Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5230
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoglycerate kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGK1
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-68p, MIG10, PGKA
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.1
Summary Summary of gene provided in NCBI Entrez 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 cel
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852528 G>A Pathogenic Coding sequence variant, missense variant
rs137852529 G>A,C Pathogenic Coding sequence variant, missense variant
rs137852531 T>C Pathogenic Coding sequence variant, missense variant
rs137852532 G>T Pathogenic Coding sequence variant, missense variant
rs137852533 T>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050550 hsa-miR-20a-5p CLASH 23622248
MIRT043151 hsa-miR-324-5p CLASH 23622248
MIRT040970 hsa-miR-18a-3p CLASH 23622248
MIRT717331 hsa-miR-181a-2-3p HITS-CLIP 19536157
MIRT717330 hsa-miR-1273g-3p HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
HIF1A Activation 8089148
MYC Unknown 18809243
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004618 Function Phosphoglycerate kinase activity IBA 21873635
GO:0004618 Function Phosphoglycerate kinase activity IMP 7391028
GO:0004618 Function Phosphoglycerate kinase activity ISS
GO:0005515 Function Protein binding IPI 20392205, 20849852, 26030842, 26356530
GO:0005524 Function ATP binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
311800 8896 ENSG00000102144
Protein
UniProt ID P00558
Protein name Phosphoglycerate kinase 1 (EC 2.7.11.1) (EC 2.7.2.3) (Cell migration-inducing gene 10 protein) (Primer recognition protein 2) (PRP 2)
Protein function Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate (PubMed:30323285, PubMed:7391028). Both L- and D- forms of purine and pyrimidine nucleotides
PDB 2WZB , 2WZC , 2WZD , 2X13 , 2X14 , 2X15 , 2XE6 , 2XE7 , 2XE8 , 2Y3I , 2YBE , 2ZGV , 3C39 , 3C3A , 3C3B , 3C3C , 3ZOZ , 4AXX , 4O33 , 5M1R , 5M3U , 5M6Z , 5MXM , 5NP8 , 5O7D , 8YHP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00162 PGK 9 406 Phosphoglycerate kinase Domain
Tissue specificity 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. {ECO:0000269|PubMed:26677959}.
Sequence
Sequence length 417
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycolysis / Gluconeogenesis
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
HIF-1 signaling pathway
  Glycolysis
Gluconeogenesis
Manipulation of host energy metabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Cutis laxa, x-linked Cutis laxa, x-linked rs151340631, rs151340632, rs797045344
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Glycogen storage disease Glycogen Storage Disease, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691
View all (721 more)
Unknown
Disease term Disease name Evidence References Source
Chromophobe carcinoma Chromophobe Renal Cell Carcinoma 15108329 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 14573703, 34814273
Adenocarcinoma Stimulate 27150162
Adenocarcinoma of Lung Associate 14573703
Altitude Sickness Associate 33393624
Anemia Hemolytic Associate 16412025, 39787833
Astrocytoma Associate 22742733
Bone Diseases Metabolic Associate 22619369
Bone Marrow Diseases Associate 24376734
Brain Diseases Metabolic Inborn Associate 39787833
Breast Neoplasms Associate 16048908, 30537744, 31578148, 32028979, 32070368, 33597614, 34600547, 34790279, 34868337, 35441810, 36077333, 36860848, 37190091, 37986376, 39192221
View all (1 more)