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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PHKA1 Gene

protein-coding   GIFtS: 63
GCID: GC0XM071715

Phosphorylase Kinase, Alpha 1 (Muscle)


(Previous symbol: PHKA)
  7 related diseases
at
MalaCards
 

Aliases
for PHKA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Phosphorylase Kinase, Alpha 1 (Muscle)1 2
PHKA1 2 3
Phosphorylase Kinase Alpha M Subunit2 3
Phosphorylase B Kinase Regulatory Subunit Alpha Skeletal Muscle Isoform2
Phosphorylase B Kinase Regulatory Subunit Alpha, Skeletal Muscle Isoform2
Phosphorylase Kinase, Alpha 1 (Muscle), Muscle Glycogenosis2

External Ids:    HGNC: 89251   Entrez Gene: 52552   Ensembl: ENSG000000671777   OMIM: 3118705   UniProtKB: P460203   

Export aliases for PHKA1 gene to outside databases

Previous GC identifers: GC0XM067527 GC0XM069035 GC0XM070033 GC0XM070667 GC0XM071583 GC0XM065553


Summaries
for PHKA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 muscle phosphorylase kinase deficiency, and among its related super-pathways are Glycogen Metabolism and Activation of cAMP-Dependent PKA. GO annotations related to this gene include phosphorylase kinase activity and calmodulin binding. An important paralog of this gene is PHKA2.

UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020
Function: 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 (Phosphorylase kinase, alpha 1) Gene


Genomic Views
for PHKA1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011669.17  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHKA1 gene promoter:
         HOXA9   HOXA9B   GATA-3   Pax-6   MIF-1   GATA-2   GATA-1   PPAR-gamma1   PPAR-gamma2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHKA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PHKA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHKA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq12-q13   Ensembl cytogenetic band:  Xq13.2   HGNC cytogenetic band: Xq12-q13

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM071715:  view genomic region     (about GC identifiers)

Start:
 71,798,664 bp from pter      End:
 71,934,167 bp from pter
Size:
 135,504 bases      Orientation:
 minus strand

Proteins
for PHKA1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020 (See protein sequence)
Recommended Name: Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform  
Size: 1223 amino acids; 137312 Da
Subunit: 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
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
Secondary accessions: B7ZL05 B7ZL07 Q2M3D7
Alternative splicing: 3 isoforms:  P46020-1   P46020-2   P46020-3   

Explore the universe of human proteins at neXtProt for PHKA1: NX_P46020

Explore proteomics data for PHKA1 at MOPED 

Post-translational modifications:

  • UniProtKB: Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not
    • methylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P46020

    • PHKA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PHKA1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001116142.1  NP_001165907.1  NP_002628.2  

    ENSEMBL proteins: 
     ENSP00000362643   ENSP00000362646   ENSP00000362640   ENSP00000342469   ENSP00000441251  
    Reactome Protein details: P46020
    Human Recombinant Protein Products for PHKA1: 
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    Novus Biologicals PHKA1 Protein
    Novus Biologicals PHKA1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    PHKA1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for PHKA1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 4 InterPro protein domains:
     IPR008734 PHK_A/B_su
     IPR011613 Glyco_hydro_15
     IPR012341 6hp_glycosidase
     IPR008928 6-hairpin_glycosidase-like

    Graphical View of Domain Structure for InterPro Entry P46020

    ProtoNet protein and cluster: P46020

    1 Blocks protein domain: IPB008734 Phosphorylase kinase alphabeta

    UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020
    Similarity: Belongs to the phosphorylase b kinase regulatory chain family


    PHKA1 for domains           About GeneDecksing


    Function
    for PHKA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KPB1_HUMAN, P46020
    Function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I.
    The alpha chain may bind calmodulin
    Enzyme regulation: By phosphorylation of various serine residues. Allosteric regulation by calcium

         Genatlas biochemistry entry for PHKA1:
    phosphorylase kinase,alpha 1 subunit,muscle,glycogen catabolism

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds IEA--
    GO:0004689phosphorylase kinase activity TAS8226841
    GO:0005516calmodulin binding IEA--
         
    PHKA1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PHKA1:
     Increased HPV18 LCR reporter a  Upregulation of Wnt/beta-caten 

         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Phka1):
     homeostasis/metabolism  muscle 

    PHKA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PHKA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PHKA1

    miRNA
    Products:        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHKA1
    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKA1 (see all 39):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-136 hsa-miR-15a hsa-miR-372 hsa-miR-124 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmid: PHKA1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PHKA1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of PHKA1
                         Customized adenovirus for potent knockdown of PHKA1

    Clone
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    OriGene clones in human, mouse for PHKA1 (see all 15)
    OriGene ORF clones in mouse, rat for PHKA1
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    GenScript: all cDNA clones in your preferred vector (see all 3): PHKA1 (NM_002637)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHKA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHKA1

    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA1


    Pathways & Interactions
    for PHKA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PHKA1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycogen breakdown (glycogenolysis)
    		Glycogen breakdown (glycogenolysis)0.34
    		Glycogen Metabolism0.34
    2Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA0.77
    		PKA Signaling0.56
    		cAMP Pathway0.77
    3Glucose metabolism
    		Glucose metabolism0.50
    4MPS IIIC - Sanfilippo syndrome C
    		Metabolism of carbohydrates0.48
    5Signal transduction cAMP signaling
    		Signal transduction cAMP signaling0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PHKA1
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PHKA1
        PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA
    Alpha-Adrenergic Signaling

    2 GeneGo (Thomson Reuters) Pathways for PHKA1
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling

    1 BioSystems Pathway for PHKA1
        Glycogen Metabolism

    4        Reactome Pathways for PHKA1
        Metabolism of carbohydrates
    Glycogen breakdown (glycogenolysis)
    Metabolism
    Glucose metabolism


    2         Kegg Pathways  (Kegg details for PHKA1):
        Calcium signaling pathway
    Insulin signaling pathway

    UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020
    Pathway: Glycan biosynthesis; glycogen metabolism


    PHKA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PHKA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/23 Interacting proteins for PHKA1 (P460203 ENSP000003626434) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    PHKG1ENSP000002973734STRING: ENSP00000297373
    PYGBENSP000002169624STRING: ENSP00000216962
    PYGMENSP000001641394STRING: ENSP00000164139
    GYG1ENSP000003407364STRING: ENSP00000340736
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005976polysaccharide metabolic process ----
    GO:0005977glycogen metabolic process TAS7874115
    GO:0005980glycogen catabolic process TAS--
    GO:0006006glucose metabolic process TAS--

    PHKA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PHKA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PHKA1 (KPB1)

    1 HMDB Compound for PHKA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about PHKA1 / KPB1

    Transcripts
    for PHKA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PHKA1 gene (3 alternative transcripts): 
    NM_001122670.1  NM_001172436.1  NM_002637.3  

    Unigene Cluster for PHKA1:

    Phosphorylase kinase, alpha 1 (muscle)
    Hs.201379  [show with all ESTs]
    Unigene Representative Sequence: NM_002637
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373542(uc010nll.3) ENST00000373545(uc011mqi.2) ENST00000373539
    ENST00000339490(uc004eax.4 uc004eay.4) ENST00000541944
    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate PHKA1 (see all 39):
    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-136 hsa-miR-15a hsa-miR-372 hsa-miR-124 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmid: PHKA1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PHKA1
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    Clone
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    Primer
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    Additional mRNA sequence: 

    BC104944.1 BC143499.1 BC143501.1 BX647542.1 X73874.1 X73878.1 

    5 DOTS entries:

    DT.211310  DT.310007  DT.91748065  DT.121295709  DT.99965577 

    24/91 AceView cDNA sequences (see all 91):

    BF222834 CK821186 BI963942 BX647542 X73878 AU125639 BI964104 BX116981 
    BQ576295 BX950979 AA247817 BE619283 AU125725 AA719684 R30663 BM824020 
    BX113174 AA989233 AI524313 AL699144 AA582145 BX499537 AW833974 BF475654 

    GeneLoc Exon Structure


    Expression
    for PHKA1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PHKA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGGTGCCA
    PHKA1 Expression
    About this image


    See PHKA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHKA1

    SOURCE GeneReport for Unigene cluster: Hs.201379

    UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020
    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

        SABiosciences Expression via Pathway-Focused PCR Array including PHKA1: 
              Glucose Metabolism in human mouse rat

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHKA1

    Orthologs
    for PHKA1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PHKA1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Phka11 , 5 phosphorylase kinase alpha 11, 5 91.39(n)1
    94.85(a)1    		   X (45.47 cM)5
    186791  NM_008832.21  NP_032858.21 
     1025139755 
    chicken
    (Gallus gallus)    		 Aves PHKA11 phosphorylase kinase, alpha 1 (muscle) 72.95(n)
    78.6(a)    		   422181  XM_003641090.1  XP_003641138.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    PHKA16
    		 phosphorylase kinase, alpha 1 (muscle)
    		 90(a)
    68(a)
    		 possible ortholog
    1 ↔ 1
    		 GL344585.1(21-12440)
    GL343686.1(255036-268943)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.319442 Xenopus laevis transcribed sequence with weak similarity more 75.89(n)    CF522108.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufl37h012 wufl37h01 72.05(n)   386818  57093902 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG77663 phosphorylase kinase, regulator 45(a)     --
    worm
    (Caenorhabditis elegans)    		 Secernentea C14B9.83 Phosphorylase kinase 40(a)   III(8211651-8216537)   --


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

    Paralogs
    for PHKA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PHKA1 gene
    PHKA22  PHKB2  
    2 SIMAP similar genes for PHKA1 using alignment to 3 protein entries:     KPB1_HUMAN (see all proteins):
    PHKA2    PHKB

    PHKA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PHKA1
    PGOHUM00000244096


    Genomic Variants
    for PHKA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1505 SNPs in PHKA1 are shown (see all 1505)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0208564
    		Glycogen storage disease 9D (GSD9D)4--see VAR_0208562 D V mis40--------
    rs1861953571,2
    		--71803968(+) GGTGGC/TGCATG 3 -- ds50010--------
    rs1890027721,2
    		--71804181(+) AAAATA/GTTCCC 3 -- ds50010--------
    rs1822878661,2
    		--71804811(+) TAAAAA/GTGACC 3 -- ut310--------
    rs1389013791,2
    		--71804895(+) CTGTCA/CTCTCT 3 -- ut310--------
    rs1873669091,2
    		--71805078(+) GTAGGA/GAGTTA 3 -- ut310--------
    rs1429251521,2
    		C--71805248(+) TCACAC/TCCCTT 3 -- ut310--------
    rs1907945681,2
    		--71805366(+) ACACAC/TACACA 3 -- ut310--------
    rs1826435501,2
    		--71805745(+) ATTCCC/TTCTCT 3 -- ut310--------
    rs1445386261,2
    		--71805819(+) GCTCCA/GGGCTC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for PHKA1 (71798664 - 71934167 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PHKA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663199CNV Deletion23128226


    Human Gene Mutation Database (HGMD): PHKA1

    Locus Specific Mutation Databases (LSDB): PHKA1
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PHKA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PHKA1 for disorders           About GeneDecksing

    OMIM gene information: 311870   
    OMIM disorders: 300559  
    UniProtKB/Swiss-Prot: KPB1_HUMAN, P46020
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

    7 diseases for PHKA1:    About MalaCards
    muscle glycogenosis    muscle phosphorylase kinase deficiency    phka1-related phosphorylase kinase deficiency    phosphorylase kinase deficiency
    glycogen storage disease    hepatitis    metabolic disorders

    1 disease from the University of Copenhagen DISEASES database for PHKA1:
    Glycogen storage disease

    Export disorders for PHKA1 gene to outside databases

    Publications
    for PHKA1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PHKA1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with PHKA1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8226841)1, 2, 9 Wuellrich A.... Kilimann M.W. (1993)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (PubMed id 12825073)1, 2 Burwinkel B.... Kilimann M.W. (2003)
    4. Muscle phosphorylase b kinase deficiency revisited. (PubMed id 20080404)1, 9 Echaniz-Laguna A....Dimauro S. (2010)
    5. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Muscle phosphorylase kinase deficiency: a neutral meta bolic variant or a disease? (PubMed id 22238410)1 Preisler N....Vissing J. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for PHKA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing PHKA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5255 HGNC: 8925 AceView: PHKA1 Ensembl:ENSG00000067177 euGenes: HUgn5255
    ECgene: PHKA1 Kegg: 5255 H-InvDB: PHKA1

    Other Databases showing PHKA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PHKA1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PHKA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKA1

    Intellectual Property
    for PHKA1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PHKA1 gene:
    Search GeneIP for patents involving PHKA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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