AutismKB 2.0

Annotation Details for PFKL


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Basic Information Top
Gene Symbol:PFKL ( DKFZp686G1648,DKFZp686L2097,FLJ30173,FLJ40909,PFK-B )
Gene Full Name: phosphofructokinase, liver
Band: 21q22.3
Quick LinksEntrez ID:5211; OMIM: 171860; Uniprot ID:K6PL_HUMAN; ENSEMBL ID: ENSG00000141959; HGNC ID: 8876
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005829IDA-cytosol16780588
GO:0005829TAS-cytosol-
GO:0005945IDA-6-phosphofructokinase complex6444532
GO:0016020IDA-membrane19946888
GO:0034774TAS-secretory granule lumen-
GO:0070062IDA-extracellular exosome19056867
GO:1904813TAS-ficolin-1-rich granule lumen-
GO ID Evidence Qualifier GO_term References
GO:0003872EXP-6-phosphofructokinase activity2960695
GO:0003872IDA-6-phosphofructokinase activity6444532
GO:0003872IMPcontributes_to6-phosphofructokinase activity6227635
GO:0005515IPI-protein binding6444721
GO:0005524IDA-ATP binding8780720
GO:0019900IPI-kinase binding6444721
GO:0042802IPI-identical protein binding6444721
GO:0046872IEA-metal ion binding-
GO:0070061IDA-fructose binding8780720
GO:0070095IDA-fructose-6-phosphate binding6444721
GO ID Evidence Qualifier GO_term References
GO:0006002IDA-fructose 6-phosphate metabolic process6444532
GO:0006002IMP-fructose 6-phosphate metabolic process6227635
GO:0006096IDA-glycolytic process6227635
GO:0009749IDA-response to glucose22923583
GO:0030388IDA-fructose 1,6-bisphosphate metabolic process22923583
GO:0043312TAS-neutrophil degranulation-
GO:0046676IEA-negative regulation of insulin secretion-
GO:0051259IDA-protein oligomerization6444721
GO:0051289IEA-protein homotetramerization-
GO:0061621TAS-canonical glycolysis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PFKLDMWD10810219615732 Affinity Capture-MS
PFKLDMWD11123219615732 Affinity Capture-MS
COPS6PFKL11123216169070 Two-hybrid
COPS6PFKL11617616169070 Two-hybrid
KRTAP4-12PFKL11123216189514 Two-hybrid
KRTAP4-12PFKL12375616189514 Two-hybrid
TAF10PFKL11123217643375 Affinity Capture-MS
TAF10PFKL11274417643375 Affinity Capture-MS
TAF13PFKL11123217643375 Affinity Capture-MS
TAF13PFKL11274717643375 Affinity Capture-MS
C12orf44PFKL12194820562859 Affinity Capture-MS
C12orf44PFKL11123220562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97547
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018