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ALPK3 alpha kinase 3 [ Homo sapiens (human) ]

Gene ID: 57538, updated on 1-Aug-2020

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
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
Expression
Biased expression in heart (RPKM 20.7), fat (RPKM 9.4) and 9 other tissues See more
Orthologs

Genomic context

See ALPK3 in Genome Data Viewer
Location:
15q25.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (84817356..84873479)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85359911..85416713)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SEC11 homolog A, signal peptidase complex subunit Neighboring gene zinc finger protein 592 Neighboring gene skeletal muscle cis-regulatory module overlapping ALPK3 Neighboring gene solute carrier family 28 member 1 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

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Clone Names

  • FLJ12881, FLJ21176, KIAA1330

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiac muscle cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    5050..61852
    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
    CCDS10333.1
    Related
    ENSP00000258888.5, ENST00000258888.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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