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    Alpk3 alpha-kinase 3 [ Mus musculus (house mouse) ]

    Gene ID: 116904, updated on 12-May-2024

    Summary

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    Official Symbol
    Alpk3provided by MGI
    Official Full Name
    alpha-kinase 3provided by MGI
    Primary source
    MGI:MGI:2151224
    See related
    Ensembl:ENSMUSG00000038763 AllianceGenome:MGI:2151224
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MAK; Midori; mKIAA1330; D330016D04
    Summary
    Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in cardiac muscle cell differentiation. Acts upstream of or within cardiac muscle cell development. Located in nucleus. Is expressed in several structures, including brain; foregut; lung; skeletal muscle; and testis. Human ortholog(s) of this gene implicated in hypertrophic cardiomyopathy. Orthologous to human ALPK3 (alpha kinase 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart adult (RPKM 12.1), limb E14.5 (RPKM 1.2) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Alpk3 in Genome Data Viewer
    Location:
    7 D3; 7 45.71 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (80707321..80755360)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (81057469..81105612)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32178 Neighboring gene karyopherin alpha 7 (importin alpha 8) pseudogene Neighboring gene zinc finger protein 592 Neighboring gene STARR-seq mESC enhancer starr_19350 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:88220222-88220409 Neighboring gene predicted gene, 51490 Neighboring gene solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 Neighboring gene STARR-seq mESC enhancer starr_19353 Neighboring gene STARR-positive B cell enhancer mm9_chr7:88299922-88300223 Neighboring gene NADH:ubiquinone oxidoreductase subunit S6B Neighboring gene STARR-seq mESC enhancer starr_19358 Neighboring gene predicted gene 44968

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere. Agarwal R, et al. Circulation, 2022 Nov 29. PMID 36321451, Free PMC Article
    2. Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice. Van Sligtenhorst I, et al. Vet Pathol, 2012 Jan. PMID 21441111
    3. A novel myocyte-specific gene Midori promotes the differentiation of P19CL6 cells into cardiomyocytes. Hosoda T, et al. J Biol Chem, 2001 Sep 21. PMID 11418590
    4. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ALPK3 plays a role in establishing normal structure and function of the myocardium.
      Title: Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice.
    2. Cardiomyopathy developed in mice deficient for alpha-kinase 3 (ALPK3)
      Title: Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1330

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cardiac muscle cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cardiac muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cardiac muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-protein kinase 3
    Names
    myocyte induction differentiation originator
    myocytic induction/differentiation originator
    NP_473426.2
    XP_017177424.1
    XP_017177425.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_054085.2 → NP_473426.2  alpha-protein kinase 3

      Status: VALIDATED

      Source sequence(s)
      AC109220
      Consensus CDS
      CCDS40004.1
      UniProtKB/Swiss-Prot
      D3YUT2, Q5DTY6, Q8C7A3, Q924C5
      Related
      ENSMUSP00000102971.2, ENSMUST00000107348.2
      Conserved Domains (4) summary
      smart00408
      Location:90 → 159
      IGc2; Immunoglobulin C-2 Type
      smart00811
      Location:1372 → 1592
      Alpha_kinase; Alpha-kinase family
      pfam07679
      Location:77 → 169
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:1285 → 1330
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      80707321..80755360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321935.3 → XP_017177424.1  alpha-protein kinase 3 isoform X1

      Conserved Domains (6) summary
      PLN02543
      Location:1141 → 1213
      PLN02543; pfkB-type carbohydrate kinase family protein
      PHA03378
      Location:1586 → 1662
      PHA03378; EBNA-3B; Provisional
      pfam05109
      Location:433 → 577
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd00096
      Location:1270 → 1323
      Ig; Immunoglobulin domain
      cl28917
      Location:1347 → 1579
      Alpha_kinase; Alpha kinase family
      pfam07679
      Location:64 → 156
      I-set; Immunoglobulin I-set domain

    2. XM_017321936.3 → XP_017177425.1  alpha-protein kinase 3 isoform X2

      Conserved Domains (6) summary
      PLN02543
      Location:1097 → 1169
      PLN02543; pfkB-type carbohydrate kinase family protein
      PHA03378
      Location:1542 → 1618
      PHA03378; EBNA-3B; Provisional
      pfam05109
      Location:389 → 533
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd00096
      Location:1226 → 1279
      Ig; Immunoglobulin domain
      cl28917
      Location:1303 → 1535
      Alpha_kinase; Alpha kinase family
      pfam07679
      Location:20 → 112
      I-set; Immunoglobulin I-set domain

    RNA

    1. XR_001785466.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q924C5.2 GenPept UniProtKB/Swiss-Prot:Q924C5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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