PGK1 phosphoglycerate kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PGK1provided by HGNC
Official Full Name: phosphoglycerate kinase 1provided by HGNC
Primary source: HGNC:HGNC:8896
See related: Ensembl:ENSG00000102144 MIM:311800; AllianceGenome:HGNC:8896
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]
Expression: Ubiquitous expression in kidney (RPKM 128.3), heart (RPKM 120.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (78104248..78129295)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (76539329..76564376)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (77359745..77384792)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CircGLIS3 promotes gastric cancer progression by regulating the miR-1343-3p/PGK1 pathway and inhibiting vimentin phosphorylation.
Title: CircGLIS3 promotes gastric cancer progression by regulating the miR-1343-3p/PGK1 pathway and inhibiting vimentin phosphorylation.
PRMT1-mediated PGK1 arginine methylation promotes colorectal cancer glycolysis and tumorigenesis.
Title: PRMT1-mediated PGK1 arginine methylation promotes colorectal cancer glycolysis and tumorigenesis.
RNA Binding Protein PTBP1 Promotes the Metastasis of Gastric Cancer by Stabilizing PGK1 mRNA.
Title: RNA Binding Protein PTBP1 Promotes the Metastasis of Gastric Cancer by Stabilizing PGK1 mRNA.
Upregulation of mitochondrial PGK1 by ROS-TBC1D15 pathway promotes neuronal death after oxygen-glucose deprivation/reoxygenation injury.
Title: Upregulation of mitochondrial PGK1 by ROS-TBC1D15 pathway promotes neuronal death after oxygen-glucose deprivation/reoxygenation injury.
SNHG17 alters anaerobic glycolysis by resetting phosphorylation modification of PGK1 to foster pro-tumor macrophage formation in pancreatic ductal adenocarcinoma.
Title: SNHG17 alters anaerobic glycolysis by resetting phosphorylation modification of PGK1 to foster pro-tumor macrophage formation in pancreatic ductal adenocarcinoma.
H19 encourages aerobic glycolysis and cell growth in gastric cancer cells through the axis of microRNA-19a-3p and phosphoglycerate kinase 1.
Title: H19 encourages aerobic glycolysis and cell growth in gastric cancer cells through the axis of microRNA-19a-3p and phosphoglycerate kinase 1.
N[6]-methyladenosine reader YTHDF3 contributes to the aerobic glycolysis of osteosarcoma through stabilizing PGK1 stability.
Title: N(6)-methyladenosine reader YTHDF3 contributes to the aerobic glycolysis of osteosarcoma through stabilizing PGK1 stability.
Comprehensive analysis of lncRNA-mRNA co-expression networks in HPV-driven cervical cancer reveals the pivotal function of LINC00511-PGK1 in tumorigenesis.
Title: Comprehensive analysis of lncRNA-mRNA co-expression networks in HPV-driven cervical cancer reveals the pivotal function of LINC00511-PGK1 in tumorigenesis.
PGK1 modulates balance between pro- and anti-inflammatory cytokines by interacting with ITI-H4.
Title: PGK1 modulates balance between pro- and anti-inflammatory cytokines by interacting with ITI-H4.
Circular RNA circHMCU promotes breast tumorigenesis through miR-4458/PGK1 regulatory cascade.
Title: Circular RNA circHMCU promotes breast tumorigenesis through miR-4458/PGK1 regulatory cascade.

Submit: New GeneRIF Correction See all GeneRIFs (93)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency MedGen: C1970848 OMIM: 300653 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-05-26) ClinGen Genome Curation Page Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2021-05-26) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with PGK1	PubMed
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of phosphoglycerate kinase 1 (PGK1) in the nucleoli of Jurkat T-cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7497 (e-PCR)
- UniSTS:29995

RH10979 (e-PCR)
- UniSTS:51266

GDB:186156 (e-PCR)
- UniSTS:155477

RH36157 (e-PCR)
- UniSTS:26729

DXS6983E (e-PCR)
- UniSTS:38269

GDB:181567 (e-PCR)
- UniSTS:155292

RH79992 (e-PCR)
- UniSTS:86193

STS-AA069778 (e-PCR)
- UniSTS:37559

RH103161 (e-PCR)
- UniSTS:97495

RH122374 (e-PCR)
- UniSTS:138473

WI-19211 (e-PCR)
- UniSTS:78070

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphoglycerate kinase activity	EXP Inferred from Experiment more info	PubMed
enables phosphoglycerate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphoglycerate kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphoglycerate kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-disulfide reductase (NAD(P)H) activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in canonical glycolysis	TAS Traceable Author Statement more info
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in gluconeogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in gluconeogenesis	TAS Traceable Author Statement more info
involved_in glycolytic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasminogen activation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphoglycerate kinase 1

Names: PRP 2; cell migration-inducing gene 10 protein; epididymis secretory sperm binding protein Li 68p; primer recognition protein 2

NP_000282.1

EC 2.7.2.3

NCBI Reference Sequences (RefSeq)

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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.