Anaplastic lymphoma kinase

Also known as CD246, NBLST3, anaplastic lymphoma receptor tyrosine kinase, ALK receptor tyrosine kinase, ALK (gene), ALK1

protein-coding gene in the species Homo sapiens

Gene data

ALK

Name: ALK receptor tyrosine kinase
Type: protein-coding
Position: 29,190,995–29,921,586 (−)
Aliases: ALK1, CD246, NBLST3
Ensembl: ENSG00000171094
RefSeq RNA: NM_001353765.2, NM_004304.5, XM_054341245.1, XR_001738688.3, XR_008486309.1
RefSeq protein: NP_001340694.1, NP_004295.2, XP_054197220.1

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 Ontology

Biological process

signal transduction cell surface receptor protein tyrosine kinase signaling pathway cell surface receptor protein tyrosine kinase signaling pathway cell surface receptor protein tyrosine kinase signaling pathway nervous system development phosphorylation peptidyl-tyrosine autophosphorylation regulation of cell population proliferation

Molecular function

protein kinase activity protein tyrosine kinase activity protein tyrosine kinase activity protein tyrosine kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity

Cellular component

plasma membrane plasma membrane plasma membrane plasma membrane plasma membrane membrane protein-containing complex signaling receptor complex

Pathways

Pathways in cancer - Homo sapiens (human)Non-small cell lung cancer - Homo sapiens (human)PD-L1 expression and PD-1 checkpoint pathway in cancer - Homo sapiens (human)Signal Transduction Signal Transduction Disease Signaling by ALK Signaling by ALK Diseases of signal transduction by growth factor receptors and second messengers Signaling by Receptor Tyrosine Kinases

via MyGene.info

Gene · Ensembl

ALK receptor tyrosine kinase

Symbol: ALK
Biotype: Protein coding
Organism: Homo sapiens
Location: 2:29,190,995-29,921,586
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: 2xp2.png

Show 9 more facts

HomoloGene ID: 68387
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/238
genomic end: 29921586
genomic start: 29415640
chromosome: human chromosome 2
cytogenetic location: 2p23.2-p23.1
genetic association: non-small-cell lung carcinoma
expressed in: middle temporal gyrus

Sources (6)

via Wikidata · CC0

Article · Italiano

La chinasi del linfoma anaplastico (ALK dall'inglese Anaplastic lymphoma kinase), conosciuta anche come recettore tirosin-chinasico ALK (ALK tyrosine kinase receptor) o CD246, è un recettore tirosin chinasico transmembrana umano codificato dal gene ALK.Questo gene, posizionato sul cromosoma 2, gioca un ruolo importante nello sviluppo cerebrale e in generale nello sviluppo neuronale del sistema nervoso centrale. Riarrangiamenti, mutazioni o amplificazioni del gene ALK sono spesso associati con l'insorgenza di tutta una serie di tumori quali il neuroblastoma, il linfoma a grandi cellule anaplastico e il tumore del polmone non a cellule piccole (NSCLC). In particolare la formazione di geni di fusione può portare alla deregolazione dell’Anaplastic lymphoma kinase innescando un processo di tumorigenesi, difatti il gene di fusione ALK /EML4 risulta essere responsabile di circa il 3-5% dei NSCLC. Negli ultimi anni l'ALK è stata utilizzata come bersaglio molecolare in terapie antitumorali anche grazie allo sviluppo di specifici farmaci inibitori di ALK come Crizotinib, Ceritinib o altri inibitori tirosin chinasici.

Abstract from DBpedia / Wikipedia · CC BY-SA

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