About   Help   FAQ
Phka1
Gene Detail
 Symbol
Name
ID
Phka1
phosphorylase kinase alpha 1
MGI:97576
Synonyms 9830108K24Rik, Phka
Feature Type protein coding gene
Genetic Map
Chromosome X
45.47 cM
Detailed Genetic Map ± 1 cM


Mapping data(15)
Sequence Map
ChrX:102513975-102644246 bp, - strand
From VEGA annotation of GRCm38

  130272 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1981  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: phosphorylase b kinase, regulatory subunit alpha
Gene Tree: Phka1

Human
homologs
Human Homolog PHKA1, phosphorylase kinase, alpha 1 (muscle)
NCBI Gene ID 5255
neXtProt AC  NX_P46020
Human Synonyms  PHKA
Human Chr (Location)  Xq12-q13; chrX:72578814-72714181 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PHKA1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
PHK activity is nearly absent in I/Ln skeletal muscle and reduced in brain, heart and kidney. The I-allele sequence is known to have a single nucleotide insertion (frameshift). A different allele in strain V reduces PHK activity to 25% and is dominant to normal and I-strain alleles.
 
Human Diseases Modeled Using Mouse Phka1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Phka1 interacts with 321 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process carbohydrate metabolic process, glycogen metabolic process, ...
Component membrane, phosphorylase kinase complex, ...
Function calmodulin binding, catalytic activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (17)    Tissues (5)    Images (9)
Theiler Stages: 22, 23, 26, 28
Assay TypeResults
RNA in situ 12
RT-PCR 5
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(18) cDNA(17) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000018059 (Evidence)
Ensembl Gene ModelENSMUSG00000034055 (Evidence)
Entrez Gene18679 (Evidence)
DFCITC1582939, TC1587453, TC1609116, TC1615715, TC1620792, TC1623497, TC1630318
NIA Mouse Gene IndexU039589, U065747, U193076, U379228
Consensus CDS ProjectCCDS30323.1, CCDS30324.1
International Mouse Knockout Project StatusPhka1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018059 VEGA Gene Model | MGI Sequence Detail 130272 C57BL/6J ±  kb
transcript OTTMUST00000043585 VEGA | MGI Sequence Detail 6115 Not Applicable 
polypeptide OTTMUSP00000019585 VEGA | MGI Sequence Detail 1241 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(10) UniProt(9)
Polymorphisms RFLP(2) : SNPs within 2kb(319 from dbSNP Build 137)    SNPs within 2kb including multiple locations(321)
Protein-related
information
ResourceIDDescription
InterPro IPR011613 Glycoside hydrolase family 15
InterPro IPR008734 Phosphorylase kinase alpha/beta subunit
InterPro IPR012341 Six-hairpin glycosidase
InterPro IPR008928 Six-hairpin glycosidase-like
Protein Ontology PR:000012658 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
References (Earliest) J:37921 LYON JB Jr, et al., The relation of phosphorylase to glycogenolysis in skeletal muscle and heart of mice. J Biol Chem. 1963 Jan;238:1-11
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(57)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-13294, MGD-MRK-13295, MGI:2444140

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/19/2014
MGI 5.19
The Jackson Laboratory