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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 result... See more...
Aliases for PFKP Gene
Aliases for PFKP Gene
External Ids for PFKP Gene
- HGNC: 8878
- NCBI Entrez Gene: 5214
- Ensembl: ENSG00000067057
- OMIM®: 171840
- UniProtKB/Swiss-Prot: 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 and Glycogen Storage Disease. Among its related pathways are Central carbon metabolism in cancer and Cori Cycle. Gene Ontology (GO) annotations related to this gene include 6-phosphofructokinase activity. An important paralog of this gene is PFKM.
UniProtKB/Swiss-Prot Summary 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
- HGNC (8878)
- NCBI Entrez Gene (5214)
- Ensembl (ENSG00000067057)
- OMIM® (171840)
- UniProtKB/Swiss-Prot (Q01813)
- Open Targets Platform(ENSG00000067057)
- Monarch Initiative
- Search for PFKP at DataMed
- Search for PFKP at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFKP Gene
Genomics for PFKP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PFKP 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 PFKP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PFKP
- 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
Latest Assembly
- chr10:3,066,333-3,137,718
- (GRCh38/hg38)
- Size:
- 71,386 bases
- Orientation:
- Plus strand
Previous Assembly
- chr10:3,109,740-3,178,997
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 69,258 bases
- Orientation:
- Plus strand
- chr10:3,108,525-3,179,904
- (GRCh37/hg19 by Ensembl)
- 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
Other Protein References for PFKP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences PFKP Antibody
- G Biosciences Immunotag™ K6PP Antibody
-
Custom Antibody ServicesOriGene Antibodies for PFKP
- AP15111PU-N
- CF503979
- CF503980
- CF503981
- CF503982
- CF503983
- CF503984
- CF503985
- CF503986
- CF503998
- CF503999
- TA312026
- TA349615
- TA503979
- TA503979S
- TA503980
- TA503980S
- TA503981
- TA503981S
- TA503982
- TA503982S
- TA503983
- TA503983S
- TA503984
- TA503984S
- TA503985
- TA503985S
- TA503986
- TA503986S
- TA503998
- TA503998S
- TA503999
- TA503999S
- Novus Biologicals Antibodies for PFKP
-
Abcam antibodies for PFKP
- Invitrogen Antibodies for PFKP (AFLGC-PFKP)
-
Santa Cruz Biotechnology (SCBT) Antibodies for PFKP
- Sino Biological Antibodies for PFKP
Protein products for research
- 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 for research
-
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
Protein Domains for PFKP Gene
- InterPro:
- Blocks:
-
- Phosphofructokinase
- 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={ECO:0000255|HAMAP-Rule:MF_03184};.
- 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:0000166 | nucleotide binding | IEA | -- |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0003872 | 6-phosphofructokinase activity | IEA,TAS | 1834056 |
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0005524 | ATP binding | IEA,IBA | 21873635 |
Phenotypes for PFKP Gene
- GenomeRNAi human phenotypes for PFKP:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased NF-kappaB reporter expression
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased circadian period length
- Decreased cell proliferation
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased viability after sindbis virus (SIN) dsTE12Q infection
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Decreased viability after gemcitabine stimulation
- Decreased simian virus 40 (SV40) infection
- Condensed trans-Golgi
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 PFKP - Starting at $85 >
- * PFKP 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 PFKP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PFKP
-
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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for PFKP - Starting at $45 >
- * PFKP 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 PFKP
- Addgene plasmids for PFKP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PFKP
Cell Lines for research
-
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 |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005737 | cytoplasm | IEA,IDA | 25468996 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005945 | 6-phosphofructokinase complex | IBA | 21873635 |
| GO:0016020 | membrane | IBA | 21873635 |
Pathways & Interactions for PFKP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.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
13 KEGG pathways for PFKP Gene
1 GeneGo (Thomson Reuters) pathway for PFKP Gene
- Glycolysis and gluconeogenesis (short map)
2 Qiagen pathways for PFKP Gene
- Akt Signaling
- AMPK Enzyme Complex Pathway
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
Selected Interacting proteins:
Q01813-PFKAP_HUMAN
ENSP00000370517
for PFKP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PFKP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006002 | fructose 6-phosphate metabolic process | IEA,IBA | 21873635 |
| GO:0006096 | glycolytic process | IEA | -- |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0016310 | phosphorylation | IEA | -- |
| GO:0030388 | fructose 1,6-bisphosphate metabolic process | IBA | 21873635 |
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 |
|
58-64-0 |
|
|||
| Beta-D-Fructose 6-phosphate |
|
|
||||
| D-Tagatose 1,6-bisphosphate |
|
|
||||
| D-Tagatose 6-phosphate |
|
|
||||
| Fructose 1,6-bisphosphate |
|
34693-15-7 |
|
Transcripts for PFKP Gene
mRNA/cDNA for PFKP Gene
- 11 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000381072 1698 nts (view in UCSC)
- ENST00000381075 2741 nts (view in UCSC)
- ENST00000381125 2626 nts (view in UCSC)
- ENST00000407806 705 nts (view in UCSC)
- ENST00000413079 496 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PFKP - Starting at $85 >
- * PFKP 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 PFKP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PFKP
-
Santa Cruz Biotechnology (SCBT) CRISPR for PFKP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for PFKP - Starting at $45 >
- * PFKP 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 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: |
Relevant External Links for PFKP Gene
- GeneLoc Exon Structure for
- PFKP
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PFKP
SOURCE GeneReport for Unigene cluster for PFKP Gene:
Hs.26010Evidence on tissue expression from TISSUES for PFKP Gene
- Nervous system(5)
- Pancreas(4.6)
- Blood(4.6)
- Kidney(3.7)
- Eye(3.7)
- Lung(3.5)
- Skin(3.3)
- Intestine(3.3)
- Liver(3.2)
- Heart(3)
- Muscle(2.9)
Primer products for research
-
OriGene qPCR primer pairs for PFKP
-
OriGene qPCR primer pairs and template standards for PFKP
Gene Expression Assays for research
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 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PFKP 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PFKP 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pfkp 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pfkp 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PFKP 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PFKP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PFKP 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PFKP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pfkp 30 |
|
||
| MGC75635 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68847 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pfkpa 31 |
|
OneToMany | |
| pfkpb 30 31 |
|
OneToMany | |||
| Dr.12547 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Pfk 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y71H10A.1b 32 |
|
|
|
| Y71H10A.1a 32 |
|
|
|||
| pfk-1 31 |
|
ManyToMany | |||
| pfk-2 31 |
|
ManyToMany | |||
| C50F4.2 32 |
|
|
|||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL208W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A05544g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PFK1 30 31 |
|
ManyToMany | |
| PFK2 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3271 30 |
|
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PFKP Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111575676 | Benign: not provided | 3,105,389(+) |
A/G NM_002627.5(PFKP):c.666-4A>G |
INTRON | |
| rs11542779 | Benign: not provided | 3,109,435(+) |
C/T NM_002627.5(PFKP):c.1044C>T (p.Asn348=) |
SYNONYMOUS | |
| rs11542780 | Benign: not provided | 3,108,769(+) |
C/T NM_002627.5(PFKP):c.939C>T (p.Thr313=) |
SYNONYMOUS | |
| rs1228398986 | Likely Benign: not provided | 3,101,508(+) |
C/T NM_002627.5(PFKP):c.408C>T (p.Leu136=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
| rs141331919 | Likely Benign: not provided | 3,105,429(+) |
G/A NM_002627.5(PFKP):c.702G>A (p.Ala234=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
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 |
|
|
| glycogen storage disease |
|
|
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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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
- 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
- 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 41
- 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 41
- 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 41
ExternalLinks
Products for PFKP Gene
- Custom Antibody ServicesOriGene Antibodies for PFKP
- AP15111PU-N
- CF503979
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- TA312026
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- TA503983
- TA503983S
- TA503984
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- TA503985
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- TA503986
- TA503986S
- TA503998
- TA503998S
- TA503999
- TA503999S
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PFKP
- Origene Custom Protein Services for PFKP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PFKP
- Browse OriGene Inhibitory RNA Products For PFKP
- OriGene qPCR primer pairs for PFKP
- OriGene qPCR primer pairs and template standards for PFKP
- OriGene CRISPR knockouts for PFKP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PFKP
- Sino Biological Human cDNA Clone for PFKP
- Sino Biological Recombinant Proteins for PFKP
- Sino Biological Cell Lysates for PFKP
- Sino Biological Antibodies for PFKP
- Browse Sino Biological Assays
- Browse Recombinant Proteins
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins and lysates for PFKP
- Browse Antibodies
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- Abcam proteins for PFKP
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- Browse Primary Antibodies
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- Invitrogen Antibodies for PFKP (AFLGC-PFKP)
- VectorBuilder Custom and pre-made DNA vectors for PFKP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PFKP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PFKP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PFKP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PFKP
- Addgene plasmids for PFKP
- antibodies-online: Show 40 available PFKP Antibodies ranked by validation data
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- antibodies-online: Show 41 available PFKP Elisa Kits ranked by validation data
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- antibodies-online: Show 11 available PFKP Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for PFKP
- Search Santa Cruz Biotechnology (SCBT) for PFKP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PFKP
- Horizon Cell Lines for PFKP
- 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) 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