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

Gene ID: 238, updated on 29-Jul-2014
Official Symbol
ALKprovided by HGNC
Official Full Name
anaplastic lymphoma receptor tyrosine kinaseprovided by HGNC
Primary source
HGNC:427
See related
Ensembl:ENSG00000171094; HPRD:00104; MIM:105590; Vega:OTTHUMG00000152034
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]
Location:
2p23
Exon count:
29
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (29192774..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 chromosome 2 open reading frame 71 Neighboring gene CAP-GLY domain containing linker protein family, member 4 Neighboring gene uncharacterized LOC101929386 Neighboring gene uncharacterized LOC101929418 Neighboring gene uncharacterized LOC101930384 Neighboring gene yippee-like 5 (Drosophila)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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 
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 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 TAS
Traceable Author Statement
more info
PubMed 
activation of MAPK activity TAS
Traceable Author Statement
more info
PubMed 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
neuron development TAS
Traceable Author Statement
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation TAS
Traceable Author Statement
more info
PubMed 
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 
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 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular vesicular exosome IDA
Inferred from Direct Assay
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 
protein complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
ALK tyrosine kinase receptor
Names
ALK tyrosine kinase receptor
CD246 antigen
mutant anaplastic lymphoma kinase
NP_004295.2

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 

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

mRNA and Protein(s)

  1. NM_004304.4NP_004295.2  ALK tyrosine kinase receptor precursor

    See proteins identical to NP_004295.2

    Status: REVIEWED

    Source sequence(s)
    DA455128, EU788004, U62540
    Consensus CDS
    CCDS33172.1
    UniProtKB/TrEMBL
    B6D4Y2
    UniProtKB/Swiss-Prot
    Q9UM73
    Related
    ENSP00000373700, OTTHUMP00000201048, ENST00000389048, OTTHUMT00000324994
    Conserved Domains (6) summary
    cd06263
    Location:480631
    Blast Score: 260
    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 ...
    cd05036
    Location:11091385
    Blast Score: 1543
    PTKc_ALK_LTK; Catalytic domain of the Protein Tyrosine Kinases, Anaplastic Lymphoma Kinase and Leukocyte Tyrosine Kinase
    smart00192
    Location:441467
    Blast Score: 84
    LDLa; Low-density lipoprotein receptor domain class A
    pfam00629
    Location:480634
    Blast Score: 271
    MAM; MAM domain
    pfam07714
    Location:11161383
    Blast Score: 1037
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14670
    Location:9871021
    Blast Score: 90
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    29192774..29921611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    29156646..29883927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    29345879..30074503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)