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PGK1 phosphoglycerate kinase 1 [ Homo sapiens (human) ]

Gene ID: 5230, updated on 12-Sep-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
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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
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

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)
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