome Data Viewer
Location:
10q24.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (97426191..97433444)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (98306372..98313625)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99185948..99193201)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ribosomal RNA processing 12 homolog Neighboring gene ReSE screen-validated silencer GRCh37_chr10:99154004-99154171 Neighboring gene ribosomal protein L34 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3850 Neighboring gene Sharpr-MPRA regulatory region 6385 Neighboring gene uncharacterized LOC644215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2677 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:99186899-99187121 Neighboring gene exosome component 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99204892-99205472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99205473-99206052 Neighboring gene zinc finger DHHC-type palmitoyltransferase 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Tyr26 phosphorylation of PGAM1 provides a metabolic advantage to tumours by stabilizing the active conformation. Hitosugi T, et al. Nat Commun, 2013. PMID 23653202, Free PMC Article
  2. Phosphoglycerate mutase 1 in cancer: A promising target for diagnosis and therapy. Sharif F, et al. IUBMB Life, 2019 Oct. PMID 31169978
  3. Circ-PGAM1 promotes malignant progression of epithelial ovarian cancer through regulation of the miR-542-3p/CDC5L/PEAK1 pathway. Zhang C, et al. Cancer Med, 2020 May. PMID 32167655, Free PMC Article
  4. Phosphoglycerate mutase 1 knockdown inhibits prostate cancer cell growth, migration, and invasion. Wen YA, et al. Asian J Androl, 2018 Mar-Apr. PMID 29271400, Free PMC Article
  5. Bisphosphoglycerate mutase controls serine pathway flux via 3-phosphoglycerate. Oslund RC, et al. Nat Chem Biol, 2017 Oct. PMID 28805803, Free PMC Article

See all (152) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Circ-PGAM1 Enhances Matrine Resistance of Non-Small Cell Lung Cancer via the miR-326/CXCR5 Axis.
    Title: Circ-PGAM1 Enhances Matrine Resistance of Non-Small Cell Lung Cancer via the miR-326/CXCR5 Axis.
  2. Phosphoglycerate mutase 1 promotes breast cancer progression through inducing immunosuppressive M2 macrophages.
    Title: Phosphoglycerate mutase 1 promotes breast cancer progression through inducing immunosuppressive M2 macrophages.
  3. RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1.
    Title: RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1.
  4. PGAM1 Inhibition Promotes HCC Ferroptosis and Synergizes with Anti-PD-1 Immunotherapy.
    Title: PGAM1 Inhibition Promotes HCC Ferroptosis and Synergizes with Anti-PD-1 Immunotherapy.
  5. Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1.
    Title: Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1.
  6. MicroRNA-324-3p inhibits osteosarcoma progression by suppressing PGAM1-mediated aerobic glycolysis.
    Title: MicroRNA-324-3p inhibits osteosarcoma progression by suppressing PGAM1-mediated aerobic glycolysis.
  7. Matrine induces hepatocellular carcinoma apoptosis and represses EMT and stemness through microRNA-299-3p/PGAM1 axis.
    Title: Matrine induces hepatocellular carcinoma apoptosis and represses EMT and stemness through microRNA-299-3p/PGAM1 axis.
  8. PGAM1 Promotes Glycolytic Metabolism and Paclitaxel Resistance via Pyruvic Acid Production in Ovarian Cancer Cells.
    Title: PGAM1 Promotes Glycolytic Metabolism and Paclitaxel Resistance via Pyruvic Acid Production in Ovarian Cancer Cells.
  9. PGAM1 regulation of ASS1 contributes to the progression of breast cancer through the cAMP/AMPK/CEBPB pathway.
    Title: PGAM1 regulation of ASS1 contributes to the progression of breast cancer through the cAMP/AMPK/CEBPB pathway.
  10. Circ-PGAM1 promotes malignant progression of epithelial ovarian cancer through regulation of the miR-542-3p/CDC5L/PEAK1 pathway.
    Title: Circ-PGAM1 promotes malignant progression of epithelial ovarian cancer through regulation of the miR-542-3p/CDC5L/PEAK1 pathway.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables bisphosphoglycerate mutase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphoglycerate mutase activity EXP
Inferred from Experiment
more info
 PubMed 
enables phosphoglycerate mutase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphoglycerate mutase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phosphoglycerate mutase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in canonical glycolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in canonical glycolysis TAS
Traceable Author Statement
more info
  
involved_in gluconeogenesis TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
phosphoglycerate mutase 1
Names
BPG-dependent PGAM 1
epididymis secretory protein Li 35
phosphoglycerate mutase 1 (brain)
phosphoglycerate mutase A, nonmuscle form
phosphoglycerate mutase isozyme B
NP_001304008.1
NP_002620.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001317079.2 → NP_001304008.1  phosphoglycerate mutase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate first exon in place of the first exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK292216, AK315910, CA307301
    UniProtKB/TrEMBL
    B4DKL5
    Conserved Domains (1) summary
    cl11399
    Location:26 → 238
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

  2. NM_002629.4 → NP_002620.1  phosphoglycerate mutase 1 isoform 1

    See identical proteins and their annotated locations for NP_002620.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK292216, CA307301, DA270129
    Consensus CDS
    CCDS7458.1
    UniProtKB/Swiss-Prot
    P18669, Q9BWC0
    UniProtKB/TrEMBL
    Q0D2Q6, Q53G35, Q6FHK8, Q6FHU2, Q6P6D7
    Related
    ENSP00000359991.4, ENST00000334828.6
    Conserved Domains (1) summary
    PRK14115
    Location:4 → 253
    gpmA; 2,3-diphosphoglycerate-dependent phosphoglycerate mutase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    97426191..97433444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    98306372..98313625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P18669.2 GenPept UniProtKB/Swiss-Prot:P18669

Gene LinkOut

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