ALK Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
ALK
Official Name
ALK receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:427]
Ensembl ID
ENSG00000171094
Bio databases IDs NCBI: 238 Ensembl: ENSG00000171094
Aliases ALK receptor tyrosine kinase
Synonyms ALK1, ALK receptor, ALK receptor tyrosine kinase, anaplastic lymphoma kinase, B120IND1, CD246, LOC108351182, NBLST3, Tcrz
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ALK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • Protein kinase (unclassified specificity)
  • catalytic domain
  • ATP-binding domain
  • Protein tyrosine and serine/threonine kinase
  • protein binding
  • protein-tyrosine kinase
  • Protein kinase domain
  • identical protein binding
  • kinase
  • Serine/Threonine protein kinases, catalytic domain
  • Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
  • Protein Kinases, catalytic domain
  • transmembrane receptor protein tyrosine kinase
  • cytoplasmic domain
  • LDLa
  • tyrosine kinase domain
  • intracellular domain
  • receptor signaling protein tyrosine kinase activator
  • heparin binding
  • Tyrosine kinase, catalytic domain
  • MAM domain, meprin/A5/mu
  • Coagulation Factor Xa inhibitory site

Pathways

Biological processes and signaling networks where the ALK gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • de novo acute myeloid leukemia
  • precursor B-cell acute lymphoblastic leukemia
  • neoplasia
  • advanced lung squamous cell carcinoma
  • advanced colon cancer
  • advanced large cell lung carcinoma
  • acute myeloid leukemia
  • ALK rearrangement positive non-small cell lung cancer
  • non-small cell lung cancer
  • stage II non-small cell lung cancer
regulated by
  • heavy metal
  • beta-estradiol
  • tretinoin
  • DNMT1
  • MMP-9 inhibitor I
  • methylnitrosourea
  • crizotinib
  • MYC/MYCN:ALK gene
  • EML4-ALK
  • iruplinalkib
regulates
role in cell
  • phosphorylation in
  • activation in
  • expression in
  • migration
  • quantity
  • differentiation
  • proliferation
  • cell viability
  • response
  • apoptosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • cell surface
  • cellular membrane
  • Nucleus
  • Golgi Apparatus
  • nucleoli
  • perikaryon
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ALK gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • multicellular organismal development
  • signal transduction
  • protein autophosphorylation
  • peptidyl-tyrosine autophosphorylation
  • transmembrane receptor protein tyrosine kinase signaling pathway
  • regulation of apoptotic process
  • hippocampus development
  • regulation of neuron differentiation
  • neuron development
  • positive regulation of NF-kappaB transcription factor activity
  • regulation of dopamine receptor signaling pathway
  • positive regulation of dendrite development
  • regulation of cell proliferation
  • energy homeostasis
  • positive regulation of kinase activity
  • phosphorylation
  • adult behavior
  • negative regulation of lipid catabolic process

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • receptor complex
  • macromolecular complex
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • protein tyrosine kinase activity
  • identical protein binding
  • protein binding
  • transmembrane receptor protein tyrosine kinase activity
  • heparin binding
  • receptor signaling protein tyrosine kinase activator activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.