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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:77822781-77845641 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    680 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97547
 protein coding gene Chr10:77822781-77845917 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017413
 protein coding gene Chr10:78390310-78415305 (-)
A/J MGP_AJ_G0017391
 protein coding gene Chr10:75681004-75707497 (-)
AKR/J MGP_AKRJ_G0017354
 protein coding gene Chr10:77701253-77727054 (-)
BALB/cJ MGP_BALBcJ_G0017353
 protein coding gene Chr10:75848556-75871606 (-)
C3H/HeJ MGP_C3HHeJ_G0017176
 protein coding gene Chr10:77786187-77814243 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017809
 protein coding gene Chr10:81172580-81206217 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015500
 protein coding gene Chr10:72032296-72055647 (-)
CAST/EiJ MGP_CASTEiJ_G0016746
 protein coding gene Chr10:78109314-78132345 (-)
CBA/J MGP_CBAJ_G0017148
 protein coding gene Chr10:84253567-84279655 (-)
DBA/2J MGP_DBA2J_G0017256
 protein coding gene Chr10:74917355-74940700 (-)
FVB/NJ MGP_FVBNJ_G0017248
 protein coding gene Chr10:74097819-74127854 (-)
LP/J MGP_LPJ_G0017327
 protein coding gene Chr10:78842037-78866829 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017275
 protein coding gene Chr10:86249686-86276699 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017851
 protein coding gene Chr10:77744404-77774303 (-)
PWK/PhJ MGP_PWKPhJ_G0016528
 protein coding gene Chr10:74799744-74823657 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016313
 protein coding gene Chr10:76962724-76988645 (-)
WSB/EiJ MGP_WSBEiJ_G0016806
 protein coding gene Chr10:77718881-77746739 (-)



Homology
more
  • Human Ortholog
    PFKL, phosphofructokinase, liver type
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PFKL, phosphofructokinase, liver type
  • Synonyms
    ATP-PFK, PFK-B, PFK-L
  • Links
    NCBI Gene ID: 5211
    neXtProt AC: NX_P17858
    UniProt: P17858

  • Chr Location
    21q22.3; chr21:44300051-44327376 (+)  GRCh38
Human Diseases
less
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    41 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.
Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Female heterozygous mice show anomalies in the hair cycle catagen phase and hair follicle degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1198
  • Tissues
    165
  • cDNA Data
    343
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18641 NCBI Gene Model | MGI Sequence Detail 22861 C57BL/6J ±  kb
    transcript NM_001358793 RefSeq | MGI Sequence Detail 4098 ZRU/MplStud  
    polypeptide P12382 UniProt | EBI | MGI Sequence Detail 780 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000012582 ATP-dependent 6-phosphofructokinase, liver type
      (term hierarchy)
    • EC
      2.7.1.11
    • InterPro Domains
      IPR022953 ATP-dependent 6-phosphofructokinase
      IPR009161 ATP-dependent 6-phosphofructokinase, eukaryotic-type
      IPR041914 ATP-dependent 6-phosphofructokinase, vertebrate-type
      IPR015912 Phosphofructokinase, conserved site
      IPR000023 Phosphofructokinase domain
      IPR035966 Phosphofructokinase superfamily
    • GlyGen
      P12382 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 368
      Genomic 16
      cDNA 347
      Primer pair 2
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13246, MGI:2143459
    References
    more
    • Summaries
      All 102
      Developmental Gene Expression 14
      Diseases 2
      Gene Ontology 11
      Phenotypes 41
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:347732 Buth JE, et al., Foxp1 suppresses cortical angiogenesis and attenuates HIF-1alpha signaling to promote neural progenitor cell maintenance. EMBO Rep. 2024 Apr 10;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory