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PGAM1 Gene

protein-coding   GIFtS: 67
GCID: GC10P099176

Phosphoglycerate Mutase 1 (Brain)


(Previous symbol: PGAMA)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphoglycerate Mutase 1 (Brain)1 2     Epididymis Secretory Protein Li 352
PGAMA1 2 3     Phosphoglycerate Mutase 12
Phosphoglycerate Mutase Isozyme B2 3     Phosphoglycerate Mutase A, Nonmuscle Form2
PGAM-B2 3     EC 3.1.3.133
BPG-Dependent PGAM 12 3     EC 5.4.2.113
Nonmuscle Form1     EC 5.4.2.43
Phosphoglycerate Mutase A1     EC 5.4.2.18
HEL-S-352     

External Ids:    HGNC: 88881   Entrez Gene: 52232   Ensembl: ENSG000001713147   OMIM: 1722505   UniProtKB: P186693   

Export aliases for PGAM1 gene to outside databases

Previous GC identifers: GC10P098079 GC10P098419 GC10P099317 GC10P098850 GC10P092811


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PGAM1 Gene:
Phosphoglyceric acid mutase (EC 2.7.5.3) is widely distributed in mammalian tissues where it catalyzes the
reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway
(summary by Chen et al., 1974 (PubMed 4811757)).(supplied by OMIM, Nov 2010)

GeneCards Summary for PGAM1 Gene:
PGAM1 (phosphoglycerate mutase 1 (brain)) is a protein-coding gene. Diseases associated with PGAM1 include phosphoglycerate mutase deficiency, and corticobasal degeneration. GO annotations related to this gene include protein kinase binding and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is BPGM.

UniProtKB/Swiss-Prot: PGAM1_HUMAN, P18669
Function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction.
Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced
activity




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the PGAM1 gene promoter:
         RP58   FOXF2   AML1a   STAT5A   Tal-1beta   E47   SRY   c-Myb   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PGAM1 promoter sequence
   Search Chromatin IP Primers for PGAM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PGAM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q25.3   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q25.3

PGAM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PGAM1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P099176:  view genomic region     (about GC identifiers)

Start:
99,185,917 bp from pter      End:
99,193,198 bp from pter
Size:
7,282 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PGAM1_HUMAN, P18669 (See protein sequence)
Recommended Name: Phosphoglycerate mutase 1  
Size: 254 amino acids; 28804 Da
Subunit: Homodimer
5 PDB 3D structures from and Proteopedia for PGAM1:
1LJD (3D)        1YFK (3D)        1YJX (3D)        4GPI (3D)        4GPZ (3D)    
Secondary accessions: Q9BWC0

Explore the universe of human proteins at neXtProt for PGAM1: NX_P18669

Explore proteomics data for PGAM1 at MOPED

Post-translational modifications: 

  • Acetylated at Lys-253, Lys-253 and Lys-254 under high glucose condition. Acetylation increases catalytic activity.
    Under glucose restriction SIRT1 levels dramatically increase and it deacetylates the enzyme1
  • Ubiquitination2 at Lys5, Lys39, Lys100, Lys106, Lys138, Lys157, Lys195, Lys241
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PGAM1 (P18669) (see all 8)
     AHGNSLR  IWRRSYD  LVLIRHG  RAIRTLW 


    See PGAM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002620.1  
    ENSEMBL proteins: 
     ENSP00000359991  
    Reactome Protein details: P18669

    PGAM1 Human Recombinant Protein Products:

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    Novus Biologicals PGAM1 Lysate
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    PGAM1 Assay Products:

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    Cloud-Clone Corp. CLIAs for PGAM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001345 PG/BPGM_mutase_AS
     IPR005952 Phosphogly_mut1
     IPR013078 His_Pase_superF_clade-1

    Graphical View of Domain Structure for InterPro Entry P18669

    ProtoNet protein and cluster: P18669

    1 Blocks protein domain: IPB001345 Phosphoglycerate/bisphosphoglycerate mutase

    UniProtKB/Swiss-Prot: PGAM1_HUMAN, P18669
    Similarity: Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily


    PGAM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PGAM1_HUMAN, P18669
    Function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction.
    Can also catalyze the reaction of EC 5.4.2.4 (synthase) and EC 3.1.3.13 (phosphatase), but with a reduced
    activity
    Catalytic activity: 2-phospho-D-glycerate = 3-phospho-D-glycerate
    Catalytic activity: 3-phospho-D-glyceroyl phosphate = 2,3-bisphospho-D-glycerate
    Catalytic activity: 2,3-bisphospho-D-glycerate + H(2)O = 3-phospho-D-glycerate + phosphate

         Genatlas biochemistry entry for PGAM1:
    phosphoglycerate mutase 1,brain isoform,glycolysis,energy pathway

         Enzyme Numbers (IUBMB): EC 5.4.2.41 EC 3.1.3.131 EC 5.4.2.12 EC 5.4.2.111

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004082bisphosphoglycerate mutase activity IEA--
    GO:0004083bisphosphoglycerate 2-phosphatase activity IEA--
    GO:0004619phosphoglycerate mutase activity NAS2846554
    GO:0005515protein binding IPI--
    GO:0016868intramolecular transferase activity, phosphotransferases ----
         
    PGAM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Pgam1 (no phenotypes)

    PGAM1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PGAM1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PGAM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PGAM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PGAM1:
    hsa-mir-186-5p (MIRT045163), hsa-mir-324-5p (MIRT043104), hsa-mir-181d-5p (MIRT041171), hsa-mir-92b-3p (MIRT040566), hsa-mir-17-5p (MIRT050950), hsa-mir-93-5p (MIRT048748), hsa-mir-196a-5p (MIRT048150), hsa-mir-193b-3p (MIRT041592), hsa-mir-615-3p (MIRT040367), hsa-mir-589-5p (MIRT037788), hsa-mir-96-5p (MIRT048725), hsa-mir-484 (MIRT042373), hsa-mir-331-3p (MIRT043470)

    Block miRNA regulation of human, mouse, rat PGAM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PGAM1 (see all 18):
    hsa-miR-3673 hsa-miR-1321 hsa-miR-25 hsa-miR-483-3p hsa-miR-1184 hsa-miR-3148 hsa-miR-613 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidPGAM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PGAM1
    Predesigned siRNA for gene silencing in human, mouse, rat PGAM1

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PGAM1 (NM_002629)
    Sino Biological Human cDNA Clone for PGAM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PGAM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PGAM1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGAM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus2
    chloroplast1
    cytoskeleton1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA--

    PGAM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PGAM1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis / Gluconeogenesis0.46
    Glycolysis and Gluconeogenesis0.60
    Glycolysis0.40
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    4Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for PGAM1
        Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for PGAM1
        Glycolysis and gluconeogenesis (short map)

    1 BioSystems Pathway for PGAM1
        Glycolysis and Gluconeogenesis


    2 Reactome Pathways for PGAM1
        Gluconeogenesis
    Glycolysis


    5 Kegg Pathways  (Kegg details for PGAM1):
        Glycolysis / Gluconeogenesis
    Glycine, serine and threonine metabolism
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids


    PGAM1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PGAM1: 
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PGAM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PGAM1 (P186691, 2, 3 ENSP000003599914) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120041, 2, 3EBI-717905,EBI-358311 MINT-7995158 MINT-7995166 I2D: score=2 
    YWHAZP631042, 3, ENSP000003095034MINT-3318976 I2D: score=1 STRING: ENSP00000309503
    XRCC6P129563, ENSP000003522574I2D: score=4 STRING: ENSP00000352257
    DCTN1Q142033, ENSP000003547914I2D: score=3 STRING: ENSP00000354791
    PKP4Q995693, ENSP000003744094I2D: score=3 STRING: ENSP00000374409
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0006096glycolytic process TAS--
    GO:0006110regulation of glycolytic process IDA12189148

    PGAM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PGAM1

    4 HMDB Compounds for PGAM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    2,3-Diphosphoglyceric acid(2R)-2,3-bis(phosphonooxy)-Propanoic acid (see all 20)138-81-8--
    2-Phospho-D-glyceric acid2-Phospho-D-glycerate (see all 7)----
    2-Phosphoglyceric acid2-(dihydrogen phosphate)Glycerate (see all 16)2553-59-5--
    3-Phosphoglyceric acid3-(dihydrogen phosphate)Glycerate (see all 21)820-11-1--

    2 Novoseek inferred chemical compound relationships for PGAM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glyceraldehyde 3-phosphate 63.7 6 16342241 (1), 17522440 (1), 16097891 (1), 18329347 (1) (see all 6)
    manganese superoxide 57.1 1 16876904 (1)



    PGAM1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PGAM1 gene: 
    NM_002629.2  

    Unigene Cluster for PGAM1:

    Phosphoglycerate mutase 1 (brain)
    Hs.632918  [show with all ESTs]
    Unigene Representative Sequence: BF312409
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334828(uc001knh.3 uc010qov.2) ENST00000473929 ENST00000467867

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PGAM1 (see all 18):
    hsa-miR-3673 hsa-miR-1321 hsa-miR-25 hsa-miR-483-3p hsa-miR-1184 hsa-miR-3148 hsa-miR-613 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidPGAM1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: PGAM1 (NM_002629)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PGAM1
      QuantiFast Probe-based Assays in human, mouse, rat PGAM1

    Additional mRNA sequence: 

    AK223096.1 AK292216.1 AK293023.1 AK295991.1 AK296619.1 AK297491.1 AK312351.1 AK315910.1 
    AY007118.1 BC000455.1 BC010038.1 BC011678.2 BC053356.1 BC062302.1 BC066959.1 BC073742.1 
    BC157873.1 CR541659.1 CR541744.1 J04173.1 

    Selected DOTS entries (see all 85):

    DT.97857622  DT.100890663  DT.99989838  DT.100890648  DT.91966784  DT.95252793  DT.100890671  DT.100890609 
    DT.92470381  DT.100890656  DT.100890627  DT.92470332  DT.121182991  DT.121182901  DT.100890649  DT.121182761 
    DT.95252810  DT.100890674  DT.95252772  DT.100890684  DT.121183014  DT.100890619  DT.100731274  DT.100890622 

    Selected AceView cDNA sequences (see all 2078):

    BM907371 AI318051 AA365914 BE263547 BE741632 BU149370 BE465624 AA442270 
    BE742527 CR597136 BM453376 CR611819 BU186783 BU184799 CR621854 CR595299 
    AI524302 BM764207 BI333686 BU849412 BQ057505 BF725189 BU169661 BQ649245 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PGAM1 expression in normal human tissues (normalized intensities)      PGAM1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTCCAGTGT
    PGAM1 Expression
    About this image


    PGAM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
    PGAM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PGAM1 Protein Expression

    Genevestigator expression for PGAM1

    SOURCE GeneReport for Unigene cluster: Hs.632918

    UniProtKB/Swiss-Prot: PGAM1_HUMAN, P18669
    Tissue specificity: In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in
    muscles and type-B in other tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including PGAM1: 
              Hypoxia Signaling Pathway in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PGAM1
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    QuantiFast Probe-based Assays in human, mouse, rat PGAM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PGAM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PGAM1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pgam11 , 5 phosphoglycerate mutase 11, 5 90.94(n)1
    99.61(a)1
      19 (35.44 cM)5
    186481  NM_023418.21  NP_075907.21 
     419118715 
    chicken
    (Gallus gallus)
    Aves PGAM11 phosphoglycerate mutase 1 (brain) 82.15(n)
    92.91(a)
      428969  NM_001031556.1  NP_001026727.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    93(a)
    1 → many
    GL343810.1(92914-98909)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF548746.12   -- 79.54(n)    CF548746.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.271232 Danio rerio phosphoglycerate mutase 1 (brain) (PGAM1) more 91.27(n)    AY391448.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pglym781 , 3 phosphoglycerate mutase3
    Phosphoglyceromutase1
    68(a)
    (best of 3)3
    68.93(n)1
    68.8(a)1
      434471  NM_001038986.21  NP_001034075.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YOR283W)4 Phosphatase with a broad substrate specificity and more   --   15(847453-848145) 854457  NP_014926.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G221701 AT1G22170 50.54(n)
    47.83(a)
      838822  NM_102067.2  NP_564161.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g07518001 Os02g0751800 51.81(n)
    47.83(a)
      4330747  NM_001054672.1  NP_001048137.1 


    ENSEMBL Gene Tree for PGAM1 (if available)
    TreeFam Gene Tree for PGAM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PGAM1 gene
    BPGM2  PGAM22  PGAM42  
    3 SIMAP similar genes for PGAM1 using alignment to 5 protein entries:     PGAM1_HUMAN (see all proteins):
    PGAM4    PGAM2    BPGM

    PGAM1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for PGAM1 (see all 17)
    PGOHUM00000242329 PGOHUM00000242425 PGOHUM00000239900 PGOHUM00000248614 PGOHUM00000248270


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PGAM1 (see all 209)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1125543211,2
    F--99184144(+) CAGTAG/CGTGCT 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1906051431,2
    --99184166(+) TGATCA/GCCGCT 1 -- us2k10--------
    rs1821649511,2
    --99184168(+) ATCGCC/TGCTCA 1 -- us2k10--------
    rs1851994131,2
    --99184249(+) ATGCCC/TGGCTA 1 -- us2k10--------
    rs1156129411,2
    F--99184477(+) GTCCAC/TTGCCT 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1451617301,2
    --99184579(+) GCTGTG/TAAGTT 1 -- us2k10--------
    rs1907950901,2
    --99184655(+) TCTACA/GGAAAA 1 -- us2k10--------
    rs2004373651,2
    C--99184821(+) GGAAA-/CTCTGTT 1 -- us2k10--------
    rs1388289651,2
    C--99185024(+) GGGAGA/GCTGAG 1 -- us2k10--------
    rs1833498341,2
    --99185074(+) TGAGCC/GGAGAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PGAM1 (99185917 - 99193198 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PGAM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv467440CNV Loss19166990

    Human Gene Mutation Database (HGMD): PGAM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PGAM1
    DNA2.0 Custom Variant and Variant Library Synthesis for PGAM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 172250    OMIM disorders: --

    Selected diseases for PGAM1 (see all 27):    About MalaCards
    phosphoglycerate mutase deficiency    corticobasal degeneration    central nervous system disease    glycogen storage disease v
    nervous system disease    menkes disease    glycogen storage disease    autoimmune hepatitis
    oral squamous cell carcinoma    hepatitis c virus    hepatitis c    pneumonia
    hepatitis    squamous cell carcinoma    schizophrenia    neuroblastoma
    hypoxia    alzheimer's disease    tuberculosis    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for PGAM1:
    Glycogen storage disease

    PGAM1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for PGAM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0.799 4 17094902 (1), 16200062 (1), 17579775 (1)
    tumors 0 2 11745460 (2)


    Export disorders for PGAM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PGAM1 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with PGAM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family. (PubMed id 2846553)1, 2, 3 Sakoda S.... Schon E.A. (J. Biol. Chem. 1988)
    2. Regulation of glycolytic enzyme phosphoglycerate mutase-1 by Sirt1 protein-mediated deacetylation. (PubMed id 22157007)1, 2 Hallows W.C.... Denu J.M. (J. Biol. Chem. 2012)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Two-dimensional electrophoretic analysis of human breast carcinoma proteins: mapping of proteins that bind to the SH3 domain of mixed lineage kinase MLK2. (PubMed id 9150946)1, 2 Rasmussen R.K.... Dorow D.S. (Electrophoresis 1997)
    5. Sequence of the human erythrocyte phosphoglycerate mutase by microsequencer and mass spectrometry. (PubMed id 2846554)1, 2 Blouquit Y.... Rosa J. (J. Biol. Chem. 1988)
    6. Quantitative proteomics identification of phosphoglycerate mutase 1 as a novel therapeutic target in hepatocellular carcinoma. (PubMed id 20403181)1, 9 Ren F....Huang C. (Mol. Cancer 2010)
    7. A p21-activated kinase-controlled metabolic switch up-regulates phagocyte NADPH oxidase. (PubMed id 12189148)1, 9 Shalom-Barak T. and Knaus U.G. (J. Biol. Chem. 2002)
    8. Redox proteomic analysis of carbonylated brain proteins in mild cognitive impairment and early Alzheimer's disease. (PubMed id 19686046)1, 9 Sultana R....Butterfield D.A. (amp 2010)
    9. Solubility-based genetic screen identifies RING finger protein 126 as an E3 ligase for activation-induced cytidine deaminase. (PubMed id 23277564)1 Delker R.K....Papavasiliou F.N. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
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    Entrez Gene: 5223 HGNC: 8888 AceView: PGAM1 Ensembl:ENSG00000171314 euGenes: HUgn5223
    ECgene: PGAM1 Kegg: 5223 H-InvDB: PGAM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PGAM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PGAM1 gene:
    Search GeneIP for patents involving PGAM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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