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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PGAM1 Gene

protein-coding   GIFtS: 63
GCID: GC10P099176

phosphoglycerate mutase 1 (brain)


(Previous symbol: PGAMA)
 Explore 29 diseases affiliated with
PGAM1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PGAM1    

Aliases
for PGAM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phosphoglycerate Mutase 1 (Brain)1 2     EC 5.4.2.13 8
PGAM-B1 2 3     Phosphoglycerate Mutase 12
PGAMA1 2 3     Phosphoglycerate Mutase A, Nonmuscle Form2
Phosphoglycerate Mutase Isozyme B2 3     EC 3.1.3.133
BPG-Dependent PGAM 12 3     EC 5.4.2.43

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


Summaries
for PGAM1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PGAM1:
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)

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




Genomic Views
for PGAM1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PGAM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PGAM1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PGAM1_HUMAN, P18669 (See protein sequence)
Recommended Name: Phosphoglycerate mutase 1  
Size: 254 amino acids; 28804 Da
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for PGAM1:
1LJD (3D)        1YFK (3D)        1YJX (3D)    
Secondary accessions: Q9BWC0

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P18669

    • 4/8 DME Specific Peptides for PGAM1 (P18669) (see all 8)
     AHGNSLR  IWRRSYD  LVLIRHG  RAIRTLW 

    PGAM1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002620.1  
    ENSEMBL proteins: 
     ENSP00000359991  
    Reactome Protein details: P18669
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for PGAM1
    Uscn Proteins for PGAM1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--


    PGAM1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PGAM1

    Protein Domains /
    Families
    for PGAM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PGAM1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB001345 Phosphoglycerate/bisphosphoglycerate mutase

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


    Function
    for PGAM1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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 5.4.2.11 2 EC 5.4.2.41 EC 3.1.3.131

    miRNA
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    8/18 QIAGEN miScript miRNA 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 plasmid: PGAM1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PGAM1 (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PGAM1

    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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:0019901protein kinase binding IPI12189148


    PGAM1 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI phenotypic allele for Pgam1 (no phenotypes)

    PGAM1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PGAM1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)1.00
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis and gluconeogenesis (short map)0.97
    		Glycolysis / Gluconeogenesis0.41
    2Glucose metabolism
    		Glucose metabolism1.00
    		Glycolysis0.44
    		Gluconeogenesis0.50
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    5MPS IIIC - Sanfilippo syndrome C
    		Metabolism of carbohydrates0.47

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for PGAM1
        Glycolysis and gluconeogenesis (short map)


    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

    5        Reactome Pathways for PGAM1
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Glycolysis


    2         Kegg Pathways  (Kegg details for PGAM1):
        Glycolysis / Gluconeogenesis
    Metabolic pathways


    PGAM1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PGAM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/16 Interacting proteins for PGAM1 (P186692, 3 ENSP000003599914) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120042, 3MINT-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): 5/8 biological process terms (GO ID links to tree view) (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:0006096glycolysis TAS--
    GO:0006110regulation of glycolysis IDA12189148


    PGAM1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PGAM1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PGAM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about PGAM1 

    Transcripts
    for PGAM1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334828(uc001knh.3 uc010qov.2) ENST00000473929 ENST00000469305
    ENST00000467867

    miRNA
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    8/18 QIAGEN miScript miRNA 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 plasmid: PGAM1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PGAM1 (see all 7)
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    Clone
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    Primer
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    Additional cDNA 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 

    24/76 DOTS entries (see all 76):

    DT.97857622  DT.99989838  DT.100890663  DT.100890648  DT.91966784  DT.95252793  DT.100890671  DT.100890609 
    DT.100890656  DT.92470381  DT.100890627  DT.92470332  DT.121182991  DT.121182901  DT.121182761  DT.95252810 
    DT.100890649  DT.100890674  DT.100890684  DT.95252772  DT.121183014  DT.100890619  DT.100890655  DT.100890661 

    24/2078 AceView cDNA sequences (see all 2078):

    BE391665 AI318051 CR608546 BG258562 BQ716786 N42963 BM989534 CA440921 
    AI420356 BG748665 BM844918 R91433 BQ215531 AI815897 F09685 BQ957022 
    BM766489 BU507877 BM460033 BU855621 BG282083 CB215538 BQ059051 BU501820 

    GeneLoc Exon Structure


    Expression
    for PGAM1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PGAM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTCCAGTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PGAM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephrosKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PGAM1 Protein Expression from SPIRE MOPED and PaxDB
    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

        SABiosciences Expression via Pathway-Focused PCR Array including PGAM1: 
              Hypoxia Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for PGAM1 gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for PGAM1 gene from 9/30 species (see all 30)    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 --
    BPGM6
    		 --
    		 94(a)
    53(a)
    		 many → 1
    possible ortholog
    		 GL343810.1(92914-98724)
    5(14479691-14487736)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PGM6
    AT1G221706
    		 phosphoglycerate mutase-like protein
    		 27(a)
    27(a)
    		 possible ortholog
    possible ortholog
    		 1(29347581-29349755)
    1(7826289-7828326)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 phosphoglycerate mutase, putative, expressed
    		 39(a)
    28(a)
    		 possible ortholog
    possible ortholog
    		 6(6368183-6369695)
    2(31591755-31594771)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria gpmA6
    		 phosphoglyceromutase 1
    		 58(a)
    		 1 → many
    		 Chromosome(786066-786818)


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

    Paralogs
    for PGAM1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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


    5/17 Pseudogenes.org Pseudogenes for PGAM1 (see all 17)
    PGOHUM00000242329 PGOHUM00000242425 PGOHUM00000239900 PGOHUM00000248614 PGOHUM00000248270


    Genomic Variants
    for PGAM1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/162 NCBI SNPs in PGAM1 are shown (see all 162)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1125543211,2
    		--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
    		--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
    		--99184821(+) GGAAA-/CTCTGTT 1 -- us2k10--------
    rs1388289651,2
    		--99185024(+) GGGAGA/GCTGAG 1 -- us2k10--------
    rs1833498341,2
    		--99185074(+) TGAGCC/GGAGAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PGAM1 (99185917 - 99193198 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PGAM1: --
    Human Gene Mutation Database (HGMD): PGAM1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PGAM1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PGAM1 for disorders           About GeneDecksing

    OMIM gene information: 172250    OMIM disorders: --

    20/29 diseases for PGAM1 (see all 29):    About MalaCards
    phosphoglycerate mutase deficiency    glycogen storage disease v    central nervous system disease    nervous system disease
    glycogen storage disease    corticobasal degeneration    oral squamous cell carcinoma    squamous cell carcinoma
    menkes disease    cramps    autoimmune hepatitis    hepatitis c
    hepatocellular carcinoma    alzheimer's disease    carcinoma    hepatitis
    breast carcinoma    colorectal cancer    lung cancer    prostate cancer

    2 Novoseek 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

    Publications
    for PGAM1 gene

    (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)
    About This Section

    PubMed articles for PGAM1 gene, integrated from 9 sources (see all 72):
    (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. (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. (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. (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. (1997)
    5. Sequence of the human erythrocyte phosphoglycerate mutase by microsequencer and mass spectrometry. (PubMed id 2846554)1, 2 Blouquit Y.... Rosa J. (1988)
    6. Quantitative proteomics identification of phosphoglyc erate mutase 1 as a novel therapeutic target in hepatocellular carcinoma. (PubMed id 20403181)1, 9 Ren F....Huang C. (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. (2002)
    8. Redox proteomic analysis of carbonylated brain protei ns in mild cognitive impairment and early Alzheimer's disease. (PubMed id 19686046)1, 9 Sultana R....Butterfield D.A. (2010)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Phosphoglycerate mutase 1 coordinates glycolysis and b iosynthesis to promote tumor growth. (PubMed id 23153533)1 Hitosugi T....Chen J. (2012)

    External Searches for PGAM1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PGAM1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5223 HGNC: 8888 AceView: PGAM1 Ensembl:ENSG00000171314 euGenes: HUgn5223
    ECgene: PGAM1 Kegg: 5223 H-InvDB: PGAM1

    Other Databases showing PGAM1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PGAM1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PGAM1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PGAM1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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