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    ALPK1 alpha kinase 1 [ Homo sapiens (human) ]

    Gene ID: 80216, updated on 2-May-2024

    Summary

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    Official Symbol
    ALPK1provided by HGNC
    Official Full Name
    alpha kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:20917
    See related
    Ensembl:ENSG00000073331 MIM:607347; AllianceGenome:HGNC:20917
    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
    LAK; ROSAH; 8430410J10Rik
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 3.8), skin (RPKM 2.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALPK1 in Genome Data Viewer
    Location:
    4q25
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (112297369..112442621)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (115605712..115750965)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (113218525..113363777)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:113152716-113153663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15636 Neighboring gene AP1AR divergent transcript Neighboring gene adaptor related protein complex 1 associated regulatory protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21826 Neighboring gene Sharpr-MPRA regulatory region 9995 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:113230035-113230536 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:113230537-113231036 Neighboring gene TRAF interacting protein with forkhead associated domain Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21827 Neighboring gene Sharpr-MPRA regulatory region 420 Neighboring gene regulator of telomere elongation helicase 1 pseudogene 1 Neighboring gene TOX high mobility group box family member 4 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:113430154-113430818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15639 Neighboring gene NEUROG2 and ZGRF1 antisense RNA 1 Neighboring gene neurogenin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1. Zhong L, et al. J Clin Immunol, 2020 Feb. PMID 31939038
    2. ALPK1 Expression Is Associated with Lymph Node Metastasis and Tumor Growth in Oral Squamous Cell Carcinoma Patients. Chen PK, et al. Am J Pathol, 2019 Jan. PMID 30315765
    3. Down-regulated and Commonly mutated ALPK1 in Lung and Colorectal Cancers. Liao HF, et al. Sci Rep, 2016 Jun 10. PMID 27283888, Free PMC Article
    4. Common variant of ALPK1 is not associated with gout: a replication study. Chiba T, et al. Hum Cell, 2015 Jan. PMID 25326865, Free PMC Article
    5. ALPK1 genetic regulation and risk in relation to gout. Ko AM, et al. Int J Epidemiol, 2013 Apr. PMID 23569188, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The relationship of ALPK1, hyaluronic acid and M1 macrophage polarization in the temporomandibular joint synovitis.
      Title: The relationship of ALPK1, hyaluronic acid and M1 macrophage polarization in the temporomandibular joint synovitis.
    2. The Role of ALPK1 in Inhibiting Hepatitis B Virus Replication Facilitates the Identification of ALPK1 P660L Variant for Predicting Response to Pegylated Interferon alpha Therapy.
      Title: The Role of ALPK1 in Inhibiting Hepatitis B Virus Replication Facilitates the Identification of ALPK1 P660L Variant for Predicting Response to Pegylated Interferon α Therapy.
    3. Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
      Title: Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
    4. The ALPK1/TIFA/NF-kappaB axis links a bacterial carcinogen to R-loop-induced replication stress.
      Title: The ALPK1/TIFA/NF-κB axis links a bacterial carcinogen to R-loop-induced replication stress.
    5. ALPK1 regulates streptozotocin-induced nephropathy through CCL2 and CCL5 expressions.
      Title: ALPK1 regulates streptozotocin-induced nephropathy through CCL2 and CCL5 expressions.
    6. Heterozygosity for ALPK1, p.Thr237Met leads to ROSAH syndrome, an autosomal dominant ocular systemic disorder.
      Title: ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
    7. ALPK1 serves as a potential biomarker and target for OSCC development in late stages.
      Title: ALPK1 Expression Is Associated with Lymph Node Metastasis and Tumor Growth in Oral Squamous Cell Carcinoma Patients.
    8. REVIEW: various mechanisms and pathways involved in H. pylori induction of NF-kappaB-dependent responses in gastric epithelial cells, including a 'state-of-the-art' review on the respective roles of NOD1 and ALPK1/TIFA pathways in these responses
      Title: Role of NOD1 and ALPK1/TIFA Signalling in Innate Immunity Against Helicobacter pylori Infection.
    9. Study reveals alterations of the CYLD gene in 15/15 cylindromas and 5/17 spiradenomas, yet only 2/24 spiradenocarcinomas. Also, a recurrent missense mutation found in the kinase domain of the ALPK1 gene in spiradenomas and spiradenocarcinomas, which is mutually exclusive from mutation of CYLD and can activate the NF-kappaB pathway in reporter assays.
      Title: ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
    10. Combined exposure to the four high-risk genotypes of ALPK1 and the uric-acid-related loci of ABCG2, SLC2A9, and SLC22A12 was associated with an increased gout risk and a high PPV for gout.
      Title: Variants of ALPK1 with ABCG2, SLC2A9, and SLC22A12 increased the positive predictive value for gout.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    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
    Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
    MedGen: C4749914 OMIM: 614979 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis identifies new childhood obesity loci.
    EBI GWAS Catalog
    Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22670, KIAA1527

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monosaccharide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monosaccharide binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cytoplasmic pattern recognition receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoplasmic pattern recognition receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoplasmic pattern recognition receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    alpha-protein kinase 1
    Names
    chromosome 4 kinase
    lymphocyte alpha-kinase
    lymphocyte alpha-protein kinase
    NP_001095876.1
    NP_001240813.1
    NP_079420.3

    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.

    mRNA and Protein(s)

    1. NM_001102406.2 → NP_001095876.1  alpha-protein kinase 1 isoform 1

      See identical proteins and their annotated locations for NP_001095876.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC004049, AK026715, AY044164, BC060780, BE155590, DB250317
      Consensus CDS
      CCDS3697.1
      UniProtKB/Swiss-Prot
      B4E3G1, F5H138, Q68CI9, Q6P9F9, Q6ZNK4, Q96QP1, Q9P201
      Related
      ENSP00000177648.9, ENST00000177648.13
      Conserved Domains (1) summary
      smart00811
      Location:1021 → 1229
      Alpha_kinase; Alpha-kinase family

    2. NM_001253884.2 → NP_001240813.1  alpha-protein kinase 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC004049, AK026715, AK304708
      Consensus CDS
      CCDS58923.1
      UniProtKB/Swiss-Prot
      Q96QP1
      Related
      ENSP00000426044.2, ENST00000504176.6
      Conserved Domains (1) summary
      smart00811
      Location:943 → 1151
      Alpha_kinase; Alpha-kinase family

    3. NM_025144.4 → NP_079420.3  alpha-protein kinase 1 isoform 1

      See identical proteins and their annotated locations for NP_079420.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC004049, AK026715, AY044164, BC060780, BE155590, DB250317
      Consensus CDS
      CCDS3697.1
      UniProtKB/Swiss-Prot
      B4E3G1, F5H138, Q68CI9, Q6P9F9, Q6ZNK4, Q96QP1, Q9P201
      Related
      ENSP00000498374.1, ENST00000650871.1
      Conserved Domains (1) summary
      smart00811
      Location:1021 → 1229
      Alpha_kinase; Alpha-kinase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      112297369..112442621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      115605712..115750965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QP1.3 GenPept UniProtKB/Swiss-Prot:Q96QP1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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