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    ALPK1 alpha-kinase 1 [ Homo sapiens (human) ]

    Gene ID: 80216, updated on 26-Jun-2015
    Official Symbol
    ALPK1provided by HGNC
    Official Full Name
    alpha-kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:20917
    See related
    Ensembl:ENSG00000073331; HPRD:09554; MIM:607347; Vega:OTTHUMG00000132911
    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; 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]
    Orthologs
    See ALPK1 in Epigenomics, MapViewer
    Location:
    4q25
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (112297336..112442618)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (113218480..113363774)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377371 Neighboring gene adaptor-related protein complex 1 associated regulatory protein Neighboring gene TRAF-interacting protein with forkhead-associated domain Neighboring gene regulator of telomere elongation helicase 1 pseudogene 1 Neighboring gene TOX high mobility group box family member 4 pseudogene 1 Neighboring gene neurogenin 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis identifies new childhood obesity loci.
    NHGRI GWA Catalog
    Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22670, KIAA1527

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    activation of mitophagy in response to mitochondrial depolarization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of defense response to virus by host IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    alpha-protein kinase 1
    Names
    alpha-protein kinase 1
    chromosome 4 kinase
    lymphocyte alpha-kinase
    lymphocyte alpha-protein kinase

    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_001102406.1NP_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
      Q96QP1
      Related
      ENSP00000177648, OTTHUMP00000163832, ENST00000177648, OTTHUMT00000256421
      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family
    2. NM_001253884.1NP_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, ENST00000504176
      Conserved Domains (1) summary
      smart00811
      Location:9431151
      Alpha_kinase; Alpha-kinase family
    3. NM_025144.3NP_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
      Q96QP1
      Related
      ENSP00000398048, ENST00000458497
      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      112297336..112442618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532281.1XP_011530583.1  

      See identical proteins and their annotated locations for XP_011530583.1

      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family
    2. XM_011532283.1XP_011530585.1  

      See identical proteins and their annotated locations for XP_011530585.1

      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family
    3. XM_011532280.1XP_011530582.1  

      See identical proteins and their annotated locations for XP_011530582.1

      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family
    4. XM_005263247.3XP_005263304.1  

      See identical proteins and their annotated locations for XP_005263304.1

      Conserved Domains (1) summary
      smart00811
      Location:9431151
      Alpha_kinase; Alpha-kinase family
    5. XM_005263248.3XP_005263305.1  

      See identical proteins and their annotated locations for XP_005263305.1

      Conserved Domains (1) summary
      smart00811
      Location:9431151
      Alpha_kinase; Alpha-kinase family
    6. XM_005263245.3XP_005263302.1  

      See identical proteins and their annotated locations for XP_005263302.1

      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family
    7. XM_006714326.2XP_006714389.1  

      Conserved Domains (1) summary
      smart00811
      Location:10011209
      Alpha_kinase; Alpha-kinase family
    8. XM_005263246.3XP_005263303.1  

      See identical proteins and their annotated locations for XP_005263303.1

      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family
    9. XM_011532282.1XP_011530584.1  

      See identical proteins and their annotated locations for XP_011530584.1

      Conserved Domains (1) summary
      smart00811
      Location:10211229
      Alpha_kinase; Alpha-kinase family

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      113195311..113340525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)