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    ALPK3 alpha kinase 3 [ Homo sapiens (human) ]

    Gene ID: 57538, updated on 27-Nov-2024

    Summary

    Official Symbol
    ALPK3provided by HGNC
    Official Full Name
    alpha kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:17574
    See related
    Ensembl:ENSG00000136383 MIM:617608; AllianceGenome:HGNC:17574
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAK; CMH27; MIDORI
    Summary
    Predicted to enable ATP binding activity; histone H2AS1 kinase activity; and protein serine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in familial hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart (RPKM 20.7), fat (RPKM 9.4) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALPK3 in Genome Data Viewer
    Location:
    15q25.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84817356..84873479)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82569719..82625867)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85360587..85416710)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85229719-85230218 Neighboring gene SEC11 homolog A, signal peptidase complex subunit Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85259023-85259588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85259589-85260154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85260155-85260718 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:85276857-85277760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9991 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85291347-85292186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9992 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85303845-85304346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85309319-85309820 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85309821-85310320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9993 Neighboring gene zinc finger protein 592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85325731-85326318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85326319-85326906 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85346873-85347374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85347375-85347874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85359685-85360215 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85362343-85362874 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85362875-85363404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85370192-85370692 Neighboring gene skeletal muscle cis-regulatory module overlapping ALPK3 Neighboring gene uncharacterized LOC124900361 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:85405349-85405850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85406419-85406920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85406921-85407420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85426972-85427472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85427473-85427973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85432908-85433476 Neighboring gene solute carrier family 28 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85467385-85467885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9995 Neighboring gene RNA, U6 small nuclear 339, pseudogene Neighboring gene RNA, U6 small nuclear 796, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cardiomyopathy, familial hypertrophic 27
    MedGen: C4748014 OMIM: 618052 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12881, FLJ21176, KIAA1330

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ribosomal protein S6 kinase 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
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    alpha-protein kinase 3
    Names
    muscle alpha-kinase
    muscle alpha-protein kinase
    myocyte induction differentiation originator
    NP_065829.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_054748.1 RefSeqGene

      Range
      5726..61849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020778.5NP_065829.4  alpha-protein kinase 3

      Status: VALIDATED

      Source sequence(s)
      AC012291, AC103741, AK024829, AY044449
      Consensus CDS
      CCDS10333.2
      UniProtKB/Swiss-Prot
      Q96L96, Q9P2L6
      Related
      ENSP00000258888.6, ENST00000258888.6
      Conserved Domains (5) summary
      PHA03378
      Location:16241705
      PHA03378; EBNA-3B; Provisional
      cd00096
      Location:13061359
      Ig; Immunoglobulin domain
      cl28917
      Location:13831617
      Alpha_kinase; Alpha kinase family
      pfam03154
      Location:578950
      Atrophin-1; Atrophin-1 family
      pfam07679
      Location:77169
      I-set; Immunoglobulin I-set domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      84817356..84873479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      82569719..82625867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)