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

    Gene ID: 238, updated on 3-Oct-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALK in Genome Data Viewer
    Location:
    2p23.2-p23.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (29190992..29921589, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (29415640..30144452, 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neuroblastoma 3 Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2019-12-20)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2019-12-20)

    ClinGen Genome Curation Page

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in NIK/NF-kappaB signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of lipid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of NF-kappaB transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of dendrite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of dopamine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to environmental enrichment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in swimming behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane receptor protein tyrosine kinase signaling pathway 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)

    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_009445.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001353765.2NP_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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      29190992..29921589 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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