ID NRTN_HUMAN Reviewed; 197 AA. AC Q99748; B2RPE8; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 01-MAY-1997, sequence version 1. DT 13-NOV-2013, entry version 123. DE RecName: Full=Neurturin; DE Flags: Precursor; GN Name=NRTN; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RX PubMed=8945474; DOI=10.1038/384467a0; RA Kotzbauer P.T., Lampe P.A., Heuckeroth R.O., Golden J.P., RA Creedon D.J., Johnson E.M. Jr., Milbrandt J.; RT "Neurturin, a relative of glial-cell-line-derived neurotrophic RT factor."; RL Nature 384:467-470(1996). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Melanoma; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP VARIANT SER-96, AND POSSIBLE INVOLVEMENT IN HIRSCHSPRUNG DISEASE. RC TISSUE=Peripheral blood lymphocyte; RX PubMed=9700200; DOI=10.1093/hmg/7.9.1449; RA Doray B., Salomon R., Amiel J., Pelet A., Touraine R., Billaud M., RA Attie T., Bachy B., Munnich A., Lyonnet S.; RT "Mutation of the RET ligand, neurturin, supports multigenic RT inheritance in Hirschsprung disease."; RL Hum. Mol. Genet. 7:1449-1452(1998). CC -!- FUNCTION: Supports the survival of sympathetic neurons in culture. CC May regulate the development and maintenance of the CNS. Might CC control the size of non-neuronal cell population such as CC haemopoietic cells. CC -!- SUBUNIT: Homodimer; disulfide-linked. CC -!- SUBCELLULAR LOCATION: Secreted. CC -!- DISEASE: Note=Genetic variations in NRTN may contribute to CC Hirschsprung disease, in association with mutations of RET gene, CC and possibly mutations in other loci. Hirschsprung disease is a CC disorder of neural crest development is characterized by the CC absence of intramural ganglion cells in the hindgut, often CC resulting in intestinal obstruction. CC -!- SIMILARITY: Belongs to the TGF-beta family. GDNF subfamily. CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NRTN"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; U78110; AAC50898.1; -; mRNA. DR EMBL; AL161995; CAB82327.1; -; mRNA. DR EMBL; CH471139; EAW69140.1; -; Genomic_DNA. DR EMBL; BC137399; AAI37400.1; -; mRNA. DR EMBL; BC137400; AAI37401.1; -; mRNA. DR IPI; IPI00017787; -. DR PIR; T47159; T47159. DR RefSeq; NP_004549.1; NM_004558.3. DR UniGene; Hs.234775; -. DR ProteinModelPortal; Q99748; -. DR SMR; Q99748; 100-197. DR STRING; 9606.ENSP00000302648; -. DR PhosphoSite; Q99748; -. DR DMDM; 2501180; -. DR PaxDb; Q99748; -. DR PRIDE; Q99748; -. DR Ensembl; ENST00000303212; ENSP00000302648; ENSG00000171119. DR GeneID; 4902; -. DR KEGG; hsa:4902; -. DR UCSC; uc002mde.3; human. DR CTD; 4902; -. DR GeneCards; GC19P005774; -. DR HGNC; HGNC:8007; NRTN. DR MIM; 602018; gene. DR neXtProt; NX_Q99748; -. DR Orphanet; 388; Hirschsprung disease. DR PharmGKB; PA31785; -. DR eggNOG; NOG42785; -. DR HOGENOM; HOG000220877; -. DR HOVERGEN; HBG003694; -. DR InParanoid; Q99748; -. DR OMA; MCREGLL; -. DR OrthoDB; EOG75XGNJ; -. DR PhylomeDB; Q99748; -. DR Reactome; REACT_111045; Developmental Biology. DR GenomeRNAi; 4902; -. DR NextBio; 18867; -. DR PRO; PR:Q99748; -. DR Bgee; Q99748; -. DR CleanEx; HS_NRTN; -. DR Genevestigator; Q99748; -. DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell. DR GO; GO:0005102; F:receptor binding; TAS:ProtInc. DR GO; GO:0007411; P:axon guidance; TAS:Reactome. DR GO; GO:0000165; P:MAPK cascade; TAS:ProtInc. DR GO; GO:0021675; P:nerve development; IEA:Ensembl. DR GO; GO:0001755; P:neural crest cell migration; IDA:MGI. DR GO; GO:0007169; P:transmembrane receptor protein tyrosine kinase signaling pathway; TAS:ProtInc. DR InterPro; IPR001839; TGF-b_C. DR Pfam; PF00019; TGF_beta; 1. DR SMART; SM00204; TGFB; 1. DR PROSITE; PS00250; TGF_BETA_1; FALSE_NEG. DR PROSITE; PS51362; TGF_BETA_2; 1. PE 1: Evidence at protein level; KW Complete proteome; Disease mutation; Disulfide bond; Growth factor; KW Hirschsprung disease; Polymorphism; Reference proteome; Secreted; KW Signal. FT SIGNAL 1 19 Potential. FT PROPEP 20 95 By similarity. FT /FTId=PRO_0000034010. FT CHAIN 96 197 Neurturin. FT /FTId=PRO_0000034011. FT DISULFID 103 165 By similarity. FT DISULFID 130 194 By similarity. FT DISULFID 134 196 By similarity. FT DISULFID 164 164 Interchain (By similarity). FT VARIANT 96 96 A -> S (may contribute to Hirschsprung FT disease in patients carrying a RET FT mutation). FT /FTId=VAR_009498. SQ SEQUENCE 197 AA; 22405 MW; 91AFAC8C3F8971FD CRC64; MQRWKAAALA SVLCSSVLSI WMCREGLLLS HRLGPALVPL HRLPRTLDAR IARLAQYRAL LQGAPDAMEL RELTPWAGRP PGPRRRAGPR RRRARARLGA RPCGLRELEV RVSELGLGYA SDETVLFRYC AGACEAAARV YDLGLRRLRQ RRRLRRERVR AQPCCRPTAY EDEVSFLDAH SRYHTVHELS ARECACV //