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PFKFB1 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1)

Identity

Alias_namesPFRX
Other aliasF6PK
HL2K
HGNC (Hugo) PFKFB1
LocusID (NCBI) 5207
Atlas_Id 71847
Location Xp11.21  [Link to chromosome band Xp11]
Location_base_pair Starts at 54933134 and ends at 54994078 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PFKFB1   8872
Cards
Entrez_Gene (NCBI)PFKFB1  5207  6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
AliasesF6PK; HL2K; PFRX
GeneCards (Weizmann)PFKFB1
Ensembl hg19 (Hinxton)ENSG00000158571 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158571 [Gene_View]  chrX:54933134-54994078 [Contig_View]  PFKFB1 [Vega]
ICGC DataPortalENSG00000158571
TCGA cBioPortalPFKFB1
AceView (NCBI)PFKFB1
Genatlas (Paris)PFKFB1
WikiGenes5207
SOURCE (Princeton)PFKFB1
Genetics Home Reference (NIH)PFKFB1
Genomic and cartography
GoldenPath hg38 (UCSC)PFKFB1  -     chrX:54933134-54994078 -  Xp11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PFKFB1  -     Xp11.21   [Description]    (hg19-Feb_2009)
EnsemblPFKFB1 - Xp11.21 [CytoView hg19]  PFKFB1 - Xp11.21 [CytoView hg38]
Mapping of homologs : NCBIPFKFB1 [Mapview hg19]  PFKFB1 [Mapview hg38]
OMIM311790   
Gene and transcription
Genbank (Entrez)AK300724 AK314089 AL703826 BC096077 BC096078
RefSeq transcript (Entrez)NM_001271804 NM_001271805 NM_002625
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PFKFB1
Cluster EST : UnigeneHs.444304 [ NCBI ]
CGAP (NCI)Hs.444304
Alternative Splicing GalleryENSG00000158571
Gene ExpressionPFKFB1 [ NCBI-GEO ]   PFKFB1 [ EBI - ARRAY_EXPRESS ]   PFKFB1 [ SEEK ]   PFKFB1 [ MEM ]
Gene Expression Viewer (FireBrowse)PFKFB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5207
GTEX Portal (Tissue expression)PFKFB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16118   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16118  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16118
Splice isoforms : SwissVarP16118
Catalytic activity : Enzyme2.7.1.105 [ Enzyme-Expasy ]   2.7.1.1052.7.1.105 [ IntEnz-EBI ]   2.7.1.105 [ BRENDA ]   2.7.1.105 [ KEGG ]   
PhosPhoSitePlusP16118
Domaine pattern : Prosite (Expaxy)PG_MUTASE (PS00175)   
Domains : Interpro (EBI)6Pfruct_kin    6Phosfructo_kin    His_Pase_superF_clade-1    His_PPase_superfam    P-loop_NTPase    PG/BPGM_mutase_AS   
Domain families : Pfam (Sanger)6PF2K (PF01591)    His_Phos_1 (PF00300)   
Domain families : Pfam (NCBI)pfam01591    pfam00300   
Domain families : Smart (EMBL)PGAM (SM00855)  
Conserved Domain (NCBI)PFKFB1
DMDM Disease mutations5207
Blocks (Seattle)PFKFB1
PDB (SRS)1K6M   
PDB (PDBSum)1K6M   
PDB (IMB)1K6M   
PDB (RSDB)1K6M   
Structural Biology KnowledgeBase1K6M   
SCOP (Structural Classification of Proteins)1K6M   
CATH (Classification of proteins structures)1K6M   
SuperfamilyP16118
Human Protein AtlasENSG00000158571
Peptide AtlasP16118
HPRD02411
IPIIPI01014737   IPI00844528   IPI00783603   
Protein Interaction databases
DIP (DOE-UCLA)P16118
IntAct (EBI)P16118
FunCoupENSG00000158571
BioGRIDPFKFB1
STRING (EMBL)PFKFB1
ZODIACPFKFB1
Ontologies - Pathways
QuickGOP16118
Ontology : AmiGO6-phosphofructo-2-kinase activity  6-phosphofructo-2-kinase activity  fructose-2,6-bisphosphate 2-phosphatase activity  fructose-2,6-bisphosphate 2-phosphatase activity  protein binding  ATP binding  cytosol  fructose metabolic process  fructose 2,6-bisphosphate metabolic process  gluconeogenesis  glycolytic process  dephosphorylation  kinase binding  animal organ regeneration  response to insulin  positive regulation of glucokinase activity  response to glucagon  response to starvation  identical protein binding  6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex  carbohydrate phosphorylation  response to glucocorticoid  response to cAMP  canonical glycolysis  fructose-6-phosphate binding  
Ontology : EGO-EBI6-phosphofructo-2-kinase activity  6-phosphofructo-2-kinase activity  fructose-2,6-bisphosphate 2-phosphatase activity  fructose-2,6-bisphosphate 2-phosphatase activity  protein binding  ATP binding  cytosol  fructose metabolic process  fructose 2,6-bisphosphate metabolic process  gluconeogenesis  glycolytic process  dephosphorylation  kinase binding  animal organ regeneration  response to insulin  positive regulation of glucokinase activity  response to glucagon  response to starvation  identical protein binding  6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex  carbohydrate phosphorylation  response to glucocorticoid  response to cAMP  canonical glycolysis  fructose-6-phosphate binding  
Pathways : KEGGFructose and mannose metabolism    HIF-1 signaling pathway   
NDEx NetworkPFKFB1
Atlas of Cancer Signalling NetworkPFKFB1
Wikipedia pathwaysPFKFB1
Orthology - Evolution
OrthoDB5207
GeneTree (enSembl)ENSG00000158571
Phylogenetic Trees/Animal Genes : TreeFamPFKFB1
HOVERGENP16118
HOGENOMP16118
Homologs : HomoloGenePFKFB1
Homology/Alignments : Family Browser (UCSC)PFKFB1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFKFB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFKFB1
dbVarPFKFB1
ClinVarPFKFB1
1000_GenomesPFKFB1 
Exome Variant ServerPFKFB1
ExAC (Exome Aggregation Consortium)PFKFB1 (select the gene name)
Genetic variants : HAPMAP5207
Genomic Variants (DGV)PFKFB1 [DGVbeta]
DECIPHERPFKFB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPFKFB1 
Mutations
ICGC Data PortalPFKFB1 
TCGA Data PortalPFKFB1 
Broad Tumor PortalPFKFB1
OASIS PortalPFKFB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFKFB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFKFB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch PFKFB1
DgiDB (Drug Gene Interaction Database)PFKFB1
DoCM (Curated mutations)PFKFB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFKFB1 (select a term)
intoGenPFKFB1
Cancer3DPFKFB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM311790   
Orphanet
MedgenPFKFB1
Genetic Testing Registry PFKFB1
NextProtP16118 [Medical]
TSGene5207
GENETestsPFKFB1
Target ValidationPFKFB1
Huge Navigator PFKFB1 [HugePedia]
snp3D : Map Gene to Disease5207
BioCentury BCIQPFKFB1
ClinGenPFKFB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5207
Chemical/Pharm GKB GenePA33211
Clinical trialPFKFB1
Miscellaneous
canSAR (ICR)PFKFB1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFKFB1
EVEXPFKFB1
GoPubMedPFKFB1
iHOPPFKFB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:22 CEST 2017

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