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Pfkl Gene Detail
Summary
  • Symbol
    Pfkl
  • Name
    phosphofructokinase, liver, B-type
  • Feature Type
    protein coding gene
  • IDs
    MGI:97547
    NCBI Gene: 18641
  • Gene Overview
    MyGene.info: PFKL
Location & Maps
more
  • Sequence Map
    Chr10:77986947-78010083 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23137 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    PFKL, phosphofructokinase, liver type
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PFKL, phosphofructokinase, liver type
    Orthology source: HomoloGene
  • Synonyms
    ATP-PFK, PFK-B, PFK-L
  • Links
    NCBI Gene ID: 5211
    neXtProt AC: NX_P17858

  • Chr Location
    21q22.3; chr21:44300034-44327381 (+)  GRCh38.p2

Human Diseases
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  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    8
  • Targeted
    5
  • Transgenic
    1
  • Genomic Mutations
    4 involving Pfkl
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016976 VEGA Gene Model | MGI Sequence Detail 23137 C57BL/6J ±  kb
transcript OTTMUST00000041169 VEGA | MGI Sequence Detail 3730 Not Applicable  
polypeptide OTTMUSP00000018445 VEGA | MGI Sequence Detail 780 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    62 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012582 ATP-dependent 6-phosphofructokinase, liver type
  • EC
  • InterPro Domains
    IPR022953 ATP-dependent 6-phosphofructokinase
    IPR009161 ATP-dependent 6-phosphofructokinase, eukaryotic-type
    IPR015912 Phosphofructokinase, conserved site
    IPR000023 Phosphofructokinase domain
Molecular
Reagents
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  • All nucleic 364
    Genomic 16
    cDNA 346
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-13246, MGI:2143459
References
more
  • Summaries
    All 58
    Developmental Gene Expression 8
    Diseases 2
    Gene Ontology 7
    Phenotypes 23
  • Earliest
    J:223061 Marcus F, et al., Mouse (C57BL/KsJ) liver phosphofructokinase. Allosteric kinetics and age-related changes in the genetically diabetic state. J Biol Chem. 1981 Jan 10;256(1):378-81
  • Latest
    J:225710 Tuck E, et al., A gene expression resource generated by genome-wide lacZ profiling in the mouse. Dis Model Mech. 2015 Nov 1;8(11):1467-78

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory