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FLASH GENE
Symbol PHKB contributors: mlc - updated : 25-02-2006
HGNC name phosphorylase kinase, beta
HGNC id 8927
Corresponding disease
GSD8B glycogen storage disease, type VIIIb
GSD9B glycogen storage disease, type IX B
Location 16q12.1      Physical location : 47.495.209 - 47.735.433
Synonym symbol(s) FLJ41698
EC.number 2.7.1.38
DNA
TYPE functioning gene
STRUCTURE 239.00 kb     32 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
MAPPING cloned Y linked N status provisional
Physical map
LOC124149 16q11.2 similar to KIAA0565 protein LOC390728 16 similar to Rab31-like SHCBP1 16q11.2 likely ortholog of mouse Shc SH2-domain binding protein 1 LOC388271 16q11.2 similar to RAB41 VPS35 16q13-q21 vacuolar protein sorting 35 (yeast) ORC6L 16q12 origin recognition complex, subunit 6 homolog-like (yeast) LOC91807 16q11.2 myosin light chain kinase (MLCK) LOC388272 16 similar to RIKEN cDNA 4921524J17 LOC124144 16q11.2 brain creatine kinase pseudogene GPT2 16q12.1 glutamic pyruvate transaminase (alanine aminotransferase) 2 DNAJA2 16q11.1-q11.2 DnaJ (Hsp40) homolog, subfamily A, member 2 NETO2 16q11.2 neuropilin (NRP) and tolloid (TLL)-like 2 LOC342451 16q11.2 similar to 60S ribosomal protein L23a CDA08 16q11.2 T-cell immunomodulatory protein PHKB 16q12.1 phosphorylase kinase, beta ABCC12 16q11-q12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 ABCC11 16q11-q12 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 LONP 16q12.1 peroxisomal lon protease SIAH1 16q12 seven in absentia homolog 1 (Drosophila) LOC255896 16q12.1 similar to molybdenum cofactor synthesis-step 1 protein isoform 2 FLJ31821 16q12.1 hypothetical protein FLJ31821 N4BP1 16q12.1 hypothetical protein FLJ31821 LOC388273 16 LOC388273 CBLN1 16q11.2-q12.2 cerebellin 1 precursor MGC33367 16q12.1 hypothetical protein MGC32905 OAZ 16q12 hypothetical protein MGC32905 ADAM3B 16q12.1 a disintegrin and metalloproteinase domain 3b (cyritestin 2) MRPS21P7 16q12.1 mitochondrial ribosomal protein S21 pseudogene 7 MRPS21P8 16q12.1 mitochondrial ribosomal protein S21 pseudogene 8
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 4284 - 1093 - Pallen (2003)
- - 3821 - 1086 - Pallen (2003)
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunethymus   highly
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     plasma membrane
intracellular,cytoplasm,organelle,lysosome
basic FUNCTION
  • involved in glycogen catabolism
  • catalyzing the phosphorylation of serine in certain substrates, including troponin I
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by thyroid hormones
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD8B , GSD9B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS