ENSG00000141959


Homo sapiens

Features
Gene ID: ENSG00000141959
  
Biological name :PFKL
  
Synonyms : P17858 / PFKL / phosphofructokinase, liver type
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: 1
Band: q22.3
Gene start: 44300051
Gene end: 44327376
  
Corresponding Affymetrix probe sets: 201102_s_at (Human Genome U133 Plus 2.0 Array)   211065_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000269848
Ensembl peptide - ENSP00000381052
Ensembl peptide - ENSP00000486076
NCBI entrez gene - 5211     See in Manteia.
OMIM - 171860
RefSeq - XM_017028372
RefSeq - NM_001002021
RefSeq - NM_002626
RefSeq - XM_017028368
RefSeq - XM_017028369
RefSeq - XM_017028370
RefSeq - XM_017028371
RefSeq - XM_005261135
RefSeq - XM_005261137
RefSeq - XM_006724011
RefSeq - XM_006724012
RefSeq - XM_011529603
RefSeq Peptide - NP_001002021
RefSeq Peptide - NP_002617
swissprot - P17858
swissprot - F8WEU2
Ensembl - ENSG00000141959
  
Related genetic diseases (OMIM): 171860 - Hemolytic anemia due to phosphofructokinase deficiency
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pfklaENSDARG00000060504Danio rerio
 pfklbENSDARG00000099755Danio rerio
 PFKLENSGALG00000006543Gallus gallus
 PfklENSMUSG00000020277Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PFKM / P08237 / phosphofructokinase, muscleENSG0000015255668
PFKP / Q01813 / phosphofructokinase, plateletENSG0000006705763


Protein motifs (from Interpro)
Interpro ID Name
 IPR000023  Phosphofructokinase domain
 IPR009161  ATP-dependent 6-phosphofructokinase, eukaryotic-type
 IPR015912  Phosphofructokinase, conserved site
 IPR022953  ATP-dependent 6-phosphofructokinase
 IPR035966  Phosphofructokinase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006002 fructose 6-phosphate metabolic process IMP
 biological_processGO:0006096 glycolytic process IDA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009749 response to glucose IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030388 fructose 1,6-bisphosphate metabolic process IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0046676 negative regulation of insulin secretion IEA
 biological_processGO:0051259 protein complex oligomerization IDA
 biological_processGO:0051289 protein homotetramerization IEA
 biological_processGO:0061615 glycolytic process through fructose-6-phosphate IEA
 biological_processGO:0061621 canonical glycolysis TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005945 6-phosphofructokinase complex IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003872 6-phosphofructokinase activity EXP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019900 kinase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048029 monosaccharide binding IEA
 molecular_functionGO:0070061 fructose binding IDA
 molecular_functionGO:0070095 fructose-6-phosphate binding IDA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
Glycolysis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000152556 PFKM / P08237 / phosphofructokinase, muscle  / complex
 ENSG00000141959 PFKL / P17858 / phosphofructokinase, liver type  / complex
 ENSG00000067057 PFKP / Q01813 / phosphofructokinase, platelet  / complex






 

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