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    BPGM bisphosphoglycerate mutase [ Homo sapiens (human) ]

    Gene ID: 669, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BPGMprovided by HGNC
    Official Full Name
    bisphosphoglycerate mutaseprovided by HGNC
    Primary source
    HGNC:HGNC:1093
    See related
    Ensembl:ENSG00000172331 MIM:613896; AllianceGenome:HGNC:1093
    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

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    See BPGM in Genome Data Viewer
    Location:
    7q33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (134646853..134679816)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (135954938..135987472)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 26690 Neighboring gene aldo-keto reductase family 1 member B10 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:134247191-134248390 Neighboring gene aldo-keto reductase family 1 member B15 Neighboring gene uncharacterized LOC124901750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26691 Neighboring gene CRISPRi-validated cis-regulatory element chr7.4787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26693 Neighboring gene Sharpr-MPRA regulatory region 13526 Neighboring gene Sharpr-MPRA regulatory region 7726 Neighboring gene Sharpr-MPRA regulatory region 6861 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:134388514-134388724 Neighboring gene uncharacterized LOC124901751 Neighboring gene tubulin beta 3 class III pseudogene 2

    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. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review. van Dijk MJ, et al. Br J Haematol, 2023 Jan. PMID 36177683, Free PMC Article
    2. The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes. Rosa R, et al. J Clin Invest, 1978 Nov. PMID 152321, Free PMC Article
    3. Immunocytochemical localization of glycolytic and fermentative enzymes in Zymomonas mobilis. Aldrich HC, et al. J Bacteriol, 1992 Jul. PMID 1320611, Free PMC Article
    4. Structural modeling of the human erythrocyte bisphosphoglycerate mutase. Craescu CT, et al. Biochimie, 1992 Jun. PMID 1387804
    5. Chromosomal assignment of the human 2,3-bisphosphoglycerate mutase gene (BPGM) to region 7q34----7q22. Barichard F, et al. Hum Genet, 1987 Nov. PMID 2824335

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
      Title: Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
    2. Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.
      Title: Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.
    3. 1.94 A resolution X-ray structure of bisphosphoglycerate mutase is presented, focusing on the dynamic nature of key ligand-binding residues and their interaction with the inhibitor citrate
      Title: Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding.
    4. bisphosphoglycerate mutase crystallographic structure
      Title: Crystal structure of human bisphosphoglycerate mutase.
    5. analysis of histidine phosphorylation in human bisphosphoglycerate mutase
      Title: Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Deficiency of bisphosphoglycerate mutase
    MedGen: C1291620 OMIM: 222800 GeneReviews: Not available
    		Compare labs

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables bisphosphoglycerate mutase activity TAS
    Traceable Author Statement
    more info
    		  
    enables hydrolase 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 cellular response to stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in erythrocyte development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of blood-brain barrier IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuroinflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oxygen transport 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

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    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
    XP_047276717.1
    XP_054214843.1
    XP_054214844.1

    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
      5075..38038
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001293085.2 → NP_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
      A4D1N9, P07738
      UniProtKB/TrEMBL
      A0A024R782, B3KUR3
      Related
      ENSP00000399838.1, ENST00000418040.5
      Conserved Domains (1) summary
      cl11399
      Location:4 → 255
      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_001724.5 → NP_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
      A4D1N9, P07738
      UniProtKB/TrEMBL
      A0A024R782, B3KUR3
      Related
      ENSP00000342032.3, ENST00000344924.8
      Conserved Domains (1) summary
      cl11399
      Location:4 → 255
      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_199186.3 → NP_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
      A4D1N9, P07738
      UniProtKB/TrEMBL
      A0A024R782, B3KUR3
      Related
      ENSP00000376840.2, ENST00000393132.2
      Conserved Domains (1) summary
      cl11399
      Location:4 → 255
      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: 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_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047420761.1 → XP_047276717.1  bisphosphoglycerate mutase isoform X1

      UniProtKB/Swiss-Prot
      A4D1N9, P07738
      UniProtKB/TrEMBL
      A0A024R782

    2. XM_011516527.3 → XP_011514829.1  bisphosphoglycerate mutase isoform X1

      See identical proteins and their annotated locations for XP_011514829.1

      UniProtKB/Swiss-Prot
      A4D1N9, P07738
      UniProtKB/TrEMBL
      A0A024R782, B3KUR3
      Conserved Domains (1) summary
      cl11399
      Location:4 → 255
      HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      135954938..135987472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358869.1 → XP_054214844.1  bisphosphoglycerate mutase isoform X1

      UniProtKB/Swiss-Prot
      A4D1N9, P07738
      UniProtKB/TrEMBL
      A0A024R782

    2. XM_054358868.1 → XP_054214843.1  bisphosphoglycerate mutase isoform X1

      UniProtKB/Swiss-Prot
      A4D1N9, P07738
      UniProtKB/TrEMBL
      A0A024R782
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07738.2 GenPept UniProtKB/Swiss-Prot:P07738

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