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    BPGM bisphosphoglycerate mutase [ Homo sapiens (human) ]

    Gene ID: 669, updated on 8-Jul-2021

    Summary

    Official Symbol
    BPGMprovided by HGNC
    Official Full Name
    bisphosphoglycerate mutaseprovided by HGNC
    Primary source
    HGNC:HGNC:1093
    See related
    Ensembl:ENSG00000172331 MIM:613896
    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
    DPGM; ECYT8
    Summary
    2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
    Expression
    Broad expression in bone marrow (RPKM 22.0), placenta (RPKM 21.2) and 24 other tissues See more
    Orthologs
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    Genomic context

    See BPGM in Genome Data Viewer
    Location:
    7q33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (134646853..134679816)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (134331605..134364568)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375520 Neighboring gene aldo-keto reductase family 1 member B15 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4787 Neighboring gene uncharacterized LOC107986850 Neighboring gene tubulin beta 3 class III pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bisphosphoglycerate mutase activity TAS
    Traceable Author Statement
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoglycerate mutase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate derivative catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in carbohydrate metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in erythrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory gaseous exchange by respiratory system TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    bisphosphoglycerate mutase
    Names
    2,3-bisphosphoglycerate mutase, erythrocyte
    2,3-bisphosphoglycerate synthase
    2,3-diphosphoglycerate mutase
    BPG-dependent PGAM
    erythrocyte 2,3-bisphosphoglycerate mutase
    testis secretory sperm-binding protein Li 202a
    NP_001280014.1
    NP_001715.1
    NP_954655.1
    XP_011514829.1

    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.

    Genomic

    1. NG_012921.1 RefSeqGene

      Range
      5001..38038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001293085.2NP_001280014.1  bisphosphoglycerate mutase

      See identical proteins and their annotated locations for NP_001280014.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      BC017050, BU608668, DA701935
      Consensus CDS
      CCDS5833.1
      UniProtKB/Swiss-Prot
      P07738
      UniProtKB/TrEMBL
      A0A024R782
      Related
      ENSP00000399838.1, ENST00000418040.5
      Conserved Domains (1) summary
      cl11399
      Location:4255
      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_001724.5NP_001715.1  bisphosphoglycerate mutase

      See identical proteins and their annotated locations for NP_001715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      BC017050, BU608668
      Consensus CDS
      CCDS5833.1
      UniProtKB/Swiss-Prot
      P07738
      UniProtKB/TrEMBL
      A0A024R782
      Related
      ENSP00000342032.3, ENST00000344924.8
      Conserved Domains (1) summary
      cl11399
      Location:4255
      HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
    3. NM_199186.3NP_954655.1  bisphosphoglycerate mutase

      See identical proteins and their annotated locations for NP_954655.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      BC017050, BU608668, DB049554
      Consensus CDS
      CCDS5833.1
      UniProtKB/Swiss-Prot
      P07738
      UniProtKB/TrEMBL
      A0A024R782
      Related
      ENSP00000376840.2, ENST00000393132.2
      Conserved Domains (1) summary
      cl11399
      Location:4255
      HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      134646853..134679816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516527.2XP_011514829.1  bisphosphoglycerate mutase isoform X1

      See identical proteins and their annotated locations for XP_011514829.1

      UniProtKB/Swiss-Prot
      P07738
      UniProtKB/TrEMBL
      A0A024R782
      Conserved Domains (1) summary
      cl11399
      Location:4255
      HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
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