Aliases for PGK1 Gene
Aliases for PGK1 Gene
External Ids for PGK1 Gene
- HGNC: 8896
- Entrez Gene: 5230
- Ensembl: ENSG00000102144
- OMIM: 311800
- UniProtKB: P00558
Previous GeneCards Identifiers for PGK1 Gene
- GC0XP072905
- GC0XP074321
- GC0XP075400
- GC0XP076115
- GC0XP077165
- GC0XP077246
- GC0XP070945
- GC0XP078065
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 Menkes Disease. Among its related pathways are Cori Cycle and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. Gene Ontology (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).
Additional gene information for PGK1 Gene
- Monarch Initiative
- Search for PGK1 at DataMed
- Search for PGK1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGK1 Gene
Genomics for PGK1 Gene
GeneHancer (GH) Regulatory Elements for PGK1 Gene
Promoters and enhancers for PGK1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH0XJ078102 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 650.1 | +194.3 | 194315 | 4.6 | HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B | GC0XP078105 GC0XP078104 PGK1 TAF9B CYSLTR1 FGF16 GC0XM078130 GC0XM078131 GC0XM078132 | |
| GH0XJ077909 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 650.7 | +0.7 | 682 | 3.5 | MLX ARID4B SIN3A DMAP1 YY1 GTF3C2 GLIS2 ELK1 ZNF143 RUNX3 | PGK1 ENSG00000248503 ATP7A LOC101241901 | |
| GH0XJ077936 | Enhancer | 0.8 | ENCODE | 0.3 | +27.0 | 27002 | 2 | RFX5 TCF12 FOS CEBPB SP1 MAFF SMARCA4 STAT3 MEIS2 TAL1 | LOC101241901 ATP7A PGK1 ENSG00000248503 | |
| GH0XJ077917 | Enhancer | 0.5 | Ensembl | 0.4 | +6.8 | 6762 | 0.2 | ZNF687 FOXA2 RXRA FOXA3 CEBPA NR2F1 FOXA1 | ATP7A ENSG00000248503 PGK1 LOC101241901 | |
| GH0XJ077952 | Enhancer | 0.5 | ENCODE | 0.3 | +42.7 | 42687 | 1 | ZNF316 MAFG NFE2 EMSY MAFK | LOC101241901 ENSG00000248503 ATP7A PGK1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PGK1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PGK1 gene promoter:
-
- XBP-1
- C/EBPalpha
- E4BP4
- NF-Y
- CBF(2)
- Hand1
- E47
- Evi-1
- C/EBPbeta
- RP58
Regulatory Element Products
Genomic Locations for PGK1 Gene
Genomic Locations for PGK1 Gene
- chrX:77,910,739-78,129,296
- (GRCh38/hg38)
- Size:
- 218,558 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:
-
- Xq21.1 by Entrez Gene
- Xq21.1 by HGNC
- 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
Post-translational modifications for PGK1 Gene
Other Protein References for PGK1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PGK1 (PGK1)
-
Custom Antibody ServicesOriGene Antibodies for PGK1
- Novus Biologicals Antibodies for PGK1
-
Abcam antibodies for PGK1
- Invitrogen Antibodies for PGK1
- GeneTex PGK1 Antibody for PGK1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PGK1
Protein Products
- R&D Systems Proteins and Enzymes for PGK1
-
OriGene Purified Proteins for PGK1
- Search Origene for MassSpec and Protein Over-expression Lysates for PGK1
- Origene Custom Protein Services for PGK1
- Sino Biological Cell Lysates for PGK1
- Sino Biological Recombinant Proteins for PGK1
- ProSpec Recombinant Proteins for PGK1
- GeneTex Proteins for PGK1
-
ProSci Proteins for PGK1
-
Abcam proteins for PGK1
Assay Products
-
Abcam assays for PGK1
No data available for DME Specific Peptides for PGK1 Gene
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:
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:
- 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:
- ATP + 3-phospho-D-glycerate = ADP + 3-phospho-D-glyceroyl phosphate.
- GENATLAS Biochemistry:
- phosphoglycerate kinase 1,glycolysis,energy pathway,key enzyme for ATP generation
Enzyme Numbers (IUBMB) for PGK1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004618 | phosphoglycerate kinase activity | ISS,IMP | -- |
| GO:0005515 | protein binding | IPI | 20392205 |
| GO:0005524 | ATP binding | ISS | -- |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for PGK1 Gene
- GenomeRNAi human phenotypes for PGK1:
-
- Decreased viability ratio
- Decreased cell proliferation
- Decreased viability
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Increased transferrin (TF) endocytosis
- Increased simian virus 40 (SV40) infection
- Decreased shRNA abundance
- Transferrin accumulation in the perinuclear area
- Decreased vesicular stomatitis virus (VSV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PGK1
-
CRISPR Products
-
OriGene CRISPR knockouts for PGK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PGK1
- genomics-online: gRNA clones - Search results for available PGK1 gene related products
- Applied Biological Materials CRISPR for PGK1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGK1
- GenScript: Design CRISPR guide RNA sequences 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
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available PGK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PGK1
- VectorBuilder custom plasmid, inducible vectors for PGK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PGK1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PGK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PGK1
- genomics-online: cdna clones - Search results for available PGK1 gene related products
- orf clones - Search results for available PGK1 gene related products
- Applied Biological Materials Clones for PGK1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| lysosome | 1 |
| 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 |
.52
.46
|
.35
.01
|
| 2 | Carbon metabolism | ||
| 3 | Metabolism |
.37
|
|
| 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
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
STRING
MINT
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 |
No data available for SIGNOR curated interactions for PGK1 Gene
Drugs & Compounds for PGK1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Copper | Approved, Investigational | Pharma | Target | 202 | ||
| Dihydroartemisinin | Approved, Investigational | Pharma | Target, ligand | 100 | ||
| Lamivudine | Approved, Investigational | Pharma | Enzyme, substrate | Nucleoside analog reverse transcriptase inhibitor | 638 | |
| 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 |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
||
| Glyceric acid 1,3-biphosphate |
|
1981-49-3 |
|
Transcripts for PGK1 Gene
mRNA/cDNA for PGK1 Gene
- (1) REFSEQ mRNAs :
- (21) Additional mRNA sequences :
- (6) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000644362 2405 bps
- ENST00000477335 353 bps (uc065aby.1)
- ENST00000491291 702 bps (uc065abz.1)
- ENST00000373316 4887 bps (uc004ecz.5)
- ENST00000474281 307 bps (uc065aca.1)
Unigene Clusters for PGK1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PGK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PGK1
- genomics-online: gRNA clones - Search results for available PGK1 gene related products
- Applied Biological Materials CRISPR for PGK1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PGK1
- GenScript: Design CRISPR guide RNA sequences for PGK1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for available PGK1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for PGK1
- VectorBuilder custom plasmid, inducible vectors for PGK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PGK1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PGK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PGK1
- genomics-online: cdna clones - Search results for available PGK1 gene related products
- orf clones - Search results for available PGK1 gene related products
- Applied Biological Materials Clones for PGK1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of PGK1 Gene:
PGK1SOURCE 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
- 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
Primer Products
-
OriGene qPCR primer pairs and template standards for PGK1
-
OriGene qPCR primer pairs for PGK1
- genomics-online: primer clones - Search results for available PGK1 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PGK1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pgk1-rs7 34 |
|
OneToMany | |
| Pgk1 16 34 33 |
|
||||
| cow (Bos Taurus) |
Mammalia | PGK1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PGK1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Pgk1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | PGK1 34 33 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pgk1 33 |
|
||
| Str.6909 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | pgk1-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pgk1 34 33 |
|
OneToMany | |
| Dr.898 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.365 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Pgk 34 35 33 |
|
ManyToMany | |
| CG9961 34 35 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008802 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | T03F1.3 35 |
|
|
|
| pgk-1 34 33 |
|
OneToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PGK1 36 34 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AEL038C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A11011g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G56190 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU07914 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pgk1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.7747 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.7747 33 |
|
- 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
Variants 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 |
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 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
(8) MalaCards diseases for PGK1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| phosphoglycerate kinase 1 deficiency |
|
|
| menkes disease |
|
|
| hemolytic anemia |
|
|
| phosphoglycerate kinase deficiency |
|
|
| retinitis pigmentosa 9 |
|
|
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
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 58
- 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 58
- 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 22 58
- Genomic assessment of follicular marker genes as pregnancy predictors for human IVF. (PMID: 19778949) Hamel M … Sirard MA (Molecular human reproduction 2010) 3 22 58
- Phosphoglycerate kinase 1 a promoting enzyme for peritoneal dissemination in gastric cancer. (PMID: 19688824) Zieker D … Königsrainer A (International journal of cancer 2010) 3 22 58
Products for PGK1 Gene
- R&D Systems Antibodies for PGK1 (PGK1)
- R&D Systems Proteins and Enzymes for PGK1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping of latest version cDNA ORF clones for PGK1 in any vector
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- Sino Biological Human cDNA Clone for PGK1
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- High-throughput Antibody Production Service
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- Novus Biologicals
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- ProSpec Recombinant Proteins for PGK1
- Cyagen custom Knockout/knockin (KOKI) mouse models for PGK1
- VectorBuilder custom plasmid, inducible vectors for PGK1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PGK1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for PGK1
- antibodies-online: Search results for 140 available PGK1 Antibodies ranked by validation data
- Compare Top PGK1 Antibodies
- antibodies-online: Search results for 19 available PGK1 Elisa Kits ranked by validation data
- Compare Top PGK1 Elisa Kits
- antibodies-online: Search results for 34 available PGK1 Proteins ranked by validation data
- Compare Top PGK1 Proteins
- GeneTex PGK1 Antibody for PGK1
- GeneTex Proteins for PGK1
- Santa Cruz Biotechnology (SCBT) Antibodies for PGK1
- Search Santa Cruz Biotechnology (SCBT) for PGK1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PGK1
- Search for PGK1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for PGK1
- genomics-online: cdna clones - Search results for available PGK1 gene related products
- orf clones - Search results for available PGK1 gene related products
- genomics-online: gRNA clones - Search results for available PGK1 gene related products
- genomics-online: primer clones - Search results for available PGK1 gene related products
- genomics-online: shRNA clones - Search results for available PGK1 gene related products
- 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
- GeneCopoeia 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) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt