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Aliases for PGK1 Gene

Aliases for PGK1 Gene

  • Phosphoglycerate Kinase 1 2 3 5
  • Cell Migration-Inducing Gene 10 Protein 3 4
  • Primer Recognition Protein 2 3 4
  • EC 2.7.2.3 4 63
  • PRP 2 3 4
  • PGKA 3 4
  • Epididymis Secretory Sperm Binding Protein Li 68p 3
  • HEL-S-68p 3
  • MIG10 3

External Ids for PGK1 Gene

Previous GeneCards Identifiers for PGK1 Gene

  • GC0XP072905
  • GC0XP074321
  • GC0XP075400
  • GC0XP076115
  • GC0XP077165
  • GC0XP077246
  • GC0XP070945

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 glycogen storage disease due to phosphoglycerate kinase 1 deficiency. Among its related pathways are Carbon metabolism and Glucose 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) (PubMed:2324090). May play a role in sperm motility (PubMed:26677959).

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

Regulatory Elements for PGK1 Gene

Enhancers for PGK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PGK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PGK1 Gene

Chromosome:
X
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

Genes around PGK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 6, Lys 11, Lys 30, Lys 48, Lys 86, Lys 97, Lys 106, Lys 184, Lys 192, Lys 199, Lys 216, Lys 264, Lys 267, Lys 279, Lys 332, and Lys 361
  • Modification sites at PhosphoSitePlus

Other Protein References for PGK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for PGK1 Gene

Graphical View of Domain Structure for InterPro Entry

P00558

UniProtKB/Swiss-Prot:

PGK1_HUMAN :
  • Belongs to the phosphoglycerate kinase family.
Family:
  • Belongs to the phosphoglycerate kinase family.
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) (PubMed:2324090). May play a role in sperm motility (PubMed:26677959).

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 --
genes like me logo Genes that share ontologies with PGK1: view
genes like me logo Genes that share phenotypes with PGK1: view

Human Phenotype Ontology for PGK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PGK1 Gene

miRTarBase miRNAs that target PGK1

No data available for Animal Models , Transcription Factor Targets 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 5
extracellular 5
nucleus 2
cytoskeleton 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0045121 membrane raft IDA 25204797
genes like me logo Genes that share ontologies with PGK1: view

Pathways & Interactions 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:0030855 epithelial cell differentiation IEP 21492153
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PGK1: view

No data available for SIGNOR curated interactions for PGK1 Gene

Drugs & Compounds for PGK1 Gene

(16) Drugs for PGK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 601
Adenosine triphosphate Approved Nutra 0
3-Phosphoglyceric acid Experimental Pharma Target 0
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0
2-Phosphoglyceric acid Experimental Pharma 0

(21) Additional Compounds for PGK1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Glyceric acid 1,3-biphosphate
  • 1,3-Biphosphoglycerate
  • 1,3-Biphosphoglyceric acid
  • 1,3-Bis-phosphoglycerate
  • 1,3-Bisphosphoglycerate
  • 1,3-Diphosphateglycerate
1981-49-3
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:

Inhibitory RNA Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for PGK1 Gene

This gene is overexpressed in Whole Blood (x5.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PGK1 Gene



SOURCE GeneReport for Unigene cluster for PGK1 Gene Hs.78771

mRNA Expression by UniProt/SwissProt for PGK1 Gene

P00558-PGK1_HUMAN
Tissue specificity: Mainly expressed in spermatogonia. Localized on the principle piece in the sperm (at protein level). Expression significantly decreased in the testis of elderly men.
genes like me logo Genes that share expression patterns with PGK1: view

Protein tissue co-expression partners for PGK1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for PGK1 Gene

Orthologs for PGK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PGK1 35
  • 94.32 (n)
  • 97.12 (a)
PGK1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PGK1 35
  • 93.69 (n)
  • 96.4 (a)
PGK1 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgk1 35
  • 93.13 (n)
  • 97.84 (a)
Pgk1 16
Pgk1 36
  • 98 (a)
OneToMany
Pgk1-rs7 36
  • 98 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PGK1 35
  • 99.84 (n)
  • 100 (a)
PGK1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pgk1 35
  • 92.73 (n)
  • 97.36 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 85 (a)
ManyToMany
-- 36
  • 89 (a)
ManyToMany
-- 36
  • 91 (a)
ManyToMany
-- 36
  • 91 (a)
ManyToMany
-- 36
  • 92 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
chicken
(Gallus gallus)
Aves PGK1 35
  • 79.78 (n)
  • 88.49 (a)
PGK1 36
  • 88 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pgk1 35
  • 79.06 (n)
  • 86.09 (a)
Str.6909 35
African clawed frog
(Xenopus laevis)
Amphibia pgk1-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.898 35
pgk1 35
  • 77.7 (n)
  • 88.25 (a)
pgk1 36
  • 88 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.365 35
fruit fly
(Drosophila melanogaster)
Insecta CG9961 37
  • 60 (a)
Pgk 37
  • 70 (a)
Pgk 35
  • 66.67 (n)
  • 70.8 (a)
CG9961 36
  • 56 (a)
ManyToMany
Pgk 36
  • 70 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008802 35
  • 65.69 (n)
  • 72.99 (a)
worm
(Caenorhabditis elegans)
Secernentea T03F1.3 37
  • 72 (a)
pgk-1 35
  • 65.3 (n)
  • 72.95 (a)
pgk-1 36
  • 72 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL038C 35
  • 60.79 (n)
  • 63.29 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A11011g 35
  • 59.74 (n)
  • 64.49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PGK1 35
  • 61.02 (n)
  • 66.1 (a)
PGK1 36
  • 65 (a)
OneToMany
PGK1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G56190 35
  • 56.13 (n)
  • 51.55 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7747 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07914 35
  • 64.33 (n)
  • 69.32 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pgk1 35
  • 63.28 (n)
  • 67.31 (a)
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

(1) 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
VAR_006076 Phosphoglycerate kinase 1 deficiency (PGK1D)
VAR_006077 Phosphoglycerate kinase 1 deficiency (PGK1D)
VAR_006078 Phosphoglycerate kinase 1 deficiency (PGK1D)
VAR_006080 Phosphoglycerate kinase 1 deficiency (PGK1D)
VAR_006081 Phosphoglycerate kinase 1 deficiency (PGK1D)

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

Variant ID Type Subtype PubMed ID
nsv483140 CNV Gain 15286789

Variation tolerance for PGK1 Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PGK1 Gene

HapMap Linkage Disequilibrium report
PGK1
Human Gene Mutation Database (HGMD)
PGK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGK1 Gene

Disorders for PGK1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PGK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
phosphoglycerate kinase 1 deficiency
  • phosphoglycerate kinase-1
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • gsd due to phosphoglycerate kinase 1 deficiency
subclavian artery aneurysm
  • aneurysm of subclavian artery
acute retinal necrosis syndrome
  • acute retinal necrosis
hemolytic anemia
  • anemia hemolytic
- elite association - COSMIC cancer census association via MalaCards
Search PGK1 in MalaCards View complete list of genes associated with diseases

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.

Genatlas disease for PGK1 Gene

hemolytic anemia

Relevant External Links for PGK1

Genetic Association Database (GAD)
PGK1
Human Genome Epidemiology (HuGE) Navigator
PGK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Phosphoglycerate kinase 1 a promoting enzyme for peritoneal dissemination in gastric cancer. (PMID: 19688824) Zieker D. … KAPnigsrainer A. (Int. J. Cancer 2010) 3 23
  3. Genomic assessment of follicular marker genes as pregnancy predictors for human IVF. (PMID: 19778949) Hamel M. … Sirard M.A. (Mol. Hum. Reprod. 2010) 3 23
  4. Characterization of phosphoglycerate kinase-1 expression of stromal cells derived from tumor microenvironment in prostate cancer progression. (PMID: 20068185) Wang J. … Taichman R.S. (Cancer Res. 2010) 3 23
  5. PGK1 a potential marker for peritoneal dissemination in gastric cancer. (PMID: 18453750) Zieker D. … KAPnigsrainer A. (Cell. Physiol. Biochem. 2008) 3 23

Products for PGK1 Gene

Sources for PGK1 Gene

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