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 is... See more...

Aliases for PHKA1 Gene

Aliases for PHKA1 Gene

  • Phosphorylase Kinase Regulatory Subunit Alpha 1 2 3 5
  • Phosphorylase B Kinase Regulatory Subunit Alpha, Skeletal Muscle Isoform 3 4
  • Phosphorylase Kinase Alpha M Subunit 3 4
  • PHKA 3 4
  • Phosphorylase Kinase, Alpha 1 (Muscle), Muscle Glycogenosis 3
  • Phosphorylase Kinase, Alpha 1 (Muscle) 2
  • PHKA1 5

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 Regulatory Subunit Alpha 1) is a Protein Coding gene. Diseases associated with PHKA1 include Glycogen Storage Disease, Type Ixd and Phosphorylase Kinase Deficiency. Among its related pathways are Activation of cAMP-Dependent PKA and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include calmodulin binding and phosphorylase kinase activity. An important paralog of this gene is PHKA2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHKA1 Gene

Genomics for PHKA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PHKA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ072713 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 119 3.2 CREB1 PRDM10 ZNF692 ZNF776 ZIC2 ZSCAN4 RBFOX2 ZNF600 ZNF341 ZFX PHKA1 CHIC1 RTL5 HDAC8 NAP1L2 MN298114-319
GH0XJ072711 Enhancer 0.6 ENCODE 0.7 +2.1 2089 0.7 JUND ZNF600 SCRT2 ZNF316 OSR2 MAFG ZNF189 MAFK NFE2 TBL1XR1 MN298114-319 MN298678-171 PHKA1 PHKA1-AS1 HDAC8
GH0XJ072684 Enhancer 0.6 Ensembl ENCODE 0.3 +28.4 28411 2.1 CTBP1 ZNF217 DPF2 RCOR1 JUND SMARCE1 FAM226B PHKA1-AS1 piR-49732-628 PHKA1 HDAC8
GH0XJ072717 Enhancer 0.3 Ensembl 0.7 -2.8 -2782 0.2 HNF4A HSALNG0138566 PHKA1 lnc-PHKA1-2 DMRTC1B
GH0XJ072694 Enhancer 0.3 Ensembl 0.4 +19.8 19818 0.2 FOSL2 FOS RF00998-148 lnc-DMRTC1B-2 PHKA1-AS1 PHKA1 HDAC8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHKA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHKA1

Top Transcription factor binding sites by QIAGEN in the PHKA1 gene promoter:
  • GATA-1
  • GATA-2
  • GATA-3
  • HOXA9
  • HOXA9B
  • Meis-1
  • MIF-1
  • Pax-6
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PHKA1 Gene

Genomic Locations for PHKA1 Gene
chrX:72,578,814-72,714,319
(GRCh38/hg38)
Size:
135,506 bases
Orientation:
Minus strand
chrX:71,798,664-71,934,167
(GRCh37/hg19)
Size:
135,504 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

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

No data available for DME Specific Peptides for PHKA1 Gene

Domains & Families for PHKA1 Gene

Gene Families for PHKA1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PHKA1 Gene

InterPro:
Blocks:
  • Phosphorylase kinase alphabeta
ProtoNet:

Suggested Antigen Peptide Sequences for PHKA1 Gene

GenScript: Design optimal peptide antigens:
  • Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform (KPB1_HUMAN)

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

Function for PHKA1 Gene

Molecular function for PHKA1 Gene

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

Phenotypes From GWAS Catalog for PHKA1 Gene

Gene Ontology (GO) - Molecular Function for PHKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004689 phosphorylase kinase activity IBA,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

Human Phenotype Ontology for PHKA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKA1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHKA1 gene
Compartment Confidence
cytosol 4
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 --
GO:0005964 phosphorylase kinase complex IBA 21873635
GO:0016020 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

Pathways by source for PHKA1 Gene

2 GeneGo (Thomson Reuters) pathways for PHKA1 Gene
  • Development Beta-adrenergic receptors signaling via cAMP
  • Signal transduction cAMP signaling
4 Qiagen pathways for PHKA1 Gene
  • Activation of cAMP-Dependent PKA
  • Alpha-Adrenergic Signaling
  • cAMP Pathway
  • PKA Signaling

UniProtKB/Swiss-Prot P46020-KPB1_HUMAN

  • Pathway: Glycan biosynthesis; glycogen metabolism.

SIGNOR curated interactions for PHKA1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PHKA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process TAS 7874115
GO:0005980 glycogen catabolic process TAS --
GO:0006091 generation of precursor metabolites and energy TAS 7874115
GO:0006468 protein phosphorylation IBA,IEA --
genes like me logo Genes that share ontologies with PHKA1: view

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 6556
genes like me logo Genes that share compounds with PHKA1: view

Transcripts for PHKA1 Gene

mRNA/cDNA for PHKA1 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHKA1

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

No ASD Table

Relevant External Links for PHKA1 Gene

GeneLoc Exon Structure for
PHKA1

Expression for PHKA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PHKA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for PHKA1 Gene



Protein tissue co-expression partners for PHKA1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHKA1

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.

Evidence on tissue expression from TISSUES for PHKA1 Gene

  • Muscle(4.6)
  • Nervous system(4.3)
  • Liver(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHKA1 Gene

Germ Layers:
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
genes like me logo Genes that share expression patterns with PHKA1: view

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 30 31
  • 97.02 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PHKA1 30 31
  • 93.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PHKA1 30 31
  • 92.91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Phka1 30 17 31
  • 91.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Phka1 30
  • 91.17 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 90 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia PHKA1 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PHKA1 30 31
  • 72.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 90 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia phka1 30
  • 71.21 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31944 30
Zebrafish
(Danio rerio)
Actinopterygii phka1 30
  • 68.23 (n)
si:dkey-22f5.10 31
  • 65 (a)
ManyToMany
wufl37h01 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7766 32
  • 45 (a)
Worm
(Caenorhabditis elegans)
Secernentea C14B9.8 32
  • 40 (a)
Species where no ortholog for PHKA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PHKA1: view image

Paralogs for PHKA1 Gene

Paralogs for PHKA1 Gene

(2) SIMAP similar genes for PHKA1 Gene using alignment to 3 proteins:

  • KPB1_HUMAN
  • A6NIT2_HUMAN
  • A6NMN0_HUMAN

Pseudogenes.org Pseudogenes for PHKA1 Gene

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

Variants for PHKA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHKA1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
653798 Uncertain Significance: Glycogen storage disease IXd 72,713,852(-) C/T MISSENSE_VARIANT
653856 Likely Pathogenic: Glycogen storage disease IXd 72,609,704(-) C/A SPLICE_ACCEPTOR_VARIANT
658545 Uncertain Significance: Glycogen storage disease IXd 72,584,289(-) G/T MISSENSE_VARIANT
661959 Uncertain Significance: Glycogen storage disease IXd 72,605,371(-) C/T MISSENSE_VARIANT
667853 Benign: not provided 72,627,224(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PHKA1 Gene

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)

Additional Variant Information for PHKA1 Gene

Human Gene Mutation Database (HGMD)
PHKA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHKA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for PHKA1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PHKA1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease, type ixd
  • gsd9d
phosphorylase kinase deficiency
  • glycogen storage disease type ix
glycogen storage disease
  • gsd
glycogen storage disease viii
  • glycogen storage disease type viii
glycogen storage disease ixa
  • glycogen storage disease type 9a
- 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.
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) Wüllrich A … Kilimann MW (The Journal of biological chemistry 1993) 3 4 23
  2. Muscle phosphorylase b kinase deficiency revisited. (PMID: 20080404) Echaniz-Laguna A … Dimauro S (Neuromuscular disorders : NMD 2010) 3 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. 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 MW (European journal of human genetics : EJHG 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for PHKA1 Gene

Sources for PHKA1 Gene