Homo sapiens Gene: ALK
Summary
InnateDB Gene IDBG-42084.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALK
Gene Name anaplastic lymphoma receptor tyrosine kinase
Synonyms CD246; NBLST3
Species Homo sapiens
Ensembl Gene ENSG00000171094
Encoded Proteins
anaplastic lymphoma receptor tyrosine kinase
anaplastic lymphoma receptor tyrosine kinase
anaplastic lymphoma receptor tyrosine kinase
anaplastic lymphoma receptor tyrosine kinase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:29192774-29921566
Strand Reverse strand
Band p23.1
Transcripts
ENST00000389048 ENSP00000373700
ENST00000431873 ENSP00000414027
ENST00000453137 ENSP00000387488
ENST00000498037
ENST00000618119 ENSP00000482733
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 58 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 58 [view]
Protein-Protein 58 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0004704 NF-kappaB-inducing kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
Biological Process
GO:0000187 activation of MAPK activity
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007399 nervous system development
GO:0008283 cell proliferation
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0038061 NIK/NF-kappaB signaling
GO:0042981 regulation of apoptotic process
GO:0046777 protein autophosphorylation
GO:0048666 neuron development
GO:0051092 positive regulation of NF-kappaB transcription factor activity
Cellular Component
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Non-small cell lung cancer pathway
INOH
IL-7 signaling pathway
JAK STAT pathway and regulation pathway
EPO signaling pathway pathway
VEGF signaling pathway pathway
PID NCI
Cross-References
SwissProt
TrEMBL H7BZ33
UniProt Splice Variant
Entrez Gene 238
UniGene Hs.654469
RefSeq NM_004304
HUGO HGNC:427
OMIM 105590
CCDS CCDS33172
HPRD 00104
IMGT
EMBL AC074096 AC093756 AC098874 AC106870 AC106899
GenPept
RNA Seq Atlas 238