Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PFKL (phosphofructokinase, liver type)

Identity

Alias (NCBI)ATP-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 44300053 and ends at 44327373 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    phosphofructokinase, liver type
AliasesATP-PFK; PFK-B; PFK-L
GeneCards (Weizmann)PFKL
Ensembl hg19 (Hinxton)ENSG00000141959 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141959 [Gene_View]  ENSG00000141959 [Sequence]  chr21:44300053-44327373 [Contig_View]  PFKL [Vega]
ICGC DataPortalENSG00000141959
TCGA cBioPortalPFKL
AceView (NCBI)PFKL
Genatlas (Paris)PFKL
SOURCE (Princeton)PFKL
Genetics Home Reference (NIH)PFKL
Genomic and cartography
GoldenPath hg38 (UCSC)PFKL  -     chr21:44300053-44327373 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PFKL  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathPFKL - 21q22.3 [CytoView hg19]  PFKL - 21q22.3 [CytoView hg38]
ImmunoBaseENSG00000141959
Genome Data Viewer NCBIPFKL [Mapview hg19]  
OMIM171860   
Gene and transcription
Genbank (Entrez)AB209127 AF086180 AK054735 AK091488 AK098228
RefSeq transcript (Entrez)NM_001002021 NM_002626
Consensus coding sequences : CCDS (NCBI)PFKL
Gene ExpressionPFKL [ NCBI-GEO ]   PFKL [ EBI - ARRAY_EXPRESS ]   PFKL [ SEEK ]   PFKL [ MEM ]
Gene Expression Viewer (FireBrowse)PFKL [ Firebrowse - Broad ]
GenevisibleExpression of PFKL in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5211
GTEX Portal (Tissue expression)PFKL
Human Protein AtlasENSG00000141959-PFKL [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP17858
Domaine pattern : Prosite (Expaxy)PHOSPHOFRUCTOKINASE (PS00433)   
Domains : Interpro (EBI)6-Pfructokinase_euk    ATP_PFK    PFK_vert-type    Phosphofructokinase_CS    Phosphofructokinase_dom    PKF_sf   
Domain families : Pfam (Sanger)PFK (PF00365)   
Domain families : Pfam (NCBI)pfam00365   
Conserved Domain (NCBI)PFKL
SuperfamilyP17858
AlphaFold pdb e-kbP17858   
Human Protein Atlas [tissue]ENSG00000141959-PFKL [tissue]
HPRD01385
Protein Interaction databases
DIP (DOE-UCLA)P17858
IntAct (EBI)P17858
BioGRIDPFKL
STRING (EMBL)PFKL
ZODIACPFKL
Ontologies - Pathways
QuickGOP17858
Ontology : AmiGO6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  ATP binding  extracellular region  cytosol  cytosol  6-phosphofructokinase complex  6-phosphofructokinase complex  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  glycolytic process  response to glucose  membrane  membrane  AMP binding  kinase binding  fructose 1,6-bisphosphate metabolic process  fructose 1,6-bisphosphate metabolic process  secretory granule lumen  identical protein binding  identical protein binding  neutrophil degranulation  negative regulation of insulin secretion  metal ion binding  monosaccharide binding  canonical glycolysis  canonical glycolysis  fructose binding  extracellular exosome  fructose-6-phosphate binding  fructose-6-phosphate binding  ficolin-1-rich granule lumen  
Ontology : EGO-EBI6-phosphofructokinase activity  6-phosphofructokinase activity  6-phosphofructokinase activity  protein binding  ATP binding  ATP binding  extracellular region  cytosol  cytosol  6-phosphofructokinase complex  6-phosphofructokinase complex  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  fructose 6-phosphate metabolic process  glycolytic process  response to glucose  membrane  membrane  AMP binding  kinase binding  fructose 1,6-bisphosphate metabolic process  fructose 1,6-bisphosphate metabolic process  secretory granule lumen  identical protein binding  identical protein binding  neutrophil degranulation  negative regulation of insulin secretion  metal ion binding  monosaccharide binding  canonical glycolysis  canonical glycolysis  fructose binding  extracellular exosome  fructose-6-phosphate binding  fructose-6-phosphate binding  ficolin-1-rich granule lumen  
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
Homologs : HomoloGenePFKL
Homology/Alignments : Family Browser (UCSC)PFKL
Gene fusions - Rearrangements
Fusion : MitelmanZBTB21/PFKL [21q22.3/21q22.3]  
Fusion : MitelmanZDHHC16/PFKL [10q24.1/21q22.3]  
Fusion : QuiverPFKL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFKL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFKL
dbVarPFKL
ClinVarPFKL
MonarchPFKL
1000_GenomesPFKL 
Exome Variant ServerPFKL
GNOMAD BrowserENSG00000141959
Varsome BrowserPFKL
ACMGPFKL variants
VarityP17858
Genomic Variants (DGV)PFKL [DGVbeta]
DECIPHERPFKL [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPFKL
Mutations and Diseases : HGMDPFKL
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPFKL
DgiDB (Drug Gene Interaction Database)PFKL
DoCM (Curated mutations)PFKL
CIViC (Clinical Interpretations of Variants in Cancer)PFKL
Cancer3DPFKL
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171860   
Orphanet
DisGeNETPFKL
MedgenPFKL
Genetic Testing Registry PFKL
NextProtP17858 [Medical]
GENETestsPFKL
Target ValidationPFKL
Huge Navigator PFKL [HugePedia]
ClinGenPFKL
Clinical trials, drugs, therapy
MyCancerGenomePFKL
Protein Interactions : CTDPFKL
Pharm GKB GenePA33215
PharosP17858
Clinical trialPFKL
Miscellaneous
canSAR (ICR)PFKL
HarmonizomePFKL
DataMed IndexPFKL
Probes
Litterature
PubMed115 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPFKL
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 : Mon Oct 4 15:24:59 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.