Aliases for PFKP Gene
Aliases for PFKP Gene
External Ids for PFKP Gene
- HGNC: 8878
- Entrez Gene: 5214
- Ensembl: ENSG00000067057
- OMIM: 171840
- UniProtKB: Q01813
Previous GeneCards Identifiers for PFKP Gene
- GC10P003157
- GC10P003069
- GC10P003063
- GC10P003099
- GC10P003045
- GC10P003109
Summaries for PFKP Gene
-
This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GeneCards Summary for PFKP Gene
PFKP (Phosphofructokinase, Platelet) is a Protein Coding gene. Diseases associated with PFKP include Glycogen Storage Disease Vii. Among its related pathways are Glucose metabolism and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include 6-phosphofructokinase activity. An important paralog of this gene is PFKM.
UniProtKB/Swiss-Prot for PFKP Gene
-
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.
Additional gene information for PFKP Gene
- Monarch Initiative
- Search for PFKP at DataMed
- Search for PFKP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKP Gene
Genomics for PFKP Gene
GeneHancer (GH) Regulatory Elements for PFKP Gene
Promoters and enhancers for PFKP 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10J003066 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 609.4 | +1.8 | 1792 | 4.3 | ZFX NKRF MLLT1 ZNF121 ZNF687 MYC ZBTB7A YY1 SP7 POLR2A | PFKP LOC101927824 ENSG00000273001 | |
| GH10J003064 | Enhancer | 0.4 | Ensembl | 609.3 | -1.4 | -1432 | 0.6 | SCRT2 SCRT1 EBF1 | PFKP ENSG00000273001 LOC101927824 ENSG00000234182 | |
| GH10J003089 | Enhancer | 1.5 | FANTOM5 ENCODE dbSUPER | 20.4 | +27.5 | 27546 | 8.1 | ZNF652 ZKSCAN8 CBFA2T2 MLLT1 CEBPG NCOA3 BACH1 MAFK NCOA6 TRIM24 | GC10P003095 PFKP PITRM1 PITRM1-AS1 LOC101927824 | |
| GH10J003102 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE dbSUPER | 13.9 | +37.5 | 37519 | 2.3 | SP1 JUND HNF4A RXRA ZFX HNF4G | GC10P003101 PFKP PITRM1-AS1 PITRM1 GC10P003095 PIR36518 | |
| GH10J003053 | Enhancer | 1 | Ensembl ENCODE | 9.1 | -10.7 | -10696 | 5.3 | CBFA2T2 TRIM24 PRDM1 SMARCA4 IKZF1 DPF2 ZSCAN4 ZNF316 EP300 SCRT2 | PFKP LOC101927824 ENSG00000273001 ENSG00000234182 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PFKP on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PFKP gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- IRF-2
- MZF-1
- Pax-5
- Sp1
Genomic Locations for PFKP Gene
Genomic Locations for PFKP Gene
- chr10:3,066,333-3,137,718
- (GRCh38/hg38)
- Size:
- 71,386 bases
- Orientation:
- Plus strand
- chr10:3,108,525-3,179,904
- (GRCh37/hg19)
- Size:
- 71,380 bases
- Orientation:
- Plus strand
Genomic View for PFKP Gene
Genes around PFKP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p15.2 by HGNC
- 10p15.2 by Entrez Gene
- 10p15.2 by Ensembl
PFKP 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 PFKP Gene
Proteins for PFKP Gene
-
Protein details for PFKP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q01813-PFKAP_HUMAN
- Recommended name:
- ATP-dependent 6-phosphofructokinase, platelet type
- Protein Accession:
- Q01813
- B3KS15
- Q5VSR7
- Q5VSR8
Protein attributes for PFKP Gene
- Size:
- 784 amino acids
- Molecular mass:
- 85596 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Homo- and heterotetramers (By similarity). Phosphofructokinase (PFK) enzyme functions as a tetramer composed of different combinations of 3 types of subunits, called PFKM (where M stands for Muscle), PFKL (Liver) and PFKP (Platelet). The composition of the PFK tetramer differs according to the tissue type it is present in. In muscles, it is composed of 4 PFKM subunits (also called M4). In the liver, the predominant form is a tetramer of PFKL subunits (L4). In erythrocytes, both PFKM and PFKL subunits randomly tetramerize to form M4, L4 and other combinations (ML3, M2L2, M3L). In platelets, brain and fibroblasts, PFK contains a higher proportion of PFKP subunits. The kinetic and regulatory properties of the tetrameric enzyme are dependent on the subunit composition, hence can vary across tissues (Probable).
- Miscellaneous:
-
- In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.
Three dimensional structures from OCA and Proteopedia for PFKP Gene
Protein Expression for PFKP Gene
Selected DME Specific Peptides for PFKP Gene
- Q01813:
-
- EVMGRHCG
- QWWLKLRP
- RKNVLGHMQQGG
- EWSGLLEELA
- TPDTPACVV
- VLTSGGD
- RMGIYVGAKV
- VGGWTGQGGS
- GTKRRVFI
- IIIVAEG
- GMNAAVR
- IIGGFEA
- GGTIIGSAR
- TILGHVQRGG
- AMDERRF
- GADAAYI
- VGSIDND
- CGYLALV
- GHVQRGG
- GITNLCVIGG
- VRLPLMECVQ
- QNKPITSEKIKELVV
- CGADWVFLPESPPEE
- ALHRIIE
- NYTTDFI
- IQRGLVLRNE
- FQPVAELK
- PATVSNNVPGSDFS
- QRGGTPS
- DRILASR
- AAREKHE
- VGAPAAGMN
- REGRLKAACNL
- GGDGSLTGA
- VVRMGIY
- LPGKYLE
- GADTALNTI
- CDRIKQSA
Post-translational modifications for PFKP Gene
- GlcNAcylation decreases enzyme activity.
- Ubiquitination at isoforms=2395, isoforms=2139, posLast=666666, posLast=289289, isoforms=2759, isoforms=2109, posLast=459459, isoforms=2400, posLast=2525, posLast=765765, posLast=408408, isoforms=2688, isoforms=2486, isoforms=2480, and isoforms=15
- Glycosylation at isoforms=2540
- Modification sites at PhosphoSitePlus
Other Protein References for PFKP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-PFKP Antibody (HPA018257) and Anti-PFKP Antibody (HPA056484)
- Novus Biologicals Antibodies for PFKP
-
Abcam antibodies for PFKP
- Invitrogen Antibodies for PFKP (AFLGC-PFKP)
-
Boster Bio Antibodies for PFKP
-
Santa Cruz Biotechnology (SCBT) Antibodies for PFKP
- Sino Biological Antibodies for PFKP
Protein Products
- Atlas Antibodies PrEST Antigen PFKP (APrEST74615) and PrEST Antigen PFKP (APrEST89777)
-
OriGene Purified Proteins for PFKP
- Search Origene for MassSpec and Protein Over-expression Lysates for PFKP
- Origene Custom Protein Services for PFKP
- Sino Biological Recombinant Proteins for PFKP
- Sino Biological Cell Lysates for PFKP
-
Abcam proteins for PFKP
Assay Products
- Aviva Systems Biology K6PP Colorimetric Cell-Based ELISA Kit (OKAG01290), PFKP ELISA Kit (Human) (OKCD02798), and PFKP ELISA Kit (Human) (OKEH07106)
-
Boster Bio ELISA Kits for PFKP
Domains & Families for PFKP Gene
Gene Families for PFKP Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for PFKP Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PFKP Gene
- GenScript: Design optimal peptide antigens:
-
- Phosphofructokinase, platelet (B1APP7_HUMAN)
- cDNA FLJ40373 fis, clone TESTI2035003, highly similar to 6-phosphofructokinase type C (EC 2.7.1.11) (B1APP8_HUMAN)
- Phosphofructokinase, platelet (B1APP9_HUMAN)
- Phosphohexokinase (K6PP_HUMAN)
- Phosphofructokinase-P (O14943_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q01813UniProtKB/Swiss-Prot:
PFKAP_HUMAN :- Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
- Domain:
-
- Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
Function for PFKP Gene
Molecular function for PFKP Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6-bisphosphate + H(+); Xref=Rhea:RHEA:16109, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:32966, ChEBI:CHEBI:57634, ChEBI:CHEBI:456216; EC=2.7.1.11; Evidence=. ;.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate.
- GENATLAS Biochemistry:
- 6-phosphofructo-1-kinase,expressed in platelet,fructose metabolism,energy pathway
Enzyme Numbers (IUBMB) for PFKP Gene
Phenotypes From GWAS Catalog for PFKP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0003872 | 6-phosphofructokinase activity | TAS,IEA | 1834056 |
| GO:0005524 | ATP binding | IEA,IBA | 21873635 |
| GO:0016208 | AMP binding | IBA | 21873635 |
| GO:0016301 | kinase activity | IEA | -- |
Phenotypes for PFKP Gene
- GenomeRNAi human phenotypes for PFKP:
-
- Condensed cis-Golgi
- Decreased cell proliferation
- Decreased viability after gemcitabine stimulation
- Increased circadian period length
- Decreased viability
- no effect
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Increased vaccinia virus (VACV) infection
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
- Increased simian virus 40 (SV40) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PFKP
-
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PFKP - Now 50% OFF >
- * PFKP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * PFKP CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for PFKP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PFKP
- genomics-online: gRNA clones - Search results for 135 available PFKP gene related products
- Overview of 135 available PFKP gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for PFKP
miRNA for PFKP Gene
- miRTarBase miRNAs that target PFKP
-
- hsa-mir-520a-3p (MIRT007336)
- hsa-mir-520b (MIRT007337)
- hsa-mir-520e (MIRT007338)
- hsa-mir-26b-5p (MIRT030323)
- hsa-mir-455-3p (MIRT037818)
- hsa-mir-615-3p (MIRT039986)
- hsa-mir-193b-3p (MIRT041540)
- hsa-mir-17-5p (MIRT056475)
- hsa-mir-20a-5p (MIRT056476)
- hsa-mir-93-5p (MIRT056477)
- hsa-mir-106a-5p (MIRT056478)
- hsa-mir-142-5p (MIRT056479)
- hsa-mir-106b-5p (MIRT056480)
- hsa-mir-302a-3p (MIRT056481)
- hsa-mir-302b-3p (MIRT056482)
- hsa-mir-302c-3p (MIRT056483)
- hsa-mir-302d-3p (MIRT056484)
- hsa-mir-372-3p (MIRT056485)
- hsa-mir-373-3p (MIRT056486)
- hsa-mir-20b-5p (MIRT056487)
- hsa-mir-512-3p (MIRT056488)
- hsa-mir-526b-3p (MIRT056490)
- hsa-mir-520c-3p (MIRT056492)
- hsa-mir-519d-3p (MIRT056493)
- hsa-mir-520d-3p (MIRT056494)
- hsa-mir-595 (MIRT056496)
- hsa-mir-302e (MIRT056498)
- hsa-mir-3163 (MIRT056499)
- hsa-mir-4536-3p (MIRT056500)
- hsa-mir-5590-3p (MIRT056501)
- hsa-mir-6082 (MIRT056502)
- hsa-mir-8075 (MIRT506227)
- hsa-mir-4796-3p (MIRT506228)
- hsa-mir-548ah-5p (MIRT506229)
- hsa-mir-3609 (MIRT506230)
- hsa-mir-524-5p (MIRT535361)
- hsa-mir-520d-5p (MIRT535362)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for PFKP
- Browse OriGene Inhibitory RNA Products For PFKP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKP
- genomics-online: shRNA clones - Search results for 135 available PFKP gene related products
- Overview of 135 available PFKP gene related products
Clone Products
- Applied Biological Materials (abm): Clones for PFKP - Now 50% OFF >
- * PFKP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * PFKP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG210641
- MR210641
- MR210641L1
- MR210641L1V
- MR210641L2
- MR210641L2V
- MR210641L3
- MR210641L3V
- MR210641L4
- MR210641L4V
- MR231141
- RC200673
- RC200673L1
- RC200673L1V
- RC200673L2
- RC200673L2V
- RC200673L3
- RC200673L3V
- RC200673L4
- RC200673L4V
- RC239540
- RC500673
- RG200673
- RR208878
- RR208878L1
- RR208878L1V
- RR208878L2
- RR208878L2V
- RR208878L3
- RR208878L3V
- RR208878L4
- RR208878L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PFKP
- Addgene plasmids for PFKP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PFKP
Cell Line Products
-
Horizon Cell Lines for PFKP
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PFKP Gene
Localization for PFKP Gene
Subcellular locations from UniProtKB/Swiss-Prot for PFKP Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005737 | cytoplasm | IDA,IEA | 25468996 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005945 | 6-phosphofructokinase complex | IBA | 21873635 |
| GO:0016020 | membrane | IBA,HDA | 21873635 |
Pathways & Interactions for PFKP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
.52
|
.01
|
| 2 | Carbon metabolism | ||
| 3 | Metabolism |
.40
|
|
| 4 | Glucose / Energy Metabolism | ||
| 5 | AMP-activated Protein Kinase (AMPK) Signaling | ||
Pathways by source for PFKP Gene
4 BioSystems pathways for PFKP Gene
4 Reactome pathways for PFKP Gene
11 KEGG pathways for PFKP Gene
1 GeneGo (Thomson Reuters) pathway for PFKP Gene
2 Qiagen pathways for PFKP Gene
1 Cell Signaling Technology pathway for PFKP Gene
UniProtKB/Swiss-Prot Q01813-PFKAP_HUMAN
- Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.
Interacting Proteins for PFKP Gene
GPS-Prot Interaction Network for PFKP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006002 | fructose 6-phosphate metabolic process | IBA,IEA | 21873635 |
| GO:0006007 | glucose catabolic process | IBA | 21873635 |
| GO:0006096 | glycolytic process | IEA | -- |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0016310 | phosphorylation | IEA | -- |
No data available for SIGNOR curated interactions for PFKP Gene
Drugs & Compounds for PFKP Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
||
| Beta-D-Fructose 6-phosphate |
|
|
||||
| D-Tagatose 1,6-bisphosphate |
|
|
||||
| D-Tagatose 6-phosphate |
|
|
||||
| Fructose 6-phosphate |
|
643-13-0 |
|
Drug Products
- Atlas Antibodies PrEST Antigen PFKP (APrEST74615) and PrEST Antigen PFKP (APrEST89777)
Transcripts for PFKP Gene
mRNA/cDNA for PFKP Gene
- (11) REFSEQ mRNAs :
- (21) Additional mRNA sequences :
- (690) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000607886 432 bps (ENST00000607886.5)
- ENST00000381125 2626 bps (ENST00000381125.8)
- ENST00000495715 143 bps (ENST00000495715.1)
- ENST00000381075 2769 bps (ENST00000381075.6)
- ENST00000421751 658 bps (ENST00000421751.1)
Unigene Clusters for PFKP Gene
- Phosphofructokinase, platelet:
- Representative Sequences:
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PFKP - Now 50% OFF >
- * PFKP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * PFKP CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for PFKP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PFKP
- genomics-online: gRNA clones - Search results for 135 available PFKP gene related products
- Overview of 135 available PFKP gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for PFKP
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for PFKP
- Browse OriGene Inhibitory RNA Products For PFKP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKP
- genomics-online: shRNA clones - Search results for 135 available PFKP gene related products
- Overview of 135 available PFKP gene related products
Clone Products
- Applied Biological Materials (abm): Clones for PFKP - Now 50% OFF >
- * PFKP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * PFKP tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG210641
- MR210641
- MR210641L1
- MR210641L1V
- MR210641L2
- MR210641L2V
- MR210641L3
- MR210641L3V
- MR210641L4
- MR210641L4V
- MR231141
- RC200673
- RC200673L1
- RC200673L1V
- RC200673L2
- RC200673L2V
- RC200673L3
- RC200673L3V
- RC200673L4
- RC200673L4V
- RC239540
- RC500673
- RG200673
- RR208878
- RR208878L1
- RR208878L1V
- RR208878L2
- RR208878L2V
- RR208878L3
- RR208878L3V
- RR208878L4
- RR208878L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PFKP
- Addgene plasmids for PFKP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PFKP
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | · | 26c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | - | ||||||||||||||||
| SP4: | |||||||||||||||||
| SP5: | |||||||||||||||||
| SP6: | |||||||||||||||||
| SP7: | |||||||||||||||||
| SP8: |
Expression for PFKP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
- Gut Tube (Gastrointestinal Tract)
- Heart (Cardiovascular System)
-
Testis (Reproductive System)
This gene is overexpressed in Fetal heart (9.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PFKP Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PFKP Gene:
PFKPSOURCE GeneReport for Unigene cluster for PFKP Gene:
Hs.26010Evidence on tissue expression from TISSUES for PFKP Gene
- Nervous system(5)
- Pancreas(4.5)
- Eye(3.5)
- Lung(3.4)
- Kidney(3.2)
- Liver(3)
- Intestine(2.8)
- Muscle(2.8)
- Blood(2.6)
- Heart(2.6)
- Skin(2.6)
Primer Products
-
OriGene qPCR primer pairs for PFKP
-
OriGene qPCR primer pairs and template standards for PFKP
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKP Gene
Orthologs for PFKP Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PFKP 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PFKP 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PFKP 35 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Pfkp 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pfkp 17 35 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PFKP 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | PFKP 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PFKP 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PFKP 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pfkp 34 |
|
||
| MGC75635 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68847 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pfkpa 35 |
|
OneToMany | |
| pfkpb 35 34 |
|
OneToMany | |||
| Dr.12547 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Pfk 35 36 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y71H10A.1b 36 |
|
|
|
| Y71H10A.1a 36 |
|
|
|||
| pfk-1 35 |
|
ManyToMany | |||
| pfk-2 35 |
|
ManyToMany | |||
| C50F4.2 36 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AEL208W 34 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A05544g 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PFK1 35 34 |
|
ManyToMany | |
| PFK2 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany | |
| Cin.3271 34 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3271 34 |
|
- Species where no ortholog for PFKP was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for PFKP Gene
- ENSEMBL:
- Gene Tree for PFKP (if available)
- TreeFam:
- Gene Tree for PFKP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PFKP: view image
Paralogs for PFKP Gene
(6) SIMAP similar genes for PFKP Gene using alignment to 9 proteins:
- K6PP_HUMAN
- B1APP6_HUMAN
- B1APP8_HUMAN
- H0Y3Y3_HUMAN
- H0Y757_HUMAN
- Q49A78_HUMAN
- Q5VSR5_HUMAN
- V9GY25_HUMAN
- V9GYV7_HUMAN
Variants for PFKP Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs869025258 | likely-benign, Anophthalmia - microphthalmia | 3,105,466(+) | GG/GGG | coding_sequence_variant, frameshift | |
| rs1000093095 | -- | 3,118,258(+) | A/G | intron_variant | |
| rs1000187549 | -- | 3,100,310(+) | G/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000189029 | -- | 3,070,958(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000229266 | -- | 3,125,473(+) | G/A/T | intron_variant |
Residual Variation Intolerance Score:
16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.58;
44.82% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PFKP Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKP Gene
Disorders for PFKP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| glycogen storage disease vii |
|
|
Search PFKP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PFKP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PFKP Gene
Publications for PFKP Gene
- Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet. (PMID: 8117307) Eto K … Kadowaki T (Biochemical and biophysical research communications 1994) 3 4 23 58
- Isolation and sequence of a cDNA encoding human platelet phosphofructokinase. (PMID: 1834056) Simpson CJ … Fothergill-Gilmore LA (Biochemical and biophysical research communications 1991) 3 4 23 58
- Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 45 58
- Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan AR … Mitchell EA (BMC medical genetics 2010) 3 45 58
- Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) Ruaño G … Hanks S (Clinica chimica acta; international journal of clinical chemistry 2009) 3 45 58
ExternalLinks
Products for PFKP Gene
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- antibodies-online: Search results for 100 available PFKP Antibodies ranked by validation data
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- antibodies-online: Search results for 31 available PFKP Elisa Kits ranked by validation data
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- antibodies-online: Search results for 11 available PFKP Proteins ranked by validation data
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- genomics-online: cdna clones - Search results for 135 available PFKP gene related products
- Overview of 135 available PFKP gene related products
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- Overview of 135 available PFKP gene related products
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- Overview of 135 available PFKP gene related products
- genomics-online: primer clones - Search results for 135 available PFKP gene related products
- Overview of 135 available PFKP gene related products
- genomics-online: shRNA clones - Search results for 135 available PFKP gene related products
- Overview of 135 available PFKP gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PFKP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PFKP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PFKP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKP
Sources for PFKP Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) 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) UniGene
- (28) AceView
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) HGMD
- (45) GAD
- (46) BGMUT
- (47) HuGE
- (48) Atlas
- (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) OCA
- (69) Proteopedia
- (70) MOPED
- (71) neXtProt
- (72) Reactome
- (73) GeneGo (Thomson Reuters)
- (74) fRNAdb
- (75) DISEASES
- (76) SIMAP
- (77) GenomeRNAi
- (78) LifeMap
- (79) miRTarBase
- (80) MalaCards
- (81) Invitrogen
- (82) BitterDB
- (83) ESI-BIO
- (84) RefSeq
- (85) BioSystems
- (86) MaxQB
- (87) IUPHAR
- (88) BioGPS
- (89) Illumina
- (90) COMPARTMENTS
- (91) HOMER
- (92) PaxDb
- (93) ApexBio
- (94) Addgene
- (95) antibodies-online
- (96) CYP
- (97) NONCODE
- (98) SwitchGear Genomics
- (99) TreeFam
- (100) PathCards
- (101) GeneReviews
- (102) GeneTex
- (103) Taconic Biosciences
- (104) GTEx
- (105) ProteomicsDB
- (106) SCBT
- (107) DGIdb
- (108) ClinicalTrials
- (109) FDA Approved Drugs
- (110) RVIS
- (111) SIGNOR
- (112) diseasecard
- (113) NIH Rare Diseases
- (114) Orphanet
- (115) UMLS
- (116) GTR
- (117) Disease Ontology
- (118) Genetics Home Reference
- (119) MeSH
- (120) MedlinePlus
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- (123) NCBI Bookshelf
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- (125) Gene Damage Index
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- (130) FANTOM5
- (131) ENCODE
- (132) ProSci
- (133) Horizon
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- (135) IID
- (136) Cyagen
- (137) VectorBuilder
- (138) SNPedia
- (139) BRCA Exchange
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- (142) ProteoGenix
- (143) dbSUPER
- (144) TISSUES
- (145) Gene ORGANizer
- (146) abm
- (147) CrownBio
- (148) Human Protein Atlas
- (149) GWAS Catalog
- (150) Monarch Initiative
- (151) DataMed
- (152) HumanCyc
- (153) genomics-online
- (154) UCNEbase
- (155) EPDnew
- (156) Applied Biosystems
- (157) GlyConnect
- (158) Aminode
- (159) GeneCopoeia
- (160) GPS-Prot
- (161) RNACentral
- (162) LncRNADisease
- (163) LOVD
- (164) miR2Disease
- (165) DiseaseEnhancer
- (166) Boster Bio
- (167) Biorbyt
- (168) Biocompare
- (169) Mastermind