PGK1 Gene (Protein Coding)

Phosphoglycerate Kinase 1

GC0XP077922
GIFtS:
50
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 cons... See more...

Aliases for PGK1 Gene

Aliases for PGK1 Gene

  • Phosphoglycerate Kinase 1 2 3 4 5
  • Cell Migration-Inducing Gene 10 Protein 3 4
  • Primer Recognition Protein 2 3 4
  • EC 2.7.2.3 4 54
  • 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
  • GC0XP078065
  • GC0XP077917
  • GC0XP077919
  • GC0XP077913
  • GC0XP077915

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 Male Infertility Due To Obstructive Azoospermia. Among its related pathways are Carbon metabolism and Glucose metabolism. Gene Ontology (GO) annotations related to this gene include phosphoglycerate kinase activity. An important paralog of this gene is PGK2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PGK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PGK1 Gene

Genomics for PGK1 Gene

GeneHancer (GH) Regulatory Elements for PGK1 Gene

Promoters and enhancers for PGK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PGK1 gene promoter:
  • C/EBPalpha
  • C/EBPbeta
  • CBF(2)
  • E47
  • E4BP4
  • Evi-1
  • Hand1
  • NF-Y
  • RP58
  • XBP-1

Genomic Locations for PGK1 Gene

Genomic Locations for PGK1 Gene
chrX:77,910,739-78,129,295
(GRCh38/hg38)
Size:
218,557 bases
Orientation:
Plus strand
chrX:77,320,685-77,384,793
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for PGK1 Gene

Proteins for PGK1 Gene

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  • 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

Protein Expression for PGK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PGK1 Gene

P00558:
  • ITNNQRI
  • DAFGTAHR
  • NMLDKVNEMIIGGGM
  • ELKSLLGKDVLFLKDCVG
  • MDEVVKAT
  • KIVKDLM
  • LLENLRF
  • RVDFNVP
  • VNDAFGT
  • MPDKYSLEPVA
  • RAHSSMVG
  • DCVGPEV
  • TFLKVLNNMEIG
  • LDNGAKS
  • DVYVNDAF
  • GTKALMDE
  • AILGGAK
  • DEEGAKIV
  • DKVSHVSTGGG
  • SLFDEEG
  • DKIQLINN
  • EGKVLPG
  • DKFDENA
  • STGGGAS
  • ESSKKYAEAV
  • GSVILLEN
  • LENLRFH
  • KAEKNGVKITLPVDF
  • GGGDTATCC
  • GGMAFTF
  • MSHLGRP
  • WNGPVGVFE
  • TIIGGGD

Post-translational modifications for PGK1 Gene

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

Other Protein References for PGK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PGK1

Domains & Families for PGK1 Gene

Gene Families for PGK1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PGK1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PGK1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphoglycerate kinase (A8K4W6_HUMAN)
  • Phosphoglycerate kinase (B4DHM5_HUMAN)
  • Phosphoglycerate kinase (B4E1H9_HUMAN)
  • Phosphoglycerate kinase (B7Z7A9_HUMAN)
  • Phosphoglycerate kinase (E7ERH5_HUMAN)

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

Function for PGK1 Gene

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Molecular function for PGK1 Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP; Xref=Rhea:RHEA:14801, ChEBI:CHEBI:30616, ChEBI:CHEBI:57604, ChEBI:CHEBI:58272, ChEBI:CHEBI:456216; EC=2.7.2.3;.
GENATLAS Biochemistry:
phosphoglycerate kinase 1,glycolysis,energy pathway,key enzyme for ATP generation

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 IMP,ISS --
GO:0005515 protein binding IPI 20392205
GO:0005524 ATP binding IBA,ISS --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
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

CRISPR Products

miRNA for PGK1 Gene

miRTarBase miRNAs that target PGK1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGK1

Clone Products

  • Addgene plasmids for PGK1

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGK1 gene
Compartment Confidence
extracellular 4
cytosol 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 11130727
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0045121 membrane raft IDA 25204797
genes like me logo Genes that share ontologies with PGK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PGK1 Gene

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.

SIGNOR curated interactions for PGK1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PGK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IMP 7391028
GO:0016310 phosphorylation ISS --
GO:0016525 negative regulation of angiogenesis IMP 11130727
GO:0030855 epithelial cell differentiation IEP 21492153
genes like me logo Genes that share ontologies with PGK1: view

Drugs & Compounds for PGK1 Gene

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acyclovir Approved Pharma Enzyme, substrate 113
Copper Approved, Investigational Pharma Target 227
Lamivudine Approved, Investigational Pharma Enzyme, substrate Nucleoside analog reverse transcriptase inhibitor 682
3-Phosphoglyceric acid Experimental Pharma Target 0
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Phosphoglyceric acid
  • 3-Hydroxy-2-(phosphonooxy)propanoic acid
  • 3-Hydroxy-2-(phosphonooxy)propanoate
  • 2-Phosphoglycerate
  • 2-(Dihydrogen phosphate)glycerate
  • 2-(Dihydrogen phosphate)glyceric acid
 2553-59-5
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PGK1 Gene

(1) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(2336) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGK1

Clone Products

  • Addgene plasmids for PGK1

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PGK1 Gene

mRNA expression in normal human tissues for PGK1 Gene
mRNA expression by BioGPS for PGK1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for PGK1 Gene



Protein tissue co-expression partners for PGK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PGK1 Gene:

PGK1

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.

Evidence on tissue expression from TISSUES for PGK1 Gene

  • Skin(5)
  • Nervous system(5)
  • Blood(4.9)
  • Liver(4.9)
  • Intestine(4.7)
  • Kidney(4.7)
  • Lung(4.7)
  • Heart(4.6)
  • Eye(4.3)
  • Muscle(4.2)
  • Stomach(3.8)
  • Pancreas(2.9)
  • Bone marrow(2.8)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Adrenal gland(2.2)
  • Gall bladder(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PGK1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with PGK1: view

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
chimpanzee
(Pan troglodytes)
 Mammalia PGK1 33 32
  • 99.84 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Pgk1-rs7 33
  • 98 (a)
 OneToMany
Pgk1 17 33 32
  • 93.13 (n)
cow
(Bos Taurus)
 Mammalia PGK1 33 32
  • 94.32 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PGK1 33 32
  • 93.69 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pgk1 32
  • 92.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 92 (a)
 ManyToMany
-- 33
  • 91 (a)
 ManyToMany
-- 33
  • 91 (a)
 ManyToMany
-- 33
  • 89 (a)
 ManyToMany
-- 33
  • 85 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 89 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves PGK1 33 32
  • 79.78 (n)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 88 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia pgk1 32
  • 79.06 (n)
Str.6909 32
African clawed frog
(Xenopus laevis)
 Amphibia pgk1-prov 32
zebrafish
(Danio rerio)
 Actinopterygii pgk1 33 32
  • 77.7 (n)
 OneToMany
Dr.898 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.365 32
fruit fly
(Drosophila melanogaster)
 Insecta Pgk 33 34 32
  • 66.67 (n)
 ManyToMany
CG9961 33 34
  • 56 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008802 32
  • 65.69 (n)
worm
(Caenorhabditis elegans)
 Secernentea T03F1.3 34
  • 72 (a)
pgk-1 33 32
  • 65.3 (n)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PGK1 35 33 32
  • 61.02 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AEL038C 32
  • 60.79 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0A11011g 32
  • 59.74 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G56190 32
  • 56.13 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU07914 32
  • 64.33 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes pgk1 32
  • 63.28 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea Cin.7747 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.7747 32
Species where no ortholog for PGK1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PGK1: view image

Paralogs for PGK1 Gene

Paralogs for PGK1 Gene

(1) SIMAP similar genes for PGK1 Gene using alignment to 3 proteins:

  • PGK1_HUMAN
  • B7Z7A9_HUMAN
  • E7ERH5_HUMAN
genes like me logo Genes that share paralogs with PGK1: view

Variants for PGK1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PGK1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1060499671 uncertain-significance, Epileptic encephalopathy, Profound global developmental delay 78,123,355(+) G/T coding_sequence_variant, missense_variant
rs137852528 pathogenic, Phosphoglycerate kinase 1 deficiency, - 78,123,240(+) G/A coding_sequence_variant, missense_variant
rs137852529 pathogenic, Phosphoglycerate kinase 1 deficiency, Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] 78,118,146(+) G/A/C coding_sequence_variant, missense_variant
rs137852530 other, Phosphoglycerate kinase electrophoretic variant PGK II, - 78,124,992(+) C/A coding_sequence_variant, missense_variant
rs137852531 pathogenic, Phosphoglycerate kinase 1 deficiency, Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653] 78,113,890(+) T/C coding_sequence_variant, missense_variant

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)

Additional Variant Information for PGK1 Gene

Human Gene Mutation Database (HGMD)
PGK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PGK1 Gene

Disorders for PGK1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PGK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
phosphoglycerate kinase 1 deficiency
  • pgk1 deficiency
male infertility due to obstructive azoospermia
  • male infertility due to impaired sperm transport
menkes disease
  • mk; mnk
hemolytic anemia
  • anemia hemolytic
phosphoglycerate kinase deficiency
  • phosphoglycerate kinase 1 deficiency
- 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

Additional Disease Information for PGK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AD (Gene 1984) 2 3 4 56
  2. Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. (PMID: 6188151) Michelson AM … Orkin SH (Proceedings of the National Academy of Sciences of the United States of America 1983) 2 3 4 56
  3. Genomic assessment of follicular marker genes as pregnancy predictors for human IVF. (PMID: 19778949) Hamel M … Sirard MA (Molecular human reproduction 2010) 3 23 56
  4. Phosphoglycerate kinase 1 a promoting enzyme for peritoneal dissemination in gastric cancer. (PMID: 19688824) Zieker D … Königsrainer A (International journal of cancer 2010) 3 23 56
  5. Characterization of phosphoglycerate kinase-1 expression of stromal cells derived from tumor microenvironment in prostate cancer progression. (PMID: 20068185) Wang J … Taichman RS (Cancer research 2010) 3 23 56

ExternalLinks

View latest publications for PGK1 gene in Mastermind

Products for PGK1 Gene

  • Addgene plasmids for PGK1

Sources for PGK1 Gene