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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes CD markers Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
Chromosome location (bp)
29192774 - 29921586
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system 1,2,3,4,5,6,7. Also acts as a key thinness protein involved in the resistance to weight gain: in hypothalamic neurons, controls energy expenditure acting as a negative regulator of white adipose tissue lipolysis and sympathetic tone to fine-tune energy homeostasis (By similarity). Following activation by ALKAL2 ligand at the cell surface, transduces an extracellular signal into an intracellular response 8,9,10,11. In contrast, ALKAL1 is not a potent physiological ligand for ALK 12. Ligand-binding to the extracellular domain induces tyrosine kinase activation, leading to activation of the mitogen-activated protein kinase (MAPK) pathway 13. Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif 14,15. Induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1 16,17. ALK activation may also be regulated by pleiotrophin (PTN) and midkine (MDK) 18,19,20,21. PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation of cell proliferation 22,23,24. MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1), activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction 25. Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase 26,27. Recruitment of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival signaling of MDK 28,29....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases CD markers Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of the lung and pleura Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000166[nucleotide binding] 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:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0007165[signal transduction] GO:0007169[transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007399[nervous system development] GO:0007420[brain development] GO:0008201[heparin binding] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0021766[hippocampus development] GO:0030298[receptor signaling protein tyrosine kinase activator activity] GO:0030534[adult behavior] GO:0032991[protein-containing complex] GO:0033674[positive regulation of kinase activity] GO:0036269[swimming behavior] GO:0038061[NIK/NF-kappaB signaling] GO:0038083[peptidyl-tyrosine autophosphorylation] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043235[receptor complex] GO:0043410[positive regulation of MAPK cascade] GO:0045664[regulation of neuron differentiation] GO:0046777[protein autophosphorylation] GO:0048666[neuron development] GO:0050995[negative regulation of lipid catabolic process] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0060159[regulation of dopamine receptor signaling pathway] GO:0070062[extracellular exosome] GO:0090648[response to environmental enrichment] GO:0097009[energy homeostasis] GO:1900006[positive regulation of dendrite development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the lung and pleura Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Translocations Human disease related genes Cancers Cancers of the lung and pleura Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
