ENSG00000067177


Homo sapiens

Features
Gene ID: ENSG00000067177
  
Biological name :PHKA1
  
Synonyms : P46020 / PHKA1 / phosphorylase kinase regulatory subunit alpha 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q13.1
Gene start: 72578814
Gene end: 72714319
  
Corresponding Affymetrix probe sets: 205450_at (Human Genome U133 Plus 2.0 Array)   229876_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000362643
Ensembl peptide - ENSP00000441251
Ensembl peptide - ENSP00000362646
Ensembl peptide - ENSP00000342469
Ensembl peptide - ENSP00000362640
NCBI entrez gene - 5255     See in Manteia.
OMIM - 311870
RefSeq - NM_002637
RefSeq - XM_006724661
RefSeq - NM_001122670
RefSeq - NM_001172436
RefSeq Peptide - NP_001116142
RefSeq Peptide - NP_001165907
RefSeq Peptide - NP_002628
swissprot - A6NIT2
swissprot - A6NMN0
swissprot - P46020
Ensembl - ENSG00000067177
  
Related genetic diseases (OMIM): 300559 - Muscle glycogenosis, 300559
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 PHKA1ENSGALG00000004801Gallus gallus
 Phka1ENSMUSG00000034055Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PHKA2 / P46019 / phosphorylase kinase regulatory subunit alpha 2ENSG0000004444669
PHKB / Q93100 / phosphorylase kinase regulatory subunit betaENSG0000010289331


Protein motifs (from Interpro)
Interpro ID Name
 IPR008734  Phosphorylase kinase alpha/beta subunit
 IPR008928  Six-hairpin glycosidase superfamily
 IPR011613  GH15-like domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005977 glycogen metabolic process TAS
 biological_processGO:0005980 glycogen catabolic process TAS
 biological_processGO:0006091 generation of precursor metabolites and energy TAS
 biological_processGO:0006468 protein phosphorylation IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005964 phosphorylase kinase complex IBA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004689 phosphorylase kinase activity TAS
 molecular_functionGO:0005516 calmodulin binding IEA


Pathways (from Reactome)
Pathway description
Glycogen breakdown (glycogenolysis)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003546 Exercise intolerance 
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 HP:0003738 Exercise-induced myalgia "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators]
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 HP:0008305 Myoglobinuria, exercise-induced 
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 HP:0008967 Exercise-induced muscle stiffness 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164776 PHKG1 / Q16816 / phosphorylase kinase catalytic subunit gamma 1  / complex
 ENSG00000102893 PHKB / Q93100 / phosphorylase kinase regulatory subunit beta  / complex
 ENSG00000067177 PHKA1 / P46020 / phosphorylase kinase regulatory subunit alpha 1  / complex
 ENSG00000100994 PYGB / P11216 / glycogen phosphorylase B  / reaction
 ENSG00000068976 PYGM / P11217 / glycogen phosphorylase, muscle associated  / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex






 

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