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BPGM Gene

protein-coding   GIFtS: 62

GC07P133982
2,3-bisphosphoglycerate mutase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
EC 5.4.2.4,EC 5.4.2.1,EC 3.1.3.13 3
Descriptions
2,3-bisphosphoglycerate mutase 2
2,3-bisphosphoglycerate mutase, erythrocyte 3
2,3-bisphosphoglycerate synthase 3
BPG-dependent PGAM 3
bisphosphoglycerate mutase 2
External Ids
HGNC: 10931
Entrez Gene: 6692
UniProtKB: P077383
Ensembl: ENSG000001723317
Search outside databases for aliases for BPGM gene

Previous GC identifers: GC07P132674 GC07P133733 GC07P133747 GC07P133788

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738
Function: Plays a major role in regulating hemoglobin oxygen affinity as a consequence of
controlling 2,3-BPG concentration. Can also catalyze the reaction of EC 5.4.2.1 (mutase) and EC
3.1.3.13 (phosphatase), but with a reduced activity

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the BPGM gene  

Entrez Gene cytogenetic band: 7q31-q34   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q31-q34

BPGM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P133982:     (about GC identifiers)

Start:
133,982,095 bp from pter
End:
134,015,108 bp from pter
Size:
33,014 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 133,675,873-133,708,886     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738 (See protein sequence)
Recommended Name: Bisphosphoglycerate mutase  
Size: 259 amino acids; 30005 Da
Subunit: Homodimer
PDB structures from and Proteopedia :
1T8P (3D)    2A9J (3D)    2F90 (3D)    2H4X (3D)    2H4Z (3D)    2H52 (3D)    2HHJ (3D)    

Post-translational modifications:

  • Glycation of Lys-159 in diabetic patients inactivates the enzyme1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001715.1  NP_954655.1  


    ENSEMBL proteins: 
    ENSP00000376840 ENSP00000342032 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Human Recombinant Proteins from Abnova (BPGM)
                  OriGene Purified Recombinant Human Protein: BPGM 


    Antibodies for BPGM: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for BPGM
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for BPGM

    Assays for BPGM: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR001345 PG/BPGM_mutase
     IPR013078 PG_mutase
     IPR005952 Phosphogly_mut1


       GeneDecks  BPGM for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P07738

    ProtoNet protein and cluster: P07738

    1 Blocks protein family: IPB001345 Phosphoglycerate/bisphosphoglycerate mutase

    UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738
    Similarity: Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BPGM)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_199186

                  Applied Biosystems Silencer® siRNAs for BPGM

                  Sigma-Aldrich siRNA and siRNA Panels for BPGM  
                         Sigma-Aldrich shRNA for BPGM  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for BPGM
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001724
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001724
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001724 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_199186

    UniProtKB/Swiss-Prot: PMGE_HUMAN, P07738
    Function: Plays a major role in regulating hemoglobin oxygen affinity as a consequence of
    controlling 2,3-BPG concentration. Can also catalyze the reaction of EC 5.4.2.1 (mutase) and EC
    3.1.3.13 (phosphatase), but with a reduced activity
    Catalytic activity: 3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate
    Catalytic activity: 2-phospho-D-glycerate = 3-phospho-D-glycerate
    Catalytic activity: 2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate
    Enzyme Number (IUBMB): EC 5.4.2.4,EC 

    Genatlas biochemistry entry for BPGM:
    2,3-bisphosphoglycerate mutase,glycolysis,energy pathway,Rapoport-Luebering shunt,major regulation
    of biphosphoglycerate concentration in erythrocyte

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004082 bisphosphoglycerate mutase activity TAS2542247
    GO:0004083 bisphosphoglycerate 2-phosphatase activity IEA--
    GO:0004619 phosphoglycerate mutase activity IEA--
    GO:0016787 hydrolase activity IEA--
    GO:0016853 isomerase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for BPGM (Maps provided by GeneGo):
     Glycolysis and gluconeogenesis

       GeneDecks  BPGM for the pathways selected above  
    About GeneDecksing

    1 Millipore Pathway for BPGM
     Glycolysis and gluconeogenesis (short map)

       GeneDecks  BPGM for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  BPGM  (Your Favorite Gene powered by Ingenuity) 
     Glycolysis/Gluconeogenesis

       GeneDecks  BPGM for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for BPGM):
     hsa00010 Glycolysis / Gluconeogenesis

       GeneDecks  BPGM for the pathways selected above  
    About GeneDecksing

    5/14 Interacting proteins for BPGM (ENSP000003420323) via UniProtKB, MINT, and/or STRING (see all 14 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAPDHL6ENSP000002292393STRING (score=.965)
    PGK1ENSP000003624133STRING (score=.96)
    ENO2ENSP000002292773STRING (score=.915)
    ENO3ENSP000003241053STRING (score=.915)
    PGAM2ENSP000002972833STRING (score=.907)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975 carbohydrate metabolic process NAS2542247
    GO:0006096 glycolysis IEA--
    GO:0007585 respiratory gaseous exchange TAS2542247
    GO:0008152 metabolic process IEA--
    GO:0048821 erythrocyte development IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for BPGM
    6 Novoseek chemical compound relationships for BPGM gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    23-diphosphoglycerate 93.07 17 9832630 (3), 18413611 (3), 15258155 (1), 2145041 (1) (see all 9)
    3-phosphoglycerate 82.47 3 9099261 (1), 8170953 (1)
    phosphoglycolate 81.20 4 9162026 (3), 9099261 (1)
    pyruvate 37.64 1 15048986 (1)
    histidine 24.84 1 17052986 (1)
    oxygen 0.00 1 9832630 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (BPGM)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_199186

                  Sigma-Aldrich siRNA and siRNA Panels for BPGM  
                         Sigma-Aldrich shRNA for BPGM  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001724  NM_199186  

    REFSEQ mRNAs for BPGM gene (2 alternative transcripts): 

    NM_001724.4   NM_199186.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001724  NM_199186  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001724
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001724
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_001724 

    Additional cDNA sequence: AB209044.1 

    21 DOTS entries:

    DT.101977428  DT.315226  DT.100808810  DT.75103877  DT.100808817  DT.95289926  DT.100808820  DT.100808807 
    DT.100808813  DT.100835729  DT.40194658  DT.40116900  DT.100766481  DT.100734968  DT.121061130  DT.92448520 
    DT.100776864  DT.121060684  DT.92448521  DT.95139112  DT.100662314 

    24/338 AceView cDNA sequences (see all 338 ):

    BP371617 CR625693 BU664976 BU752747 AU139082 AI580517 CR598794 CR626310 
    CR620521 AU138182 BQ918034 AU134644 BC017050 CR619111 BI753556 AI471846 
    AI174941 AU137396 CR602739 BU663168 AW026124 CR606892 BM722735 AU138641 

    highest scoring ESTs for BPGM:

    X04327 AA091699 AA804586 AI042601 AI204516 AI208731 AI249518 AI300761 AI307744 AI347766 

    Unigene Clusters for BPGM:

    2,3-bisphosphoglycerate mutase
    Hs.198365  [show with all ESTs], Hs.719267  [show with all ESTs]
    Unigene Representative Sequences: NM_199186, BX427126


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BPGM

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7
    SP1:              -     -     -                                             
    SP2:                    -     -                                             
    SP3:              -           -                                             
    SP4:              -     -     -                                             
    SP5:                                                                        

    About this scheme

    ECgene alternative splicing isoforms for BPGM

    2 Ensembl transcripts including schematic representations:
    ENST00000393132  ENST00000344924  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    BPGM expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for BPGM

    1 / 2 / 3

    3 probe-sets matching BPGM gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    33759_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X04327 1.00 1.00 1.00 1

    203502_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001724 0.60 1.00 0.82 1

    203502_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  BPGM for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GAAATAGCAG

    SOURCE GeneReport for Unigene clusters: Hs.198365 Hs.719267

    Expression variation in blood from EXPOLDB for BPGM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for BPGM gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    BPGM1   -- 2,3-bisphosphoglycerate mutase 91.15(n)
    94.92(a)
    482704  XM_539820.2  XP_539820.1 
    chimpanzee
    (Pan troglodytes)
    BPGM1   -- 2,3-bisphosphoglycerate mutase 99.36(n)
    99.23(a)
    463746  XM_519396.2  XP_519396.2 
    cow
    (Bos taurus)
    BPGM1   -- 2,3-bisphosphoglycerate mutase 89.58(n)
    93.82(a)
    533785  NM_001035402.1  NP_001030479.1 
    rat
    (Rattus norvegicus)
    Bpgm1   -- 2,3-bisphosphoglycerate mutase 85.92(n)
    91.09(a)
    296973  NM_199382.1  NP_955414.1 
    mouse
    (Mus musculus)
    Bpgm1, 5 65
    2,3-bisphosphoglycerate mutase1, 5 87.39(n)1
    92.28(a)1
    121831  NM_007563.31  NP_031589.11 
     AI3237305  AK0063155  (see all 19)
    About this table        Species with no ortholog for BPGM

    ENSEMBL Gene Tree for BPGM
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for BPGM gene
    PGAM12  PGAM22  ENSG000002205152  PGAM42  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/227 NCBI SNPs in BPGM are shown (see all 227 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 125)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs14691661,2
    A,C,F,H,O133981965(+) AGAGTG/AAACCA 2 -- ng51 tfbs312Minor allele frequency- A:0.31NA EA MN EU WA 1171
    rs14691651,2
    A,C,F,H,O133980707(+) GACTGC/TCACTT 2 -- ng5114Minor allele frequency- T:0.31NA EA EU WA 1158
    rs37574011,2
    A,C,F,H133981299(+) CAAGAT/GTTCTG 2 -- ng5114Minor allele frequency- G:0.38EA NA MN EU WA 2820
    rs64675421,2
    A,C,F,H133981668(+) GCTTCT/CTCTGG 2 -- ng514Minor allele frequency- C:0.03EU EA WA 418
    rs104354191,2
    A,C,F,H133980899(+) AGTTAA/CTCTTG 2 -- ng51 tfbs312Minor allele frequency- C:0.04NS NA EU EA WA 666
    rs38006911,2
    C,F,H133993867(+) ACAGCG/ATTGTG 2 -- int1 ut514Minor allele frequency- A:0.17EU EA WA 416
    rs102493341,2
    A,F,H134015217(+) ACAGAC/TACTCA 2 -- ng314Minor allele frequency- T:0.42EU EA WA 402
    rs172007001,2
    C,F,H134015537(+) TAAAAC/TATTTG 2 -- ng3111Minor allele frequency- T:0.08NA EU EA WA 974
    rs37574001,2
    C,F,H133981235(+) CACTAC/TTTAGG 2 -- ng519Minor allele frequency- T:0.11EA EU WA 2330
    rs28817031,2
    F,H,O133981876(+) TAGGGT/AGTGTT 2 -- ng519Minor allele frequency- A:0.11NS EU EA WA 498
    About this table

    HapMap Linkage Disequilibrium images for BPGM (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 222800

    Genatlas disease: BPGM
    erythrocytosis

    Human Gene Mutation Database: BPGM

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/40 PubMed articles for BPGM gene (see all 40 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 669 HGNC: 1093 AceView: BPGM Ensembl:ENSG00000172331 euGenes: HUgn669
    ECgene: BPGM H-InvDB: BPGM
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for BPGM:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for BPGM Antibodies for BPGM
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
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     Search Tocris compounds for BPGM




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     Antibodies for BPGM

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