ALPK3 alpha kinase 3 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.
Title: Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.
MicroRNA-384-5p protects against cardiac hypertrophy via the ALPK3 signaling pathway.
Title: MicroRNA-384-5p protects against cardiac hypertrophy via the ALPK3 signaling pathway.
A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.
Title: A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Title: Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Title: Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Title: Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Phenotypic spectrum of ALPK3-related cardiomyopathy in a consanguineous family from Oman has been reported.
Title: Phenotypic spectrum of ALPK3-related cardiomyopathy.
ALPK3 should be included in the list of genes to be considered in genetic studies for patients affected with pediatric syndromic cardiomyopathy.
Title: Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
ALPK3 variant segregated with hypertrophic cardiomyopathy in 3 affected members of the family.
Title: A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Title: Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145472 (e-PCR)
- UniSTS:174595

STS-AA019539 (e-PCR)
- UniSTS:5917

SHGC-108121 (e-PCR)
- UniSTS:170558

WI-18039 (e-PCR)
- UniSTS:55684

RH41993 (e-PCR)
- UniSTS:42129

D15S653 (e-PCR)
- UniSTS:53144

MIDORI__6315 (e-PCR)
- UniSTS:464053

A007D25 (e-PCR)
- UniSTS:44221

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

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Preferred Names: alpha-protein kinase 3

Names: muscle alpha-kinase; muscle alpha-protein kinase; myocyte induction differentiation originator

NP_065829.4

EC 2.7.11.1

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.

Genomic

NG_054748.1 RefSeqGene

Range

5726..61849

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020778.5 → NP_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:1624 → 1705

PHA03378; EBNA-3B; Provisional

cd00096
Location:1306 → 1359

Ig; Immunoglobulin domain

cl28917
Location:1383 → 1617

Alpha_kinase; Alpha kinase family

pfam03154
Location:578 → 950

Atrophin-1; Atrophin-1 family

pfam07679
Location:77 → 169

I-set; Immunoglobulin I-set domain