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Aliases for ALPK1 Gene

Aliases for ALPK1 Gene

  • Alpha Kinase 1 2 3 5
  • Lymphocyte Alpha-Protein Kinase 3 4
  • Lymphocyte Alpha-Kinase 2 3
  • Chromosome 4 Kinase 3 4
  • LAK 3 4
  • Alpha-Protein Kinase 1 3
  • 8430410J10Rik 3
  • EC 2.7.11.- 4
  • KIAA1527 4

External Ids for ALPK1 Gene

Previous GeneCards Identifiers for ALPK1 Gene

  • GC04P113657
  • GC04P113438
  • GC04P113218
  • GC04P108950

Summaries for ALPK1 Gene

Entrez Gene Summary for ALPK1 Gene

  • This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for ALPK1 Gene

ALPK1 (Alpha Kinase 1) is a Protein Coding gene. Diseases associated with ALPK1 include Gout. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is EEF2K.

UniProtKB/Swiss-Prot for ALPK1 Gene

  • Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation.

Gene Wiki entry for ALPK1 Gene

Additional gene information for ALPK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALPK1 Gene

Genomics for ALPK1 Gene

GeneHancer (GH) Regulatory Elements for ALPK1 Gene

Promoters and enhancers for ALPK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I112282 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.4 +0.8 844 7.6 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B TIFA ALPK1 FAM241A AP1AR LOC109864269 ENSG00000250966 RTEL1P1 LARP7 ZGRF1 GC04P112321
GH04I112296 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.4 +12.1 12089 2.1 ATF1 SMAD1 YY1 POLR2B ZNF143 ATF7 KDM4B RXRA NFYC REST ALPK1 TIFA GC04P112321
GH04I112370 Promoter 0.5 EPDnew 550.2 +85.1 85097 0.1 ALPK1 RTEL1P1 GC04P112446
GH04I112311 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 4 +27.3 27347 1.9 HDGF PKNOX1 BATF IRF4 ZNF207 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 TIFA AP1AR ALPK1 LARP7 GC04P112321
GH04I112279 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -5.7 -5653 1.5 PKNOX1 FOXA2 BMI1 BATF ATF7 BCLAF1 IKZF2 RUNX3 CEBPB JUNB TIFA FAM241A ENSG00000272567 ALPK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALPK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALPK1 gene promoter:

Genomic Locations for ALPK1 Gene

Genomic Locations for ALPK1 Gene
chr4:112,285,509-112,442,620
(GRCh38/hg38)
Size:
157,112 bases
Orientation:
Plus strand
chr4:113,206,665-113,363,776
(GRCh37/hg19)

Genomic View for ALPK1 Gene

Genes around ALPK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALPK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALPK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALPK1 Gene

Proteins for ALPK1 Gene

  • Protein details for ALPK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QP1-ALPK1_HUMAN
    Recommended name:
    Alpha-protein kinase 1
    Protein Accession:
    Q96QP1
    Secondary Accessions:
    • B4E3G1
    • F5H138
    • Q68CI9
    • Q6P9F9
    • Q6ZNK4
    • Q9P201

    Protein attributes for ALPK1 Gene

    Size:
    1244 amino acids
    Molecular mass:
    138861 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC85140.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85140.1; Type=Frameshift; Positions=208, 1022; Evidence={ECO:0000305}; Sequence=BAC85140.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BC060780; Type=Frameshift; Positions=1044; Evidence={ECO:0000305};

    Alternative splice isoforms for ALPK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALPK1 Gene

Post-translational modifications for ALPK1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ALPK1 Gene

Domains & Families for ALPK1 Gene

Gene Families for ALPK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ALPK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96QP1

UniProtKB/Swiss-Prot:

ALPK1_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 ALPK1: view

Function for ALPK1 Gene

Molecular function for ALPK1 Gene

UniProtKB/Swiss-Prot Function:
Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation.

Enzyme Numbers (IUBMB) for ALPK1 Gene

Phenotypes From GWAS Catalog for ALPK1 Gene

Gene Ontology (GO) - Molecular Function for ALPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IBA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ALPK1: view
genes like me logo Genes that share phenotypes with ALPK1: view

Clone Products

  • Addgene plasmids for ALPK1

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALPK1 Gene

Localization for ALPK1 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 ALPK1 gene
Compartment Confidence
cytoskeleton 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with ALPK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ALPK1 Gene

Pathways & Interactions for ALPK1 Gene

SuperPathways for ALPK1 Gene

No Data Available

Interacting Proteins for ALPK1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000177648%0d%0a9606.ENSP00000314879%0d%0a
Selected Interacting proteins: Q96QP1-ALPK1_HUMAN ENSP00000177648 for ALPK1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for ALPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with ALPK1: view

No data available for Pathways by source and SIGNOR curated interactions for ALPK1 Gene

Drugs & Compounds for ALPK1 Gene

No Compound Related Data Available

Transcripts for ALPK1 Gene

Unigene Clusters for ALPK1 Gene

Alpha-kinase 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for ALPK1

Alternative Splicing Database (ASD) splice patterns (SP) for ALPK1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a ·
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - -
SP4:
SP5:
SP6: - -
SP7:
SP8: -

ExUns: 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ALPK1 Gene

GeneLoc Exon Structure for
ALPK1
ECgene alternative splicing isoforms for
ALPK1

Expression for ALPK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALPK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALPK1 Gene

This gene is overexpressed in Whole Blood (x10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ALPK1 Gene



Protein tissue co-expression partners for ALPK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALPK1 Gene:

ALPK1

SOURCE GeneReport for Unigene cluster for ALPK1 Gene:

Hs.652825

mRNA Expression by UniProt/SwissProt for ALPK1 Gene:

Q96QP1-ALPK1_HUMAN
Tissue specificity: Highly expressed in liver.

Evidence on tissue expression from TISSUES for ALPK1 Gene

  • Spleen(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ALPK1: view

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALPK1 Gene

Orthologs for ALPK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALPK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALPK1 33 34
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia ALPK1 33 34
  • 85.24 (n)
cow
(Bos Taurus)
Mammalia ALPK1 33 34
  • 83.44 (n)
mouse
(Mus musculus)
Mammalia Alpk1 33 16 34
  • 77.73 (n)
rat
(Rattus norvegicus)
Mammalia Alpk1 33
  • 77.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ALPK1 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALPK1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALPK1 33 34
  • 62.42 (n)
lizard
(Anolis carolinensis)
Reptilia ALPK1 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alpk1 33
  • 60.05 (n)
zebrafish
(Danio rerio)
Actinopterygii ALPK1 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea efk-1 34
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7709 34
  • 14 (a)
ManyToMany
-- 34
  • 11 (a)
ManyToMany
Species where no ortholog for ALPK1 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 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)
  • wheat (Triticum aestivum)

Evolution for ALPK1 Gene

ENSEMBL:
Gene Tree for ALPK1 (if available)
TreeFam:
Gene Tree for ALPK1 (if available)

Paralogs for ALPK1 Gene

Paralogs for ALPK1 Gene

genes like me logo Genes that share paralogs with ALPK1: view

Variants for ALPK1 Gene

Sequence variations from dbSNP and Humsavar for ALPK1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
VAR_041514 An ovarian mucinous carcinoma sample p.Lys339Glu
rs1000013793 -- 112,361,341(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000031853 -- 112,426,836(+) C/T intron_variant
rs1000033957 -- 112,308,419(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000065467 -- 112,318,428(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ALPK1 Gene

Variant ID Type Subtype PubMed ID
esv2152267 CNV deletion 18987734
esv2666363 CNV deletion 23128226
esv26687 CNV loss 19812545
esv2728152 CNV deletion 23290073
esv2728153 CNV deletion 23290073
esv3369923 CNV duplication 20981092
esv3569663 CNV loss 25503493
esv3601799 CNV loss 21293372
esv994179 CNV deletion 20482838
nsv1128089 CNV deletion 24896259
nsv291215 CNV deletion 16902084
nsv4470 CNV insertion 18451855

Variation tolerance for ALPK1 Gene

Residual Variation Intolerance Score: 95.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.14; 75.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALPK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALPK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALPK1 Gene

Disorders for ALPK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALPK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gout
  • articular gout
- elite association - COSMIC cancer census association via MalaCards
Search ALPK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ALPK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALPK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALPK1 Gene

Publications for ALPK1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. 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 58
  3. A genome-wide association meta-analysis identifies new childhood obesity loci. (PMID: 22484627) Bradfield JP … Early Growth Genetics Consortium (Nature genetics 2012) 3 44 58
  4. Genome-wide association study of epirubicin-induced leukopenia in Japanese patients. (PMID: 21799462) Srinivasan Y … Zembutsu H (Pharmacogenetics and genomics 2011) 3 44 58
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 44 58

Products for ALPK1 Gene

Sources for ALPK1 Gene

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