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    AATK apoptosis associated tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 9625, updated on 2-Nov-2024

    Summary

    Official Symbol
    AATKprovided by HGNC
    Official Full Name
    apoptosis associated tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:21
    See related
    Ensembl:ENSG00000181409 MIM:605276; AllianceGenome:HGNC:21
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LMR1; AATYK; LMTK1; p35BP; AATYK1; PPP1R77
    Summary
    The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
    Expression
    Biased expression in brain (RPKM 12.1), duodenum (RPKM 7.0) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AATK in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81117295..81166221, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82025754..82074562, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79091095..79140021, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79004316-79004924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79004925-79005532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79008768-79009763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79010814-79011366 Neighboring gene BAIAP2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79013023-79013574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79017015-79017560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79019743-79020287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79025642-79026450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79026451-79027257 Neighboring gene BAR/IMD domain containing adaptor protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79029899-79030790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79030791-79031680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79031681-79032572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79037129-79037736 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79038344-79038950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79063531-79064032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79066868-79067758 Neighboring gene Sharpr-MPRA regulatory region 8367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79069541-79070430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79070431-79071320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79075501-79076018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79076019-79076535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79085595-79086096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79086097-79086596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79086611-79087352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79092251-79092794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79092795-79093338 Neighboring gene Sharpr-MPRA regulatory region 11647 Neighboring gene uncharacterized LOC124904079 Neighboring gene microRNA 3065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79116907-79117407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9117 Neighboring gene microRNA 657 Neighboring gene microRNA 338 Neighboring gene uncharacterized LOC124904080 Neighboring gene microRNA 1250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79138075-79138818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79138819-79139562 Neighboring gene parvalbumin like EF-hand containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79161487-79162058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79166719-79167436 Neighboring gene centrosomal protein 131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79195126-79195796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79195797-79196466 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79196467-79197136 Neighboring gene uncharacterized LOC105371925 Neighboring gene TEPSIN adaptor related protein complex 4 accessory protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Messenger RNAs for three proteins AATK, SLC27A1, and CDKAL1 are preferentially secreted out in exosomes from HIV-1 Nef-expressing cells, and their targeting miRNAs (miR-32 and miR-93*) are retained in these cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0641

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    serine/threonine-protein kinase LMTK1
    Names
    CDK5-binding protein
    brain apoptosis-associated tyrosine kinase
    lemur tyrosine kinase 1
    p35-binding protein
    protein phosphatase 1, regulatory subunit 77
    NP_001073864.2
    NP_004911.2

    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.

    Genomic

    1. NG_029981.1 RefSeqGene

      Range
      4852..53778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080395.3 → NP_001073864.2  serine/threonine-protein kinase LMTK1 isoform 1

      See identical proteins and their annotated locations for NP_001073864.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB014541, AC115099, AK131529, BI256809
      Consensus CDS
      CCDS45807.1
      UniProtKB/Swiss-Prot
      O75136, Q6ZMQ8, Q6ZN31, Q86X28
      Related
      ENSP00000324196.4, ENST00000326724.9
      Conserved Domains (2) summary
      smart00221
      Location:128 → 395
      STYKc; Protein kinase; unclassified specificity
      cd05087
      Location:127 → 397
      PTKc_Aatyk1; Catalytic domain of the Protein Tyrosine Kinases, Apoptosis-associated tyrosine kinase 1
    2. NM_004920.3 → NP_004911.2  serine/threonine-protein kinase LMTK1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AB014541, AC115099, AK131395, BI256809
      Consensus CDS
      CCDS58607.1
      UniProtKB/TrEMBL
      H7C175
      Related
      ENSP00000398796.1, ENST00000417379.6
      Conserved Domains (2) summary
      smart00221
      Location:25 → 292
      STYKc; Protein kinase; unclassified specificity
      cd05087
      Location:24 → 294
      PTKc_Aatyk1; Catalytic domain of the Protein Tyrosine Kinases, Apoptosis-associated tyrosine kinase 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      81117295..81166221 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82025754..82074562 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)