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

Gene ID: 116904, updated on 5-Mar-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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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)
  • Gene trapped (1) 
  • Targeted (2) 
  • Endonuclease-mediated (1) 

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

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