Aliases for ALPK3 Gene

Aliases for ALPK3 Gene

  • Alpha Kinase 3 2 3 5
  • Myocyte Induction Differentiation Originator 2 3
  • Muscle Alpha-Protein Kinase 3 4
  • Alpha-Protein Kinase 3 3 4
  • Muscle Alpha-Kinase 2 3
  • MAK 3 4
  • EC 2.7.11.1 4
  • KIAA1330 4
  • MIDORI 3
  • CMH27 3

External Ids for ALPK3 Gene

Previous GeneCards Identifiers for ALPK3 Gene

  • GC15P083161
  • GC15P085359
  • GC15P061446

Summaries for ALPK3 Gene

GeneCards Summary for ALPK3 Gene

ALPK3 (Alpha Kinase 3) is a Protein Coding gene. Diseases associated with ALPK3 include Cardiomyopathy, Familial Hypertrophic 27 and Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is HMCN1.

UniProtKB/Swiss-Prot Summary for ALPK3 Gene

Additional gene information for ALPK3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALPK3 Gene

Genomics for ALPK3 Gene

GeneHancer (GH) Regulatory Elements for ALPK3 Gene

Promoters and enhancers for ALPK3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALPK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALPK3 gene promoter:
  • CUTL1
  • Evi-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Pax-2
  • RORalpha1
  • Sp1
  • Zic3

Genomic Locations for ALPK3 Gene

Genomic Locations for ALPK3 Gene
chr15:84,816,680-84,873,482
(GRCh38/hg38)
Size:
56,803 bases
Orientation:
Plus strand
chr15:85,359,911-85,416,713
(GRCh37/hg19)
Size:
56,803 bases
Orientation:
Plus strand

Genomic View for ALPK3 Gene

Genes around ALPK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALPK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALPK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALPK3 Gene

Proteins for ALPK3 Gene

  • Protein details for ALPK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L96-ALPK3_HUMAN
    Recommended name:
    Alpha-protein kinase 3
    Protein Accession:
    Q96L96
    Secondary Accessions:
    • Q9P2L6

    Protein attributes for ALPK3 Gene

    Size:
    1907 amino acids
    Molecular mass:
    201272 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ALPK3 Gene

Post-translational modifications for ALPK3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALPK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALPK3 Gene

Domains & Families for ALPK3 Gene

Gene Families for ALPK3 Gene

Suggested Antigen Peptide Sequences for ALPK3 Gene

GenScript: Design optimal peptide antigens:
  • Muscle alpha-protein kinase (ALPK3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96L96

UniProtKB/Swiss-Prot:

ALPK3_HUMAN :
  • Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
Family:
  • Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
genes like me logo Genes that share domains with ALPK3: view

Function for ALPK3 Gene

Molecular function for ALPK3 Gene

UniProtKB/Swiss-Prot Function:
Involved in cardiomyocyte differentiation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.

Enzyme Numbers (IUBMB) for ALPK3 Gene

Phenotypes From GWAS Catalog for ALPK3 Gene

Gene Ontology (GO) - Molecular Function for ALPK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ALPK3: view
genes like me logo Genes that share phenotypes with ALPK3: view

Human Phenotype Ontology for ALPK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALPK3 Gene

MGI Knock Outs for ALPK3:
  • Alpk3 Alpk3<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for ALPK3

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ALPK3 Gene

Localization for ALPK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALPK3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALPK3 gene
Compartment Confidence
nucleus 4
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALPK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with ALPK3: view

Pathways & Interactions for ALPK3 Gene

PathCards logo

SuperPathways for ALPK3 Gene

No Data Available

Interacting Proteins for ALPK3 Gene

Gene Ontology (GO) - Biological Process for ALPK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007275 multicellular organism development IEA --
GO:0007507 heart development ISS --
GO:0016310 phosphorylation IEA --
GO:0055013 cardiac muscle cell development IBA 21873635
genes like me logo Genes that share ontologies with ALPK3: view

No data available for Pathways by source and SIGNOR curated interactions for ALPK3 Gene

Drugs & Compounds for ALPK3 Gene

No Compound Related Data Available

Transcripts for ALPK3 Gene

mRNA/cDNA for ALPK3 Gene

(1) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(91) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALPK3 Gene

No ASD Table

Relevant External Links for ALPK3 Gene

GeneLoc Exon Structure for
ALPK3
ECgene alternative splicing isoforms for
ALPK3

Expression for ALPK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALPK3 Gene

mRNA differential expression in normal tissues according to GTEx for ALPK3 Gene

This gene is overexpressed in Muscle - Skeletal (x19.3) and Heart - Left Ventricle (x7.5).

Protein differential expression in normal tissues from HIPED for ALPK3 Gene

This gene is overexpressed in Cervix (62.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALPK3 Gene



Protein tissue co-expression partners for ALPK3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALPK3 Gene:

ALPK3

SOURCE GeneReport for Unigene cluster for ALPK3 Gene:

Hs.459183

Evidence on tissue expression from TISSUES for ALPK3 Gene

  • Nervous system(4.2)
  • Muscle(3.2)
  • Heart(2.5)
genes like me logo Genes that share expression patterns with ALPK3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALPK3 Gene

Orthologs for ALPK3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALPK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALPK3 33 32
  • 96.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALPK3 33 32
  • 83.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALPK3 33 32
  • 81.23 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alpk3 32
  • 79.84 (n)
mouse
(Mus musculus)
Mammalia Alpk3 17 33 32
  • 79.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALPK3 33
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALPK3 33
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALPK3 33
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALPK3 33
  • 38 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii alpk3a 33
  • 27 (a)
OneToMany
BX001033.2 33
  • 20 (a)
OneToMany
Species where no ortholog for ALPK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALPK3 Gene

ENSEMBL:
Gene Tree for ALPK3 (if available)
TreeFam:
Gene Tree for ALPK3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALPK3: view image

Paralogs for ALPK3 Gene

Paralogs for ALPK3 Gene

genes like me logo Genes that share paralogs with ALPK3: view

Variants for ALPK3 Gene

Sequence variations from dbSNP and Humsavar for ALPK3 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1555435531 pathogenic, CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 84,857,924(+) G/A coding_sequence_variant, stop_gained
rs1555436118 pathogenic, CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 84,864,630(+) G/A coding_sequence_variant, stop_gained
rs16974569 benign, not specified, - 84,856,414(+) C/T coding_sequence_variant, missense_variant
rs187316 benign, not specified, - 84,862,764(+) T/C coding_sequence_variant, missense_variant
rs200889953 likely-pathogenic, Primary familial hypertrophic cardiomyopathy 84,839,087(+) C/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ALPK3 Gene

Variant ID Type Subtype PubMed ID
dgv322n27 CNV gain 19166990
dgv4690n54 CNV gain 21841781
esv2672879 CNV deletion 23128226
esv2760049 CNV loss 17122850
esv3637099 CNV gain 21293372
nsv471257 CNV gain 18288195
nsv524050 CNV loss 19592680

Variation tolerance for ALPK3 Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.55; 91.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALPK3 Gene

Human Gene Mutation Database (HGMD)
ALPK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALPK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALPK3 Gene

Disorders for ALPK3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ALPK3 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic 27
  • cmh27
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
  • wrs
lung large cell carcinoma
  • large cell carcinoma of lung
hypertrophic cardiomyopathy
  • cardiomyopathy, hypertrophic, familial
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search ALPK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALPK3_HUMAN
  • Cardiomyopathy, familial hypertrophic 27 (CMH27) [MIM:618052]: A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early-onset form with features of hypertrophic and dilated cardiomyopathy. {ECO:0000269 PubMed:26846950, ECO:0000269 PubMed:27106955, ECO:0000269 PubMed:28630369, ECO:0000269 PubMed:30046096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALPK3

genes like me logo Genes that share disorders with ALPK3: view

No data available for Genatlas for ALPK3 Gene

Publications for ALPK3 Gene

  1. Alpha-kinases: a new class of protein kinases with a novel catalytic domain. (PMID: 10021370) Ryazanov AG … Dorovkov MV (Current biology : CB 1999) 2 3 4 56
  2. Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. (PMID: 30046096) Jaouadi H … Zaffran S (Journal of human genetics 2018) 3 4 56
  3. ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy. (PMID: 27106955) Phelan DG … Lockhart PJ (European heart journal 2016) 3 4 56
  4. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. (PMID: 26846950) Almomani R … van de Laar IM (Journal of the American College of Cardiology 2016) 3 4 56
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 56

Products for ALPK3 Gene

Sources for ALPK3 Gene