Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for PGK1 Gene
- HGNC: 8896
- NCBI Entrez Gene: 5230
- Ensembl: ENSG00000102144
- OMIM®: 311800
- UniProtKB/Swiss-Prot: P00558
Previous GeneCards Identifiers for PGK1 Gene
- GC0XP072905
- GC0XP074321
- GC0XP075400
- GC0XP076115
- GC0XP077165
- GC0XP077246
- GC0XP070945
- GC0XP078065
- GC0XP077917
- GC0XP077919
- GC0XP077922
- GC0XP077925
- GC0XP077913
- GC0XP077915
- GC0XP077928
Summaries 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 Glucose metabolism and Cori Cycle. 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
-
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). 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).
Additional gene information for PGK1 Gene
- HGNC (8896)
- NCBI Entrez Gene (5230)
- Ensembl (ENSG00000102144)
- OMIM® (311800)
- UniProtKB/Swiss-Prot (P00558)
- Open Targets Platform(ENSG00000102144)
- Monarch Initiative
- Search for PGK1 at DataMed
- Search for PGK1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PGK1
- 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
Latest Assembly
- chrX:77,910,739-78,129,295
- (GRCh38/hg38)
- Size:
- 218,557 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:77,359,745-77,384,792
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 25,048 bases
- Orientation:
- Plus strand
- chrX:77,320,685-77,384,793
- (GRCh37/hg19 by Ensembl)
- 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:
-
- Xq21.1 by HGNC
- Xq21.1 by Entrez Gene
- Xq21.1 by Ensembl
PGK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for PGK1 Gene
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
Other Protein References for PGK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences PGK1 / Phosphoglycerate Kinase Antibody
- G Biosciences Immunotag™ PGK1 Antibody
- GeneTex Anti-PGK1 antibody and Anti-PGK1 antibody [N1C1]
- NSJ Bioreagents PGK1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for PGK1
- Novus Biologicals Antibodies for PGK1
-
Abcam antibodies for PGK1
- Invitrogen Antibodies for PGK1 (AFLGC-PGK1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for PGK1
Protein products for research
- G Biosciences Human PGK1/PGKA, Liquid
- Search Origene for MassSpec and Protein Over-expression Lysates for PGK1
- Origene Custom Protein Services for PGK1
- Sino Biological Recombinant Proteins for PGK1
- Sino Biological Cell Lysates for PGK1
- ProSpec Recombinant Proteins for PGK1
-
ProSci Proteins for PGK1
-
Abcam proteins for PGK1
Assay products for research
-
Abcam assays 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
- InterPro:
- Blocks:
-
- Phosphoglycerate kinase
- 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- Family:
-
- Belongs to the phosphoglycerate kinase family.
Function for PGK1 Gene
Molecular function for PGK1 Gene
- UniProtKB/Swiss-Prot 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). 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=(2R)-3-phosphoglycerate + ATP = (2R)-3-phospho-glyceroyl phosphate + ADP; Xref=Rhea:RHEA:14801, ChEBI:CHEBI:30616, ChEBI:CHEBI:57604, ChEBI:CHEBI:58272, ChEBI:CHEBI:456216; EC=2.7.2.3; Evidence={ECO:0000269|PubMed:30323285, ECO:0000269|PubMed:7391028};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Specifically inhibited by heterocyclic compound CBR-470-0.
- GENATLAS Biochemistry:
- phosphoglycerate kinase 1,glycolysis,energy pathway,key enzyme for ATP generation
Enzyme Numbers (IUBMB) for PGK1 Gene
Phenotypes From GWAS Catalog for PGK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0004618 | phosphoglycerate kinase activity | IMP,ISS | -- |
| GO:0005515 | protein binding | IPI | 20392205 |
| GO:0005524 | ATP binding | IBA,ISS | -- |
| GO:0016301 | kinase activity | IEA | -- |
Phenotypes for PGK1 Gene
- GenomeRNAi human phenotypes for PGK1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability ratio
- Decreased vesicular stomatitis virus (VSV) infection
- Increased epidermal growth factor (EGF) endocytosis
- Decreased shRNA abundance
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased cell proliferation
- Increased viability
- Transferrin accumulation in small spots in the cell periphery, transferrin accumulation in enlarged cytoplasmic structures
- Decreased simian virus 40 (SV40) infection
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PGK1 - Starting at $85 >
- * PGK1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PGK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PGK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGK1
miRNA for PGK1 Gene
- miRTarBase miRNAs that target PGK1
-
- hsa-miR-18a-3p (MIRT040970)
- hsa-miR-324-5p (MIRT043151)
- hsa-miR-20a-5p (MIRT050550)
- hsa-miR-141-3p (MIRT176151)
- hsa-miR-200a-3p (MIRT176153)
- hsa-miR-548c-3p (MIRT176163)
- hsa-miR-3185 (MIRT176177)
- hsa-miR-548n (MIRT329668)
- hsa-miR-548t-5p (MIRT329669)
- hsa-miR-548at-5p (MIRT329670)
- hsa-miR-548az-5p (MIRT329671)
- hsa-miR-27b-5p (MIRT445725)
- hsa-miR-5582-3p (MIRT445726)
- hsa-miR-3646 (MIRT445727)
- hsa-miR-548x-3p (MIRT445728)
- hsa-miR-548j-3p (MIRT445729)
- hsa-miR-548aq-3p (MIRT445730)
- hsa-miR-548am-3p (MIRT445731)
- hsa-miR-548aj-3p (MIRT445732)
- hsa-miR-548ah-3p (MIRT445733)
- hsa-miR-548ae-3p (MIRT445734)
- hsa-miR-610 (MIRT528392)
- hsa-miR-570-3p (MIRT528393)
- hsa-miR-4744 (MIRT528394)
- hsa-miR-548b-3p (MIRT528395)
- hsa-miR-186-5p (MIRT528396)
- hsa-miR-3133 (MIRT528397)
- hsa-miR-96-5p (MIRT544139)
- hsa-miR-6835-3p (MIRT544140)
- hsa-miR-548e-5p (MIRT544141)
- hsa-miR-6878-3p (MIRT622779)
- hsa-miR-6783-3p (MIRT622780)
- hsa-miR-1343-3p (MIRT622781)
- hsa-miR-6744-3p (MIRT622782)
- hsa-miR-4757-5p (MIRT622783)
- hsa-miR-4707-3p (MIRT622784)
- hsa-miR-6506-5p (MIRT622785)
- hsa-miR-619-5p (MIRT622786)
- hsa-miR-324-3p (MIRT622787)
- hsa-miR-1913 (MIRT622788)
- hsa-miR-212-5p (MIRT622789)
- hsa-miR-6742-3p (MIRT622790)
- hsa-miR-6852-5p (MIRT622791)
- hsa-miR-125a-3p (MIRT622792)
- hsa-miR-6838-3p (MIRT622793)
- hsa-miR-6507-3p (MIRT622794)
- hsa-miR-4646-3p (MIRT717320)
- hsa-miR-4433b-5p (MIRT717321)
- hsa-miR-6509-3p (MIRT717322)
- hsa-miR-4433a-5p (MIRT717323)
- hsa-miR-6882-3p (MIRT717324)
- hsa-miR-3189-5p (MIRT717325)
- hsa-miR-5699-5p (MIRT717326)
- hsa-miR-4758-3p (MIRT717327)
- hsa-miR-6845-3p (MIRT717328)
- hsa-miR-4286 (MIRT717329)
- hsa-miR-1273g-3p (MIRT717330)
- hsa-miR-181a-2-3p (MIRT717331)
- hsa-miR-19b-3p (MIRT726963)
- hsa-miR-19a-3p (MIRT726964)
- hsa-let-7f-2-3p (MIRT783033)
- hsa-miR-1185-1-3p (MIRT783111)
- hsa-miR-1185-2-3p (MIRT783113)
- hsa-miR-5683 (MIRT787737)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PGK1
- Browse OriGene Inhibitory RNA Products For PGK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGK1
Clone products for research
- Applied Biological Materials (abm): Clones for PGK1 - Starting at $45 >
- * PGK1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PGK1
- Addgene plasmids for PGK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for 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.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytosol | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| 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 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PGK1 Gene
Pathways & Interactions for PGK1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.52
.46
|
.35
.01
|
| 2 | Carbon metabolism | ||
| 3 | Metabolism |
.40
|
|
| 4 | HIF-1 signaling pathway | ||
| 5 | Abacavir Pathway, Pharmacokinetics/Pharmacodynamics | ||
Pathways by source for PGK1 Gene
8 BioSystems pathways for PGK1 Gene
5 Reactome pathways for PGK1 Gene
2 PharmGKB pathways for PGK1 Gene
5 KEGG pathways for PGK1 Gene
1 GeneGo (Thomson Reuters) pathway for PGK1 Gene
- Glycolysis and gluconeogenesis (short map)
UniProtKB/Swiss-Prot P00558-PGK1_HUMAN
- Pathway: Carbohydrate degradation; glycolysis; pyruvate from D-glyceraldehyde 3-phosphate: step 2/5.
Interacting Proteins for PGK1 Gene
Selected Interacting proteins:
P00558-PGK1_HUMAN
ENSP00000362413
for PGK1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PGK1
| 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 |
Drugs & Compounds for PGK1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Acyclovir | Approved | Pharma | Enzyme, substrate | 124 | ||
| Copper | Approved, Investigational | Pharma | Target | 271 | ||
| Lamivudine | Approved, Investigational | Pharma | Enzyme, substrate | Nucleoside analog reverse transcriptase inhibitor | 724 | |
| 3-Phosphoglyceric acid | Experimental | Pharma | Target | 0 | ||
| Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2-Phosphoglyceric acid |
|
2553-59-5 |
|
|||
| ADP |
|
58-64-0 |
|
|||
| Glyceric acid 1,3-biphosphate |
|
38168-82-0 |
|
Drug products for research
- G Biosciences Human PGK1/PGKA, Liquid
Transcripts for PGK1 Gene
mRNA/cDNA for PGK1 Gene
- 1 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000373316 4812 nts (view in UCSC)
- ENST00000474281 307 nts (view in UCSC)
- ENST00000476531 960 nts (view in UCSC)
- ENST00000477335 353 nts (view in UCSC)
- ENST00000491291 702 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PGK1 - Starting at $85 >
- * PGK1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PGK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PGK1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGK1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PGK1
- Browse OriGene Inhibitory RNA Products For PGK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGK1
Clone products for research
- Applied Biological Materials (abm): Clones for PGK1 - Starting at $45 >
- * PGK1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PGK1
- Addgene plasmids for PGK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PGK1
| 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
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PGK1
SOURCE GeneReport for Unigene cluster for PGK1 Gene:
Hs.78771mRNA 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
- Heart(5)
- Nervous system(5)
- Skin(5)
- Liver(5)
- Blood(4.9)
- Intestine(4.8)
- Kidney(4.7)
- Lung(4.7)
- Eye(4.4)
- Muscle(4.4)
- Stomach(4.1)
- Pancreas(3.5)
- Bone marrow(3.1)
- Lymph node(3)
- Spleen(3)
- Thyroid gland(3)
- Adrenal gland(2.9)
- Bone(2.3)
- Gall bladder(2.2)
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
Primer products for research
-
OriGene qPCR primer pairs for PGK1
-
OriGene qPCR primer pairs and template standards for PGK1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PGK1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pgk1-rs7 31 |
|
OneToMany | |
| Pgk1 30 17 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | PGK1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PGK1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pgk1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | PGK1 30 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pgk1 30 |
|
||
| Str.6909 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | pgk1-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pgk1 30 31 |
|
OneToMany | |
| Dr.898 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.365 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pgk 30 31 32 |
|
ManyToMany | |
| CG9961 31 32 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008802 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | T03F1.3 32 |
|
|
|
| pgk-1 30 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PGK1 30 31 33 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL038C 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A11011g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G56190 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU07914 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pgk1 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7747 30 |
|
- 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 Squirt (Ciona savignyi)
- 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
Variants for PGK1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PGK1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 973436 | Likely Benign: Phosphoglycerate kinase 1 deficiency | 78,113,865(+) |
C/T NM_000291.4(PGK1):c.238C>T (p.Pro80Ser) |
MISSENSE | |
| rs1057524140 | Likely Pathogenic: not provided | 78,113,812(+) |
G/A NM_000291.4(PGK1):c.185G>A (p.Ser62Asn) |
MISSENSE | |
| rs1060499671 | Uncertain Significance: Profound global developmental delay; Epileptic encephalopathy | 78,123,355(+) |
G/T NM_000291.4(PGK1):c.917G>T (p.Gly306Val) |
MISSENSE | |
| rs113112273 | Benign: not provided | 78,124,580(+) |
A/G NM_000291.4(PGK1):c.937-294A>G |
INTRON | |
| rs1161966279 | Uncertain Significance: not provided | 78,114,069(+) |
C/T NM_000291.4(PGK1):c.326C>T (p.Ala109Val) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| phosphoglycerate kinase 1 deficiency |
|
|
| male infertility due to obstructive azoospermia |
|
|
| hemolytic anemia |
|
|
| menkes disease |
|
|
| myoglobinuria |
|
|
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 variants 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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
Publications for PGK1 Gene
- 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
- 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
- A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency. (PMID: 7391028) Fujii H … Yoshida A (The Journal of biological chemistry 1980) 3 4 74
- Genomic assessment of follicular marker genes as pregnancy predictors for human IVF. (PMID: 19778949) Hamel M … Sirard MA (Molecular human reproduction 2010) 3 23
- 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
ExternalLinks
Products for PGK1 Gene
- Custom Antibody ServicesOriGene Antibodies for PGK1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PGK1
- Origene Custom Protein Services for PGK1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PGK1
- Browse OriGene Inhibitory RNA Products For PGK1
- OriGene qPCR primer pairs for PGK1
- OriGene qPCR primer pairs and template standards for PGK1
- OriGene CRISPR knockouts for PGK1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PGK1
- Sino Biological Human cDNA Clone for PGK1
- Sino Biological Recombinant Proteins for PGK1
- Sino Biological Cell Lysates for PGK1
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PGK1
- Novus Biologicals proteins and lysates for PGK1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PGK1
- Abcam proteins for PGK1
- Abcam assays for PGK1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for PGK1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PGK1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PGK1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PGK1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PGK1
- Addgene plasmids for PGK1
- antibodies-online: Show 43 available PGK1 Antibodies ranked by validation data
- Compare Top PGK1 Antibodies
- antibodies-online: Show 22 available PGK1 Elisa Kits ranked by validation data
- Compare Top PGK1 Elisa Kits
- antibodies-online: Show 31 available PGK1 Proteins ranked by validation data
- Compare Top PGK1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PGK1
- Search Santa Cruz Biotechnology (SCBT) for PGK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PGK1
- Custom Antibody ServicesProSci Antibodies for PGK1
- ProSci Proteins for PGK1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PGK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PGK1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PGK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGK1
Sources for PGK1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB