Q99748 (NRTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neurturin

Gene names

Name:

NRTN

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	197 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells.
Subunit structure	Homodimer; disulfide-linked.
Subcellular location	Secreted.
Involvement in disease	Genetic variations in NRTN may contribute to Hirschsprung disease, in association with mutations of RET gene, and possibly mutations in other loci. Hirschsprung disease is a disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction. Ref.5
Sequence similarities	Belongs to the TGF-beta family. GDNF subfamily.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Hirschsprung disease
Domain	Signal
Molecular function	Growth factor
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	MAPK cascade Traceable author statement Ref.1. Source: ProtInc axon guidance Traceable author statement. Source: Reactome nerve development Inferred from electronic annotation. Source: Compara neural crest cell migration Inferred from direct assay PubMed 15242795. Source: MGI transmembrane receptor protein tyrosine kinase signaling pathway Traceable author statement PubMed 9286710. Source: ProtInc
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	receptor binding Traceable author statement PubMed 10829012. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Propeptide	20 – 95	76	By similarity		PRO_0000034010
	Chain	96 – 197	102	Neurturin		PRO_0000034011
Amino acid modifications
	Disulfide bond	103 ↔ 165		By similarity
	Disulfide bond	130 ↔ 194		By similarity
	Disulfide bond	134 ↔ 196		By similarity
	Disulfide bond	164		Interchain By similarity
Natural variations
	Natural variant	96	1	A → S May contribute to Hirschsprung disease in patients carrying a RET mutation. Ref.5		VAR_009498

Sequences

	Sequence		Length	Mass (Da)
	Q99748 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 91AFAC8C3F8971FD	FASTA	197	22,405
	10 20 30 40 50 60 MQRWKAAALA SVLCSSVLSI WMCREGLLLS HRLGPALVPL HRLPRTLDAR IARLAQYRAL 70 80 90 100 110 120 LQGAPDAMEL RELTPWAGRP PGPRRRAGPR RRRARARLGA RPCGLRELEV RVSELGLGYA 130 140 150 160 170 180 SDETVLFRYC AGACEAAARV YDLGLRRLRQ RRRLRRERVR AQPCCRPTAY EDEVSFLDAH 190 SRYHTVHELS ARECACV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Neurturin, a relative of glial-cell-line-derived neurotrophic factor." Kotzbauer P.T., Lampe P.A., Heuckeroth R.O., Golden J.P., Creedon D.J., Johnson E.M. Jr., Milbrandt J. Nature 384:467-470(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Melanoma.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease." Doray B., Salomon R., Amiel J., Pelet A., Touraine R., Billaud M., Attie T., Bachy B., Munnich A., Lyonnet S. Hum. Mol. Genet. 7:1449-1452(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-96, POSSIBLE INVOLVEMENT IN HIRSCHSPRUNG DISEASE. Tissue: Peripheral blood lymphocyte.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U78110 mRNA. Translation: AAC50898.1. AL161995 mRNA. Translation: CAB82327.1. CH471139 Genomic DNA. Translation: EAW69140.1. BC137399 mRNA. Translation: AAI37400.1. BC137400 mRNA. Translation: AAI37401.1.
IPI	IPI00017787.
PIR	T47159.
RefSeq	NP_004549.1. NM_004558.3.
UniGene	Hs.234775.
3D structure databases
ProteinModelPortal	Q99748.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000302648.
PTM databases
PhosphoSite	Q99748.
Polymorphism databases
DMDM	2501180.
Proteomic databases
PaxDb	Q99748.
PRIDE	Q99748.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303212; ENSP00000302648; ENSG00000171119.
GeneID	4902.
KEGG	hsa:4902.
UCSC	uc002mde.3. human.
Organism-specific databases
CTD	4902.
GeneCards	GC19P005774.
HGNC	HGNC:8007. NRTN.
MIM	602018. gene.
neXtProt	NX_Q99748.
Orphanet	388. Hirschsprung disease.
PharmGKB	PA31785.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42785.
HOGENOM	HOG000220877.
HOVERGEN	HBG003694.
InParanoid	Q99748.
OMA	HTVHELS.
OrthoDB	EOG4JHCH2.
PhylomeDB	Q99748.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
Bgee	Q99748.
CleanEx	HS_NRTN.
Genevestigator	Q99748.
GermOnline	ENSG00000171119. Homo sapiens.
Family and domain databases
InterPro	IPR001839. TGF-b_C. [Graphical view]
Pfam	PF00019. TGF_beta. 1 hit. [Graphical view]
SMART	SM00204. TGFB. 1 hit. [Graphical view]
PROSITE	PS00250. TGF_BETA_1. False negative. PS51362. TGF_BETA_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4902.
NextBio	18867.
SOURCE	Search...

Entry information

Entry name

NRTN_HUMAN

Accession

Primary (citable) accession number: Q99748
Secondary accession number(s): B2RPE8

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	May 1, 1997
Last modified:	May 1, 2013
This is version 119 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.