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PFKL (phosphofructokinase, liver type)

Identity

Other aliasATP-PFK
PFK-B
PFK-L
HGNC (Hugo) PFKL
LocusID (NCBI) 5211
Atlas_Id 47253
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 45719917 and ends at 45747264 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PFKL (21q22.3) / NFKB2 (10q24.32)PFKL (21q22.3) / PFKL (21q22.3)TPI1 (12p13.31) / PFKL (21q22.3)
ZBTB21 (21q22.3) / PFKL (21q22.3)ZDHHC16 (10q24.1) / PFKL (21q22.3)ZDHHC16 10q24.1 / PFKL 21q22.3
ZNF295 PFKL 21q22.3

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)PFKL   8876
Cards
Entrez_Gene (NCBI)PFKL  5211  phosphofructokinase, liver type
AliasesATP-PFK; PFK-B; PFK-L
GeneCards (Weizmann)PFKL
Ensembl hg19 (Hinxton)ENSG00000141959 [Gene_View]  chr21:45719917-45747264 [Contig_View]  PFKL [Vega]
Ensembl hg38 (Hinxton)ENSG00000141959 [Gene_View]  chr21:45719917-45747264 [Contig_View]  PFKL [Vega]
ICGC DataPortalENSG00000141959
TCGA cBioPortalPFKL
AceView (NCBI)PFKL
Genatlas (Paris)PFKL
WikiGenes5211
SOURCE (Princeton)PFKL
Genetics Home Reference (NIH)PFKL
Genomic and cartography
GoldenPath hg19 (UCSC)PFKL  -     chr21:45719917-45747264 +  21q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PFKL  -     21q22.3   [Description]    (hg38-Dec_2013)
EnsemblPFKL - 21q22.3 [CytoView hg19]  PFKL - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIPFKL [Mapview hg19]  PFKL [Mapview hg38]
OMIM171860   
Gene and transcription
Genbank (Entrez)AB209127 AF086180 AK054735 AK091488 AK098228
RefSeq transcript (Entrez)NM_001002021 NM_002626
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_034033 NT_011512 NW_004929427
Consensus coding sequences : CCDS (NCBI)PFKL
Cluster EST : UnigeneHs.255093 [ NCBI ]
CGAP (NCI)Hs.255093
Alternative Splicing GalleryENSG00000141959
Gene ExpressionPFKL [ NCBI-GEO ]   PFKL [ EBI - ARRAY_EXPRESS ]   PFKL [ SEEK ]   PFKL [ MEM ]
Gene Expression Viewer (FireBrowse)PFKL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5211
GTEX Portal (Tissue expression)PFKL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17858   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17858  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17858
Splice isoforms : SwissVarP17858
PhosPhoSitePlusP17858
Domaine pattern : Prosite (Expaxy)PHOSPHOFRUCTOKINASE (PS00433)   
Domains : Interpro (EBI)6-Pfructokinase_euk    ATP_PFK    Phosphofructokinase_CS    Phosphofructokinase_dom   
Domain families : Pfam (Sanger)PFK (PF00365)   
Domain families : Pfam (NCBI)pfam00365   
Conserved Domain (NCBI)PFKL
DMDM Disease mutations5211
Blocks (Seattle)PFKL
SuperfamilyP17858
Human Protein AtlasENSG00000141959
Peptide AtlasP17858
HPRD01385
IPIIPI00332371   IPI01010261   IPI01018987   IPI00940003   IPI00925520   IPI00784216   
Protein Interaction databases
DIP (DOE-UCLA)P17858
IntAct (EBI)P17858
FunCoupENSG00000141959
BioGRIDPFKL
STRING (EMBL)PFKL
ZODIACPFKL
Ontologies - Pathways
QuickGOP17858
Ontology : AmiGO6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  cytosol  cytosol  6-phosphofructokinase complex  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  glycolytic process  response to glucose  membrane  kinase binding  fructose 1,6-bisphosphate metabolic process  identical protein binding  negative regulation of insulin secretion  metal ion binding  protein oligomerization  protein homotetramerization  canonical glycolysis  fructose binding  extracellular exosome  fructose-6-phosphate binding  
Ontology : EGO-EBI6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  cytosol  cytosol  6-phosphofructokinase complex  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  glycolytic process  response to glucose  membrane  kinase binding  fructose 1,6-bisphosphate metabolic process  identical protein binding  negative regulation of insulin secretion  metal ion binding  protein oligomerization  protein homotetramerization  canonical glycolysis  fructose binding  extracellular exosome  fructose-6-phosphate binding  
Pathways : BIOCARTAPhosphoinositides and their downstream targets. [Genes]   
Pathways : KEGGGlycolysis / Gluconeogenesis    Pentose phosphate pathway    Fructose and mannose metabolism    Galactose metabolism    HIF-1 signaling pathway   
NDEx NetworkPFKL
Atlas of Cancer Signalling NetworkPFKL
Wikipedia pathwaysPFKL
Orthology - Evolution
OrthoDB5211
GeneTree (enSembl)ENSG00000141959
Phylogenetic Trees/Animal Genes : TreeFamPFKL
HOVERGENP17858
HOGENOMP17858
Homologs : HomoloGenePFKL
Homology/Alignments : Family Browser (UCSC)PFKL
Gene fusions - Rearrangements
Fusion : MitelmanZBTB21/PFKL [21q22.3/21q22.3]  [t(21;21)(q22;q22)]  
Fusion : MitelmanZDHHC16/PFKL [10q24.1/21q22.3]  [t(10;21)(q24;q22)]  
Fusion: TCGAZDHHC16 10q24.1 PFKL 21q22.3 BRCA
Fusion: TCGAZNF295 PFKL 21q22.3 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFKL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFKL
dbVarPFKL
ClinVarPFKL
1000_GenomesPFKL 
Exome Variant ServerPFKL
ExAC (Exome Aggregation Consortium)PFKL (select the gene name)
Genetic variants : HAPMAP5211
Genomic Variants (DGV)PFKL [DGVbeta]
DECIPHER (Syndromes)21:45719917-45747264  ENSG00000141959
CONAN: Copy Number AnalysisPFKL 
Mutations
ICGC Data PortalPFKL 
TCGA Data PortalPFKL 
Broad Tumor PortalPFKL
OASIS PortalPFKL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFKL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFKL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PFKL
DgiDB (Drug Gene Interaction Database)PFKL
DoCM (Curated mutations)PFKL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFKL (select a term)
intoGenPFKL
Cancer3DPFKL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171860   
Orphanet
MedgenPFKL
Genetic Testing Registry PFKL
NextProtP17858 [Medical]
TSGene5211
GENETestsPFKL
Huge Navigator PFKL [HugePedia]
snp3D : Map Gene to Disease5211
BioCentury BCIQPFKL
ClinGenPFKL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5211
Chemical/Pharm GKB GenePA33215
Clinical trialPFKL
Miscellaneous
canSAR (ICR)PFKL (select the gene name)
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFKL
EVEXPFKL
GoPubMedPFKL
iHOPPFKL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:21:04 CET 2017

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