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PHKA1 Gene

protein-coding   GIFtS: 63
GCID: GC0XM071798

Phosphorylase Kinase, Alpha 1 (Muscle)


(Previous symbol: PHKA)
  See PHKA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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 GC0XM071715 GC0XM065553


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 phka1-related phosphorylase kinase deficiency. 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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   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 plasmidPHKA1 promoter sequence
   Search Chromatin IP Primers for PHKA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC0XM071798:  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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is
    not methylated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PHKA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    PHKA1 Human Recombinant Protein Products:

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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.

     
    Search eBioscience for Proteins for PHKA1 

     
    antibodies-online proteins for PHKA1 (2 products) 

     
    antibodies-online peptides for PHKA1

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    antibodies-online antibodies for PHKA1 (16 products) 

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    antibodies-online kits for PHKA1 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PHKA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with PHKA1           About GenesLikeMe


    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 

    Find genes that share phenotypes with PHKA1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PHKA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PHKA1:
    hsa-mir-98-5p (MIRT027583), hsa-mir-25-3p (MIRT050362), hsa-let-7b-5p (MIRT052023), hsa-mir-103a-3p (MIRT027122), hsa-mir-421 (MIRT039366), hsa-mir-16-5p (MIRT031657), hsa-mir-769-3p (MIRT039113), hsa-let-7e-5p (MIRT051613), hsa-mir-122-5p (MIRT023317), hsa-mir-484 (MIRT042222)

    Block miRNA regulation of human, mouse, rat PHKA1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidPHKA1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for PHKA1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KPB1_HUMAN, P46020: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with PHKA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PHKA1 About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Glucose metabolism
    Glucose metabolism0.44
    Glycogen breakdown (glycogenolysis)0.00
    3MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    4G Protein Signaling Pathways
    Signal transduction cAMP signaling0.44
    5fMLP Pathway
    Alpha-Adrenergic Signaling0.38


    Find genes that share SuperPaths with PHKA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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

    1 Reactome Pathway for PHKA1
        Glycogen breakdown (glycogenolysis)


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

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

        Pathway & Disease-focused RT2 Profiler PCR Array including PHKA1: 

              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PHKA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PHKA1 (P460203 ENSP000003626434) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    PYGBENSP000002169624STRING: ENSP00000216962
    PYGMENSP000001641394STRING: ENSP00000164139
    GYG1ENSP000003407364STRING: ENSP00000340736
    CALM1ENSP000003494674STRING: ENSP00000349467
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    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--

    Find genes that share ontologies with PHKA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-136 hsa-miR-15a hsa-miR-372 hsa-miR-124 hsa-miR-424
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      QuantiFast Probe-based Assays in human, mouse, rat PHKA1

    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 

    Selected AceView cDNA sequences (see all 91):

    AA719684 BM824020 BE619283 R30663 AU125725 X73878 BI963942 AU125639 
    BF222834 BX116981 BQ576295 AA247817 BX950979 CK821186 BI964104 BX113174 
    BX647542 X73874 BE909540 BU629223 BE713197 BX500341 BI962578 N79002 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    PHKA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHKA1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PHKA1 gene from Selected 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) 72.66(n)
    78.09(a)
      422181  XM_004940598.1  XP_004940655.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    90(a)
    68(a)
    1 ↔ many
    1 ↔ many
    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 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    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

    Find genes that share paralogs with PHKA1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PHKA1
    PGOHUM00000244096


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHKA1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHKA1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 4 diseases for PHKA1:    
    About MalaCards
    muscle glycogenosis    phka1-related phosphorylase kinase deficiency    muscle phosphorylase kinase deficiency    phosphorylase kinase deficiency

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

    Find genes that share disorders with PHKA1           About GenesLikeMe


    Export disorders for PHKA1 gene to outside databases

    (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)
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    PubMed articles for PHKA1 gene, integrated from 10 sources (see all 29):
    (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. (J. Biol. Chem. 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. (Genome Res. 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. (Eur. J. Hum. Genet. 2003)
    4. Muscle phosphorylase b kinase deficiency revisited. (PubMed id 20080404)1, 9 Echaniz-Laguna A....Dimauro S. (Neuromuscul. Disord. 2010)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? (PubMed id 22238410)1 Preisler N....Vissing J. (Neurology 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PHKA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHKA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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