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Aliases for PHKA1 Gene

Aliases for PHKA1 Gene

  • Phosphorylase Kinase, Alpha 1 (Muscle) 2 3
  • Phosphorylase Kinase Alpha M Subunit 3 4
  • PHKA 3 4
  • Phosphorylase B Kinase Regulatory Subunit Alpha, Skeletal Muscle Isoform 3
  • Phosphorylase B Kinase Regulatory Subunit Alpha Skeletal Muscle Isoform 3
  • Phosphorylase Kinase, Alpha 1 (Muscle), Muscle Glycogenosis 3

External Ids for PHKA1 Gene

Previous HGNC Symbols for PHKA1 Gene

  • PHKA

Previous GeneCards Identifiers for PHKA1 Gene

  • GC0XM067527
  • GC0XM069035
  • GC0XM070033
  • GC0XM070667
  • GC0XM071583
  • GC0XM071715
  • GC0XM065553
  • GC0XM071798

Summaries for PHKA1 Gene

Entrez Gene Summary for PHKA1 Gene

  • Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]

GeneCards Summary for PHKA1 Gene

PHKA1 (Phosphorylase Kinase, Alpha 1 (Muscle)) is a Protein Coding gene. Diseases associated with PHKA1 include muscle glycogenosis and muscular phosphorylase kinase deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKB.

UniProtKB/Swiss-Prot for PHKA1 Gene

  • Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin

Gene Wiki entry for PHKA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHKA1 Gene

Genomics for PHKA1 Gene

Regulatory Elements for PHKA1 Gene

Genomic Location for PHKA1 Gene

Start:
72,578,814 bp from pter
End:
72,714,319 bp from pter
Size:
135,506 bases
Orientation:
Minus strand

Genomic View for PHKA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PHKA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHKA1 Gene

Proteins for PHKA1 Gene

  • Protein details for PHKA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46020-KPB1_HUMAN
    Recommended name:
    Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
    Protein Accession:
    P46020
    Secondary Accessions:
    • B7ZL05
    • B7ZL07
    • Q2M3D7

    Protein attributes for PHKA1 Gene

    Size:
    1223 amino acids
    Molecular mass:
    137312 Da
    Quaternary structure:
    • Hexadecamer of 4 heterotetramers, each composed of alpha, beta, gamma, and delta subunits. Alpha (PHKA1 or PHKA2) and beta (PHKB) are regulatory subunits, gamma (PHKG1 or PHKG2) is the catalytic subunit, and delta is calmodulin

    Alternative splice isoforms for PHKA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHKA1 Gene

Proteomics data for PHKA1 Gene at MOPED

Post-translational modifications for PHKA1 Gene

  • Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHKA1 Gene

No data available for DME Specific Peptides for PHKA1 Gene

Domains for PHKA1 Gene

Suggested Antigen Peptide Sequences for PHKA1 Gene

Graphical View of Domain Structure for InterPro Entry

P46020

UniProtKB/Swiss-Prot:

KPB1_HUMAN :
  • P46020
Family:
  • Belongs to the phosphorylase b kinase regulatory chain family.
genes like me logo Genes that share domains with PHKA1: view

No data available for Gene Families for PHKA1 Gene

Function for PHKA1 Gene

Molecular function for PHKA1 Gene

GENATLAS Biochemistry: phosphorylase kinase,alpha 1 subunit,muscle,glycogen catabolism
UniProtKB/Swiss-Prot EnzymeRegulation: By phosphorylation of various serine residues. Allosteric regulation by calcium
UniProtKB/Swiss-Prot Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin

Gene Ontology (GO) - Molecular Function for PHKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004689 phosphorylase kinase activity TAS 8226841
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with PHKA1: view
genes like me logo Genes that share phenotypes with PHKA1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PHKA1 Gene

Localization for PHKA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHKA1 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHKA1 Gene COMPARTMENTS Subcellular localization image for PHKA1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 1

Gene Ontology (GO) - Cellular Components for PHKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with PHKA1: view

Pathways for PHKA1 Gene

genes like me logo Genes that share pathways with PHKA1: view

Pathways by source for PHKA1 Gene

UniProtKB/Swiss-Prot P46020-KPB1_HUMAN

  • Pathway: Glycan biosynthesis; glycogen metabolism

Gene Ontology (GO) - Biological Process for PHKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0005976 polysaccharide metabolic process --
GO:0005977 glycogen metabolic process TAS 7874115
GO:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
genes like me logo Genes that share ontologies with PHKA1: view

Compounds for PHKA1 Gene

(1) HMDB Compounds for PHKA1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with PHKA1: view

Transcripts for PHKA1 Gene

Unigene Clusters for PHKA1 Gene

Phosphorylase kinase, alpha 1 (muscle):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHKA1 Gene

No ASD Table

Relevant External Links for PHKA1 Gene

GeneLoc Exon Structure for
PHKA1
ECgene alternative splicing isoforms for
PHKA1

Expression for PHKA1 Gene

mRNA expression in normal human tissues for PHKA1 Gene

mRNA differential expression in normal tissues according to GTEx for PHKA1 Gene

This gene is overexpressed in Muscle - Skeletal (15.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHKA1 Gene

SOURCE GeneReport for Unigene cluster for PHKA1 Gene Hs.201379

mRNA Expression by UniProt/SwissProt for PHKA1 Gene

P46020-KPB1_HUMAN
Tissue specificity: Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested
genes like me logo Genes that share expressions with PHKA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PHKA1 Gene

Orthologs for PHKA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHKA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHKA1 35
  • 97.02 (n)
  • 96.14 (a)
PHKA1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PHKA1 35
  • 93.62 (n)
  • 95.01 (a)
PHKA1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHKA1 35
  • 92.91 (n)
  • 95.34 (a)
PHKA1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phka1 35
  • 91.39 (n)
  • 94.85 (a)
Phka1 16
Phka1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHKA1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Phka1 35
  • 91.17 (n)
  • 93.7 (a)
chicken
(Gallus gallus)
Aves PHKA1 35
  • 72.66 (n)
  • 78.09 (a)
PHKA1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.31944 35
tropical clawed frog
(Silurana tropicalis)
Amphibia phka1 35
  • 71.21 (n)
  • 78.62 (a)
zebrafish
(Danio rerio)
Actinopterygii phka1 35
  • 68.23 (n)
  • 71.25 (a)
si:dkey-22f5.10 36
  • 65 (a)
ManyToMany
wufl37h01 35
fruit fly
(Drosophila melanogaster)
Insecta CG7766 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea C14B9.8 37
  • 40 (a)
Species with no ortholog for PHKA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PHKA1 Gene

ENSEMBL:
Gene Tree for PHKA1 (if available)
TreeFam:
Gene Tree for PHKA1 (if available)

Paralogs for PHKA1 Gene

Paralogs for PHKA1 Gene

Selected SIMAP similar genes for PHKA1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PHKA1 Gene

genes like me logo Genes that share paralogs with PHKA1: view

Variants for PHKA1 Gene

Sequence variations from dbSNP and Humsavar for PHKA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1883070 -- 72,609,523(+) TGAAC(A/C)TATGT intron-variant
rs2272781 -- 72,656,321(+) ACGGG(C/T)TTTCA intron-variant
rs2369215 -- 72,597,402(+) TTTAT(G/T)AGGTT intron-variant
rs2369216 -- 72,658,790(+) gtgca(C/T)tgtat intron-variant
rs2369217 -- 72,675,635(+) TTGAA(C/T)AGTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHKA1 Gene

Variant ID Type Subtype PubMed ID
esv2663199 CNV Deletion 23128226

Relevant External Links for PHKA1 Gene

HapMap Linkage Disequilibrium report
PHKA1
Human Gene Mutation Database (HGMD)
PHKA1
Locus Specific Mutation Databases (LSDB)
PHKA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHKA1 Gene

Disorders for PHKA1 Gene

(1) OMIM Diseases for PHKA1 Gene (311870)

UniProtKB/Swiss-Prot

KPB1_HUMAN
  • Glycogen storage disease 9D (GSD9D) [MIM:300559]: A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria. {ECO:0000269 PubMed:12825073}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PHKA1 Gene

genes like me logo Genes that share disorders with PHKA1: view

Publications for PHKA1 Gene

  1. The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. (PMID: 8226841) Wuellrich A. … Kilimann M.W. (J. Biol. Chem. 1993) 3 4 23
  2. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (PMID: 12825073) Burwinkel B. … Kilimann M.W. (Eur. J. Hum. Genet. 2003) 3 4
  3. Muscle phosphorylase b kinase deficiency revisited. (PMID: 20080404) Echaniz-Laguna A. … Dimauro S. (Neuromuscul. Disord. 2010) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for PHKA1 Gene

  • Addgene plasmids for PHKA1

Sources for PHKA1 Gene

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