Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    PGK1 phosphoglycerate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 5230, updated on 9-Jul-2017
    Official Symbol
    PGK1provided by HGNC
    Official Full Name
    phosphoglycerate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:8896
    See related
    Ensembl:ENSG00000102144 MIM:311800; Vega:OTTHUMG00000021888
    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
    PGKA; MIG10; HEL-S-68p
    Summary
    The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]
    Orthologs
    Location:
    Xq21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (78104169..78126827)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (77359666..77382324)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATPase copper transporting alpha Neighboring gene chromosome 4 open reading frame 46 pseudogene Neighboring gene phosphoglycerate mutase family member 4 Neighboring gene TATA-box binding protein associated factor 9b Neighboring gene fibronectin type III domain containing 3C, pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Phosphoglycerate kinase 1 deficiency
    MedGen: C1970848 OMIM: 300653 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-06-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-06-28)

    ClinGen Genome Curation PagePubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat upregulates the abundance of phosphoglycerate kinase 1 (PGK1) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC8947, MGC117307, MGC142128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphoglycerate kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    phosphoglycerate kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphoglycerate kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-disulfide reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    canonical glycolysis TAS
    Traceable Author Statement
    more info
     
    cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    glycolytic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasminogen activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    phosphoglycerate kinase 1
    Names
    PRP 2
    cell migration-inducing gene 10 protein
    epididymis secretory sperm binding protein Li 68p
    primer recognition protein 2
    NP_000282.1

    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_008862.1 RefSeqGene

      Range
      5001..27659
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000291.3NP_000282.1  phosphoglycerate kinase 1

      See identical proteins and their annotated locations for NP_000282.1

      Status: REVIEWED

      Source sequence(s)
      BC103752, BU677171, DC336483
      Consensus CDS
      CCDS14438.1
      UniProtKB/Swiss-Prot
      P00558
      UniProtKB/TrEMBL
      V9HWF4
      Related
      ENSP00000362413.4, OTTHUMP00000023595, ENST00000373316.4, OTTHUMT00000057310
      Conserved Domains (1) summary
      PTZ00005
      Location:3417
      PTZ00005; phosphoglycerate kinase; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      78104169..78126827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      77252363..77275021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center