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PGK1 phosphoglycerate kinase 1 [ Homo sapiens (human) ]

Gene ID: 5230, updated on 19-Apr-2014
Official Symbol
PGK1provided by HGNC
Official Full Name
phosphoglycerate kinase 1provided by HGNC
Primary source
HGNC:8896
Locus tag
RP4-570L12.1
See related
Ensembl:ENSG00000102144; HPRD:02412; MIM:311800
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]
Location :
Xq13.3
Sequence :
Chromosome: X; NC_000023.11 (78104169..78126827)
See PGK1 in Epigenomics, MapViewer

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATPase, Cu++ transporting, alpha polypeptide Neighboring gene chromosome 4 open reading frame 46 pseudogene Neighboring gene phosphoglycerate mutase family member 4 Neighboring gene TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa Neighboring gene fibronectin type III domain containing 3C, pseudogene

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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
phosphoglycerate kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
epithelial cell differentiation IEP
Inferred from Expression Pattern
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
more info
 
glycolytic process IEA
Inferred from Electronic Annotation
more info
 
glycolytic process TAS
Traceable Author Statement
more info
 
phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
phosphoglycerate kinase 1
Names
phosphoglycerate kinase 1
PRP 2
primer recognition protein 2
cell migration-inducing gene 10 protein
epididymis secretory sperm binding protein Li 68p
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 proteins identical to NP_000282.1

    Status: REVIEWED

    Source sequence(s)
    BC103752, BU677171, DC336483
    Consensus CDS
    CCDS14438.1
    UniProtKB/Swiss-Prot
    P00558
    UniProtKB/TrEMBL
    V9HWF4
    Conserved Domains (1) summary
    cd00318
    Location:9416
    Blast Score: 1731
    Phosphoglycerate_kinase; Phosphoglycerate kinase (PGK) is a monomeric enzyme which catalyzes the transfer of the high-energy phosphate group of 1,3-bisphosphoglycerate to ADP, forming ATP and 3-phosphoglycerate. This reaction represents the first of the two substrate-level ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38 Primary Assembly

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

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

    Range
    70945945..70968603
    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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