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ALPK1 alpha kinase 1 [ Homo sapiens (human) ]

Gene ID: 80216, updated on 23-Mar-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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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
Compare labs

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 phosphorylation IEA
Inferred from Electronic Annotation
more info
  
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

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