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Aliases for PGK1 Gene

Aliases for PGK1 Gene

  • Phosphoglycerate Kinase 1 2 3
  • PGKA 3 4 6
  • Cell Migration-Inducing Gene 10 Protein 3 4
  • Primer Recognition Protein 2 3 4
  • EC 2.7.2.3 4 64
  • PRP 2 3 4
  • Epididymis Secretory Sperm Binding Protein Li 68p 3
  • HEL-S-68p 3
  • MIG10 3

External Ids for PGK1 Gene

Summaries for PGK1 Gene

Entrez Gene Summary for PGK1 Gene

  • 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]

GeneCards Summary for PGK1 Gene

PGK1 (Phosphoglycerate Kinase 1) is a Protein Coding gene. Diseases associated with PGK1 include phosphoglycerate kinase 1 deficiency and phosphoglycerate kinase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include phosphoglycerate kinase activity. An important paralog of this gene is PGK2.

UniProtKB/Swiss-Prot for PGK1 Gene

  • In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein)

Gene Wiki entry for PGK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGK1 Gene

Genomics for PGK1 Gene

Genomic Location for PGK1 Gene

Start:
78,065,188 bp from pter
End:
78,129,296 bp from pter
Size:
64,109 bases
Orientation:
Plus strand

Genomic View for PGK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PGK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGK1 Gene

Regulatory Elements for PGK1 Gene

Proteins for PGK1 Gene

  • Protein details for PGK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00558-PGK1_HUMAN
    Recommended name:
    Phosphoglycerate kinase 1
    Protein Accession:
    P00558
    Secondary Accessions:
    • A8K4W6
    • B7Z7A9
    • Q5J7W1
    • Q6IBT6
    • Q8NI87

    Protein attributes for PGK1 Gene

    Size:
    417 amino acids
    Molecular mass:
    44615 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for PGK1 Gene

    Alternative splice isoforms for PGK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGK1 Gene

Proteomics data for PGK1 Gene at MOPED

Post-translational modifications for PGK1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys6, Lys11, Lys30, Lys48, Lys75, Lys86, Lys91, Lys97, Lys106, Lys156, Lys184, Lys192, Lys199, Lys216, Lys220, Lys264, Lys267, Lys279, Lys291, Lys332, and Lys361

Other Protein References for PGK1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PGK1 Gene

UniProtKB/Swiss-Prot:

PGK1_HUMAN
Family:
  • Belongs to the phosphoglycerate kinase family.:
    • P00558
genes like me logo Genes that share domains with PGK1: view

No data available for Gene Families for PGK1 Gene

Function for PGK1 Gene

Molecular function for PGK1 Gene

GENATLAS Biochemistry: phosphoglycerate kinase 1,glycolysis,energy pathway,key enzyme for ATP generation
UniProtKB/Swiss-Prot CatalyticActivity: ATP + 3-phospho-D-glycerate = ADP + 3-phospho-D-glyceroyl phosphate
UniProtKB/Swiss-Prot Function: In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein)

Enzyme Numbers (IUBMB) for PGK1 Gene

Gene Ontology (GO) - Molecular Function for PGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004618 phosphoglycerate kinase activity ISS --
GO:0005515 protein binding IPI 20392205
GO:0005524 ATP binding ISS --
genes like me logo Genes that share ontologies with PGK1: view

miRNA for PGK1 Gene

miRTarBase miRNAs that target PGK1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for PGK1 Gene

Localization for PGK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PGK1 Gene COMPARTMENTS Subcellular localization image for PGK1 gene
Compartment Confidence
cytosol 4
chloroplast 2
cytoskeleton 2
mitochondrion 2
nucleus 2
extracellular 1
lysosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 11487543
genes like me logo Genes that share ontologies with PGK1: view

Pathways for PGK1 Gene

genes like me logo Genes that share pathways with PGK1: view

UniProtKB/Swiss-Prot P00558-PGK1_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 2/5

Gene Ontology (GO) - Biological Process for PGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process --
GO:0016310 phosphorylation ISS --
genes like me logo Genes that share ontologies with PGK1: view

Compounds for PGK1 Gene

(5) HMDB Compounds for PGK1 Gene

Compound Synonyms Cas Number PubMed IDs
2-Phosphoglyceric acid
  • 2-(dihydrogen phosphate)Glycerate
2553-59-5
3-Phosphoglyceric acid
  • 3-(dihydrogen phosphate)Glycerate
820-11-1
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
1981-49-3

(4) Drugbank Compounds for PGK1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3-Phosphoglyceric Acid
target
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate
target
Adenosine-5'-Diphosphate
20398-34-9 target
Lamivudine
134678-17-4 enzyme substrate

(30) Novoseek inferred chemical compound relationships for PGK1 Gene

Compound -log(P) Hits PubMed IDs
actb 81.3 6
pgk2 80.2 3
esperamicin a1 74.3 4
zma 53.8 1
glyceraldehyde 3-phosphate 50.7 7
genes like me logo Genes that share compounds with PGK1: view

Transcripts for PGK1 Gene

mRNA/cDNA for PGK1 Gene

(1) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PGK1 Gene

Phosphoglycerate kinase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PGK1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
SP1: - -
SP2:
SP3: - - -
SP4:
SP5: - -
SP6: -
SP7:

Relevant External Links for PGK1 Gene

GeneLoc Exon Structure for
PGK1
ECgene alternative splicing isoforms for
PGK1

Expression for PGK1 Gene

mRNA expression in normal human tissues for PGK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PGK1 Gene

This gene is overexpressed in Whole Blood (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PGK1 Gene

SOURCE GeneReport for Unigene cluster for PGK1 Gene Hs.78771

genes like me logo Genes that share expressions with PGK1: view

Orthologs for PGK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PGK1 36
  • 99.84 (n)
  • 100 (a)
PGK1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PGK1 36
  • 94.32 (n)
  • 97.12 (a)
PGK1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PGK1 36
  • 93.69 (n)
  • 96.4 (a)
PGK1 37
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgk1 36
  • 93.13 (n)
  • 97.84 (a)
Pgk1 16
Pgk1 37
  • 98 (a)
OneToMany
Pgk1-rs7 37
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 85 (a)
ManyToMany
-- 37
  • 89 (a)
ManyToMany
-- 37
  • 91 (a)
ManyToMany
-- 37
  • 91 (a)
ManyToMany
-- 37
  • 92 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pgk1 36
  • 92.73 (n)
  • 97.36 (a)
chicken
(Gallus gallus)
Aves PGK1 36
  • 79.78 (n)
  • 88.49 (a)
PGK1 37
  • 88 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 88 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia pgk1-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pgk1 36
  • 79.06 (n)
  • 86.09 (a)
Str.6909 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.365 36
zebrafish
(Danio rerio)
Actinopterygii Dr.898 36
pgk1 36
  • 77.7 (n)
  • 88.25 (a)
pgk1 37
  • 88 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008802 36
  • 65.69 (n)
  • 72.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9961 37
  • 56 (a)
ManyToMany
Pgk 36
  • 66.67 (n)
  • 70.8 (a)
Pgk 37
  • 70 (a)
ManyToMany
Pgk 38
  • 70 (a)
CG9961 38
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea pgk-1 36
  • 65.3 (n)
  • 72.95 (a)
pgk-1 37
  • 72 (a)
OneToMany
T03F1.3 38
  • 72 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL038C 36
  • 60.79 (n)
  • 63.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGK1 36
  • 61.02 (n)
  • 66.1 (a)
PGK1 37
  • 65 (a)
OneToMany
PGK1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11011g 36
  • 59.74 (n)
  • 64.49 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G56190 36
  • 56.13 (n)
  • 51.55 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07914 36
  • 64.33 (n)
  • 69.32 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pgk1 36
  • 63.28 (n)
  • 67.31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7747 36
Species with no ortholog for PGK1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PGK1 Gene

ENSEMBL:
Gene Tree for PGK1 (if available)
TreeFam:
Gene Tree for PGK1 (if available)

Paralogs for PGK1 Gene

Paralogs for PGK1 Gene

Selected SIMAP similar genes for PGK1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PGK1 Gene

genes like me logo Genes that share paralogs with PGK1: view

Variants for PGK1 Gene

Sequence variations from dbSNP and Humsavar for PGK1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs16657 -- 78,126,784(-) CAGCT(-/GTGA)GTATT utr-variant-3-prime
rs717689 -- 78,124,438(-) TGTTG(A/G)GAATG intron-variant
rs1136457 -- 78,126,657(+) TTTTT(A/T)TTTTT utr-variant-3-prime
rs2007039 -- 78,118,027(+) AGAAT(C/T)TGAAT intron-variant
rs2073175 -- 78,117,548(+) CTGCC(A/G)CTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PGK1 Gene

Variant ID Type Subtype PubMed ID
nsv483140 CNV Gain 15286789

Relevant External Links for PGK1 Gene

HapMap Linkage Disequilibrium report
PGK1
Human Gene Mutation Database (HGMD)
PGK1
Locus Specific Mutation Databases (LSDB)
PGK1

Disorders for PGK1 Gene

(1) OMIM Diseases for PGK1 Gene (311800)

UniProtKB/Swiss-Prot

PGK1_HUMAN
  • Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. {ECO:0000269 PubMed:1547346, ECO:0000269 PubMed:1586722, ECO:0000269 PubMed:2001457, ECO:0000269 PubMed:6933565, ECO:0000269 PubMed:6941312, ECO:0000269 PubMed:8043870, ECO:0000269 PubMed:8615693, ECO:0000269 PubMed:8673469, ECO:0000269 PubMed:9744480}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PGK1 Gene

(17) Novoseek inferred disease relationships for PGK1 Gene

Disease -log(P) Hits PubMed IDs
menkes disease 75.5 4
anemia hemolytic 52.5 2
mental retardation 30.1 1
anemia aplastic 21.6 1
colon carcinoma 14.2 2

Genatlas disease for PGK1 Gene

Hemolytic anemia

Relevant External Links for PGK1

Genetic Association Database (GAD)
PGK1
Human Genome Epidemiology (HuGE) Navigator
PGK1
genes like me logo Genes that share disorders with PGK1: view

Publications for PGK1 Gene

  1. Sequence of the promoter region of the gene for human X-linked 3- phosphoglycerate kinase]. (PMID: 6099325) Singer-Sam J. … Riggs A.D. (Gene 1984) 2 3 4
  2. Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. (PMID: 6188151) Michelson A.M. … Orkin S.H. (Proc. Natl. Acad. Sci. U.S.A. 1983) 2 3 4
  3. Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. (PMID: 6933565) Fujii H. … Yoshida A. (Proc. Natl. Acad. Sci. U.S.A. 1980) 3 4
  4. Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. (PMID: 6941312) Fujii H. … Yoshida A. (Proc. Natl. Acad. Sci. U.S.A. 1981) 3 4
  5. Complete amino acid sequence of human phosphoglycerate kinase. Cyanogen bromide peptides and complete amino acid sequence. (PMID: 7391027) Huang I.-Y. … Yoshida A. (J. Biol. Chem. 1980) 3 4

Products for PGK1 Gene

  • Addgene plasmids for PGK1

Sources for PGK1 Gene

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