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ALPK3 alpha kinase 3 [ Homo sapiens (human) ]

Gene ID: 57538, updated on 1-Mar-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; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart (RPKM 20.7), fat (RPKM 9.4) and 9 other tissues See more
Orthologs
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Genomic context

See ALPK3 in Genome Data Viewer
Location:
15q25.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84817356..84873479)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82569719..82625867)
105.20220307 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
Compare labs

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 ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine 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 heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in 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 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)

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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.

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_2023_10

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)