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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 Disease related genes Human disease related genes
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
5
Cytoband
p13.2
Chromosome location (bp)
37812677 - 37840041
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake 1. Acts by binding to its coreceptor, GFRA1, leading to autophosphorylation and activation of the RET receptor 2,3,4. Involved in the development of the neural crest 5....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Growth factor
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Congenital malformations Congenital malformations of the digestive system Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001656[metanephros development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001755[neural crest cell migration] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005794[Golgi apparatus] GO:0007165[signal transduction] GO:0007399[nervous system development] GO:0007422[peripheral nervous system development] GO:0008083[growth factor activity] GO:0008284[positive regulation of cell population proliferation] GO:0008344[adult locomotory behavior] GO:0010468[regulation of gene expression] GO:0021516[dorsal spinal cord development] GO:0021784[postganglionic parasympathetic fiber development] GO:0030116[glial cell-derived neurotrophic factor receptor binding] GO:0030432[peristalsis] GO:0030971[receptor tyrosine kinase binding] GO:0031175[neuron projection development] GO:0032770[positive regulation of monooxygenase activity] GO:0033603[positive regulation of dopamine secretion] GO:0042803[protein homodimerization activity] GO:0043066[negative regulation of apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0045597[positive regulation of cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048255[mRNA stabilization] GO:0048484[enteric nervous system development] GO:0048485[sympathetic nervous system development] GO:0048568[embryonic organ development] GO:0048731[system development] GO:0051584[regulation of dopamine uptake involved in synaptic transmission] GO:0060688[regulation of morphogenesis of a branching structure] GO:0061642[chemoattraction of axon] GO:0071679[commissural neuron axon guidance] GO:0072107[positive regulation of ureteric bud formation] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:1902379[chemoattractant activity involved in axon guidance] GO:2000736[regulation of stem cell differentiation] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand] GO:2001260[regulation of semaphorin-plexin signaling pathway]
The Human Protein Atlas project is funded
