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    PGK1 phosphoglycerate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 5230, updated on 27-Dec-2024

    Summary

    Official Symbol
    PGK1provided by HGNC
    Official Full Name
    phosphoglycerate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:8896
    See related
    Ensembl:ENSG00000102144 MIM:311800; AllianceGenome:HGNC:8896
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 128.3), heart (RPKM 120.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PGK1 in Genome Data Viewer
    Location:
    Xq21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (78104248..78129295)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (76539329..76564376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (77359745..77384792)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATPase copper transporting alpha Neighboring gene uncharacterized LOC124905201 Neighboring gene phosphoglycerate mutase family member 4 Neighboring gene NANOG hESC enhancer GRCh37_chrX:77309981-77310491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29785 Neighboring gene TATA-box binding protein associated factor 9b Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:77413269-77414468 Neighboring gene fibronectin type III domain containing 3C, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (276 hits/924 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-09-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2024-09-10)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with PGK1 PubMed
    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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC8947, MGC117307, MGC142128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding  
    enables ATP binding  
    enables ATP binding  
    enables phosphoglycerate kinase activity PubMed 
    enables phosphoglycerate kinase activity  
    enables phosphoglycerate kinase activity PubMed 
    enables phosphoglycerate kinase activity  
    enables protein binding PubMed 
    enables protein serine/threonine kinase activity PubMed 
    enables protein-disulfide reductase (NAD(P)H) activity PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol  
    located_in cytosol PubMed 
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in extracellular space PubMed 
    located_in membrane PubMed 
    located_in membrane raft PubMed 
    located_in mitochondrial matrix PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000291.4 → NP_000282.1  phosphoglycerate kinase 1

      See identical proteins and their annotated locations for NP_000282.1

      Status: REVIEWED

      Source sequence(s)
      AL049589, BC103752, BU677171, DC336483
      Consensus CDS
      CCDS14438.1
      UniProtKB/Swiss-Prot
      A8K4W6, B7Z7A9, P00558, Q5J7W1, Q6IBT6, Q8NI87
      UniProtKB/TrEMBL
      V9HWF4
      Related
      ENSP00000362413.4, ENST00000373316.5
      Conserved Domains (1) summary
      PTZ00005
      Location:3 → 417
      PTZ00005; phosphoglycerate kinase; Provisional

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      78104248..78129295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      76539329..76564376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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