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FLASH GENE
Symbol PHKA1 contributors: mct - updated : 09-04-2008
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)
Physical map
GJB1 Xq13.1 gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) ZNF261 Xq13.1 zinc finger protein 261 NONO Xq13.1 non-POU domain containing, octamer-binding ITGB1BP2 Xq12.1-q13 integrin beta 1 binding protein (melusin) 2 LOC392489 X similar to ras homolog gene family, member G (rho G); RhoG TAF1 Xq13.1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa ING2 Xq12 inhibitor of growth family, member 2 OGT Xq13 O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) ACRC Xq13.1 acidic repeat containing CXCR3 Xq13 chemokine (C-X-C motif) receptor 3 LOC158825 Xq13.1 hypothetical LOC158825 LOC389868 X LOC389868 LOC389869 X LOC389869 LOC389870 X LOC389870 LOC389871 X LOC389871 LOC286539 Xq13.1 similar to 40S ribosomal protein S26 KIAA2001 Xq13.1 KIAA2001 protein LOC340527 Xq13.1 similar to Nance-Horan syndrome (congenital cataracts and dental anomalies); NHS gene LOC392490 X similar to Translationally controlled tumor protein (TCTP) (p23) (Histamine-releasing factor) (HRF) PIN4 Xq13 protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) FLJ20105 Xq13.1 hypothetical protein FLJ20105 RPS4X Xq13.1 ribosomal protein S4, X-linked CITED1 Xq13.1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 HDAC8 Xq13 histone deacetylase 8 PHKA1 Xq13.1 phosphorylase kinase, alpha 1 (muscle) DMRTC1 Xq13.1 DMRT-like family C1 MGC34827 Xq13.1 hypothetical protein MGC34827 LOC340529 Xq13.1 hypothetical protein LOC340529 LOC392491 X similar to hypothetical protein LOC340529 LOC392492 X similar to Nap1l2 NAP1L2 Xq13.2 nucleosome assembly protein 1-like 2 LOC392493 X hypothetical gene supported by BC000882; NM_014765 LOC392494 X similar to YWHAZ protein CDX4 Xq13.2 caudal type homeo box transcription factor 4 LOC139201 Xq13.1 mitogen-activated protein kinase kinase 4 pseudogene LOC389872 X similar to cysteine-rich hydrophobic 1 (CHIC1) protein LOC389873 X similar to selenophosphate synthetase 1 XIST Xq13.2 X (inactive)-specific transcript
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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD5B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS