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    ALK ALK receptor tyrosine kinase [ Homo sapiens (human) ]

    Gene ID: 238, updated on 21-May-2019

    Summary

    Official Symbol
    ALKprovided by HGNC
    Official Full Name
    ALK receptor tyrosine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:427
    See related
    Ensembl:ENSG00000171094 MIM:105590
    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
    CD246; NBLST3
    Summary
    This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See ALK in Genome Data Viewer
    Location:
    2p23.2-p23.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (29190992..29921611, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (29415640..30144477, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374386 Neighboring gene CLIP4 5' region CAGE-defined mid-level expression enhancer Neighboring gene CAP-Gly domain containing linker protein family member 4 Neighboring gene uncharacterized LOC101929386 Neighboring gene uncharacterized LOC105374389 Neighboring gene RNA, 7SL, cytoplasmic 516, pseudogene Neighboring gene uncharacterized LOC101929418 Neighboring gene uncharacterized LOC105374414 Neighboring gene small nucleolar RNA, H/ACA box 10B Neighboring gene yippee like 5

    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 FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef and ALK show similar effects by increasing different cytokines/chemokines, such as IL-1beta, TNF-alpha, and RANTES, that may be relevant for HAD pathogenesis PubMed
    nef Overexpression of HIV-1 Nef and ALK effect gelatinase activation in astrocytic glioma cells PubMed
    nef HIV-1 Nef and ALK are capable of cumulatively influencing the MAP-K phosphorylation in astrocytic glioma cells PubMed
    nef HIV-1 Nef and anaplastic lymphoma kinase (ALK) do not physically interact but ALK expression is upregulated by Nef in astrocytic glioma cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
      Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
    • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
      Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Non-small cell lung cancer, conserved biosystem (from KEGG)
      Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    NF-kappaB-inducing kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    NIK/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    activation of MAPK activity TAS
    Traceable Author Statement
    more info
    PubMed 
    adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development TAS
    Traceable Author Statement
    more info
    PubMed 
    peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of dopamine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    response to environmental enrichment IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    swimming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ALK tyrosine kinase receptor
    Names
    CD246 antigen
    anaplastic lymphoma receptor tyrosine kinase
    mutant anaplastic lymphoma kinase
    NP_001340694.1
    NP_004295.2
    XP_024308546.1
    XP_024308547.1

    NCBI Reference Sequences (RefSeq)

    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_009445.1 RefSeqGene

      Range
      4956..733793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_488

    mRNA and Protein(s)

    1. NM_001353765.1NP_001340694.1  ALK tyrosine kinase receptor isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. The promoter and 5' terminal exon sequence is from an endogenous retroviral LTR (PMID: 26444240). The resulting isoform (2, also known as ALKATI) is shorter and has a distinct N-terminus, compared to isoform 1. The encoded protein is expressed in melanoma cells.
      Source sequence(s)
      LN864494
      Consensus CDS
      CCDS86828.1
      Related
      ENSP00000493203.1, ENST00000642122.1
      Conserved Domains (1) summary
      cd05036
      Location:41317
      PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase
    2. NM_004304.5NP_004295.2  ALK tyrosine kinase receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_004295.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      DA455128, EU788004, U62540
      Consensus CDS
      CCDS33172.1
      UniProtKB/Swiss-Prot
      Q9UM73
      UniProtKB/TrEMBL
      B6D4Y2
      Related
      ENSP00000373700.3, ENST00000389048.8
      Conserved Domains (6) summary
      cd06263
      Location:480631
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00192
      Location:441467
      LDLa; Low-density lipoprotein receptor domain class A
      cd05036
      Location:11091385
      PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase
      pfam00629
      Location:480636
      MAM; MAM domain, meprin/A5/mu
      pfam07714
      Location:11161383
      Pkinase_Tyr; Protein tyrosine kinase
      pfam14670
      Location:9871021
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      29190992..29921611 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452778.1XP_024308546.1  ALK tyrosine kinase receptor isoform X1

      Conserved Domains (2) summary
      cd05036
      Location:160436
      PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase
      pfam14670
      Location:3872
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. XM_024452779.1XP_024308547.1  ALK tyrosine kinase receptor isoform X2

      Conserved Domains (1) summary
      cd05036
      Location:41317
      PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase

    RNA

    1. XR_001738688.2 RNA Sequence

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