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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
    mouse all
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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)

    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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    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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