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FLASH GENE
Symbol PHKA1 contributors: mct - updated : 03-02-2017
HGNC name phosphorylase kinase, alpha 1 (muscle)
HGNC id 8925
Corresponding disease
GSD5B glycogen storage disease, type Vb, muscular
Location Xq13.1      Physical location : 71.798.664 - 71.934.029
Synonym symbol(s) PHKA, KPB1
EC.number 2.7.1.38
DNA
TYPE like-sequence
STRUCTURE 133.00 kb     32 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - RPS4X - PHKA1 - DXS1164 - DXS227 - NAP1L2 - DXS1677 - XIST - qter
Authors McDonnell (00)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 6177 - 1223 - Pallen (2003)
- - 6138 - 1223 - Pallen (2003)
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx   highly
Endocrineparathyroid   highly
Hearing/Equilibriumear   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal glucoamylase-like domains
  • HOMOLOGY
    interspecies homolog to murine Phka1
    intraspecies homolog to PHDA2
    Homologene
    FAMILY phosphorylase type b kinase regulatory chain family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in the regulation of glycogen breakdown
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NFE2L2 induction in skeletal muscle (SkM) increases GBE1 and PHKA1 expression and reduces muscle glycogen content, resulting in improved glucose tolerance
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD5B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS