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] See more...

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
  • Alpha-Protein Kinase 1 3 4
  • Chromosome 4 Kinase 3 4
  • LAK 3 4
  • 8430410J10Rik 3
  • EC 2.7.11.1 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 ALPK2.

UniProtKB/Swiss-Prot Summary for ALPK1 Gene

  • Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28877472, PubMed:28222186, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering proinflammatory NF-kappa-B signaling (PubMed:30111836). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161).

Gene Wiki entry for ALPK1 Gene

Additional gene information for ALPK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
GH04J112282 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 752.3 +0.8 844 7.6 ZNF24 ZBTB40 MLX POLR2A NR2F1 NR2F6 ZNF362 MYC ETV6 ELF1 TIFA ALPK1 lnc-ALPK1-2 piR-52079-162 FAM241A AP1AR RTEL1P1 LARP7 ZGRF1
GH04J112296 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.4 +12.8 12754 3.5 ZBTB40 POLR2A ZNF362 MYC CC2D1A NFYC ELF1 HLF RAD21 ELF3 ALPK1 ENSG00000272567 lnc-ALPK1-2 piR-52079-162 lnc-AP1AR-1
GH04J112635 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 +351.4 351415 3.4 E2F8 SIN3A SP1 ZBTB40 CTCF SREBF1 RBPJ POLR2A ATF1 CREB1 ZGRF1 LARP7 lnc-ANK2-8 MIR302CHG RTEL1P1 NEUROG2-AS1 NEUROG2 RPL7AP30 ENSG00000250966 FAM241A
GH04J112411 Enhancer 0.7 Ensembl ENCODE 13.3 +126.4 126361 3.3 BCL6B CREB1 ATF1 ATF7 EZH2 USF1 ATF2 ALPK1 ZGRF1 RF00017-4388 FR873489
GH04J112311 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 4 +27.3 27347 1.9 ZNF24 ETV6 HLF CEBPB MLLT1 ZNF687 POLR2A IKZF1 TRIM22 IKZF2 TIFA AP1AR ALPK1 LARP7 lnc-AP1AR-1 lnc-ALPK1-2 piR-52079-162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALPK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALPK1 gene promoter:
  • AP-1
  • AP-2rep
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HOXA3
  • Ik-3
  • IRF-7A
  • SRY
  • STAT3

Genomic Locations for ALPK1 Gene

Genomic Locations for ALPK1 Gene
chr4:112,285,509-112,442,621
(GRCh38/hg38)
Size:
157,113 bases
Orientation:
Plus strand
chr4:113,206,665-113,363,776
(GRCh37/hg19)
Size:
157,112 bases
Orientation:
Plus strand

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};

    Three dimensional structures from OCA and Proteopedia for ALPK1 Gene

    Alternative splice isoforms for ALPK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALPK1 Gene

Post-translational modifications for ALPK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for ALPK1 Gene

GenScript: Design optimal peptide antigens:
  • Lymphocyte alpha-protein kinase (ALPK1_HUMAN)
  • cDNA FLJ39927 fis, clone SPLEN2021194, highly similar to Homo sapiens alpha-kinase 1 (ALPK1), mRNA (B3KUH8_HUMAN)
  • cDNA FLJ61015, highly similar to Homo sapiens alpha-kinase 1 (ALPK1), mRNA (B4E0R2_HUMAN)

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:
Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28877472, PubMed:28222186, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering proinflammatory NF-kappa-B signaling (PubMed:30111836). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161).
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={ECO:0000269 PubMed:27169898, ECO:0000269 PubMed:30111836};.
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={ECO:0000269 PubMed:27169898, ECO:0000269 PubMed:30111836};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Serine/threonine-protein kinase activity is stimulated upon ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose)-binding.

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 IDA 30111836
GO:0005515 protein binding IPI 30111836
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

Animal Model Products

  • Taconic Biosciences Mouse Models for ALPK1

CRISPR Products

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 UniProtKB/Swiss-Prot for ALPK1 Gene

Cytoplasm, cytosol.

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
cytosol 5
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

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 IEA --
GO:0005829 cytosol IEA,IDA 30111836
genes like me logo Genes that share ontologies with ALPK1: view

Pathways & Interactions for ALPK1 Gene

PathCards logo

SuperPathways for ALPK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ALPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002753 cytoplasmic pattern recognition receptor signaling pathway IDA 28222186
GO:0006468 protein phosphorylation IEA --
GO:0016310 phosphorylation IEA --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IDA 28222186
GO:0045087 innate immune response IEA,IDA 28222186
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

CRISPR Products

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 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 32
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALPK1 33 32
  • 85.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALPK1 33 32
  • 83.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Alpk1 17 33 32
  • 77.73 (n)
rat
(Rattus norvegicus)
Mammalia Alpk1 32
  • 77.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ALPK1 33
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALPK1 33
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALPK1 33 32
  • 62.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALPK1 33
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alpk1 32
  • 60.05 (n)
zebrafish
(Danio rerio)
Actinopterygii ALPK1 33
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea efk-1 33
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7709 33
  • 14 (a)
ManyToMany
-- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ALPK1: view image

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
rs1052954321 likely-pathogenic, ROSAH syndrome 112,427,580(+) C/T coding_sequence_variant, missense_variant
VAR_041514 An ovarian mucinous carcinoma sample p.Lys339Glu
rs1000013793 -- 112,361,341(+) A/G intron_variant
rs1000031853 -- 112,426,836(+) C/T intron_variant
rs1000033957 -- 112,308,419(+) C/T 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

SNP Genotyping and Copy Number Assay Products

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. Alpha-kinase 1, a new component in apical protein transport. (PMID: 15883161) Heine M … Jacob R (The Journal of biological chemistry 2005) 3 4 23 56
  2. 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 56
  3. 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
  4. Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose. (PMID: 30111836) Zhou P … Shao F (Nature 2018) 3 4 56
  5. ALPK1- and TIFA-Dependent Innate Immune Response Triggered by the Helicobacter pylori Type IV Secretion System. (PMID: 28877472) Zimmermann S … Meyer TF (Cell reports 2017) 3 4 56

Products for ALPK1 Gene

Sources for ALPK1 Gene