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FLASH GENE
Symbol PFKL contributors: - updated : 23-08-2005
HGNC name phosphofructokinase, liver
HGNC id 8876
Corresponding disease
PFKL hemolytic anemia with myopathy
Location 21q22.3      Physical location : 45.719.924 - 45.747.260
Synonym symbol(s) PFKC
EC.number 2.7.1.11
DNA
TYPE functioning gene
STRUCTURE 27.00 kb     25 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - TMEM1 - D21S1460 - PWP2H - C21orf33 - D21S141 - CBS - CRYAA - D21S112 - D21S25 - D21S1461 - PFKL PFKL - C21orf2 - D21S154 - D21S400 - D21S170 - D21S171 - D21S1903 - SUMO3 - ITGB2 - D21S1897 - ADARB1 - COL18A1 - SLC19A1 - D21S44 - D21S112 - COL6A1 - LSS - COL6A2 - PCNT2 - S100B - D21S1446 - qter
Authors Petersen (91),Delabar (92),Gardiner (92),Chumakov (92),Falik-Borenstein (92),Kudoh (97),Lapenta (98)
Physical map
KIAA0179 21q22.3 pituitary tumor-transforming 1 interacting protein PDXK 21q22.3 pyridoxal (pyridoxine, vitamin B6) kinase C21orf124 21q22.3 chromosome 21 open reading frame 124 C21orf97 21q22.3 chromosome 21 open reading frame 97 CSTB 21q22.3 cystatin B (stefin B) D21S2056E 21q22.3 DNA segment on chromosome 21 (unique) 2056 expressed sequence LOC284837 21q22.3 hypothetical protein LOC284837 MYL6P 21q22.3 myosin, light polypeptide 6, pseudogene AGPAT3 21q22.3 1-acylglycerol-3-phosphate O-acyltransferase 3 TMEM1 21q22.3 transmembrane protein 1 H2AFZP 21q22.3 H2A histone family, member Z, pseudogene PWP2H 21q22.3 PWP2 periodic tryptophan protein homolog (yeast) C21orf33 21q22.3 chromosome 21 open reading frame 33 C21orf32 21q22.3 chromosome 21 open reading frame 32 ICOSL 21q22.3 inducible T-cell co-stimulator ligand DNMT3L 21q22.3 DNA (cytosine-5-)-methyltransferase 3-like AIRE 21q22.3 autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) PFKL 21q22.3 phosphofructokinase, liver C21orf2 21q22.3 chromosome 21 open reading frame 2 TRPM2 21q22.3 transient receptor potential cation channel, subfamily M, member 2 LRRC3 21q22.3 leucine-rich repeat-containing 3 C21orf29 21q22.3 chromosome 21 open reading frame 29 C21orf90 21q22.1 chromosome 21 open reading frame 90 KRTAP10-10 21q22.3 keratin associated protein 10-10 KRTAP12-2 21q22.3 keratin associated protein 12-2 IMMTP 21q22.3 inner membrane protein, mitochondrial (mitofilin) pseudogene KRTAP12-1 21q22.3 keratin associated protein 12-1 UBE2G2 21q22.3 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) SMT3H1 21q22.3 SMT3 suppressor of mif two 3 homolog 1 (yeast) PTTG1IP 21q22.3 pituitary tumor-transforming 1 interacting protein
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer tetramer
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • 6-phosphofructo-1-kinase
  • energy patway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    fructose metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PFKL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS