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    ALPK1 alpha kinase 1 [ Homo sapiens (human) ]

    Gene ID: 80216, updated on 6-Jul-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001102406.2NP_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:10211229
      Alpha_kinase; Alpha-kinase family
    2. NM_001253884.2NP_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:9431151
      Alpha_kinase; Alpha-kinase family
    3. NM_025144.4NP_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:10211229
      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)