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Aliases for PHKA1 Gene

Aliases for PHKA1 Gene

  • Phosphorylase Kinase, Alpha 1 (Muscle) 2 3 5
  • Phosphorylase Kinase Alpha M Subunit 3 4
  • PHKA 3 4
  • 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 Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Glucagon signaling pathway. 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

Enhancers for PHKA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PHKA1 on UCSC Golden Path with GeneCards custom track

Promoters for PHKA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHKA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PHKA1 Gene

Chromosome:
X
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

Genes around PHKA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHKA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Abcam antibodies for PHKA1

No data available for DME Specific Peptides for PHKA1 Gene

Domains & Families for PHKA1 Gene

Suggested Antigen Peptide Sequences for PHKA1 Gene

Graphical View of Domain Structure for InterPro Entry

P46020

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for PHKA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
cytosol 5
plasma membrane 3
nucleus 1

Gene Ontology (GO) - Cellular Components for PHKA1 Gene

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

Pathways & Interactions for PHKA1 Gene

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

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:0005980 glycogen catabolic process TAS --
GO:0006006 glucose metabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 7874115
GO:0044281 small molecule metabolic process TAS --
GO:0046777 protein autophosphorylation IEA --
genes like me logo Genes that share ontologies with PHKA1: view

No data available for SIGNOR curated interactions for PHKA1 Gene

Drugs & Compounds for PHKA1 Gene

(1) Drugs for PHKA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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 (x15.0).

Protein differential expression in normal tissues from HIPED for PHKA1 Gene

This gene is overexpressed in Breast (14.3), Stomach (6.9), and Neutrophil (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PHKA1: view

Protein tissue co-expression partners for PHKA1 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia PHKA1 35
  • 97.02 (n)
  • 96.14 (a)
PHKA1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phka1 35
  • 91.17 (n)
  • 93.7 (a)
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
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
tropical clawed frog
(Silurana tropicalis)
Amphibia phka1 35
  • 71.21 (n)
  • 78.62 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31944 35
zebrafish
(Danio rerio)
Actinopterygii phka1 35
  • 68.23 (n)
  • 71.25 (a)
wufl37h01 35
si:dkey-22f5.10 36
  • 65 (a)
ManyToMany
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

(2) 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
VAR_020856 Glycogen storage disease 9D (GSD9D)
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

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

Variant ID Type Subtype PubMed ID
esv2663199 CNV Deletion 23128226

Variation tolerance for PHKA1 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.81; 73.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHKA1 Gene

Human Gene Mutation Database (HGMD)
PHKA1

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

Disorders for PHKA1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PHKA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscle glycogenosis
  • muscle phosphorylase kinase deficiency
glycogen storage disease due to muscle phosphorylase kinase deficiency
  • glycogen storage disease type ixd
phka1-related phosphorylase kinase deficiency
  • glycogen storage disease type ixd
glycogen storage disease viii
  • glycogen storage disease type viii
phosphorylase kinase deficiency
  • glycogen storage disease type ix
- elite association - COSMIC cancer census association via MalaCards
Search PHKA1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PHKA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHKA1
genes like me logo Genes that share disorders with PHKA1: view

No data available for Genatlas for PHKA1 Gene

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 67
  2. Muscle phosphorylase b kinase deficiency revisited. (PMID: 20080404) Echaniz-Laguna A. … Dimauro S. (Neuromuscul. Disord. 2010) 3 23
  3. Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2. (PMID: 25476789) Galligan J.T. … Howley P.M. (J. Proteome Res. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for PHKA1 Gene

Sources for PHKA1 Gene

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