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Q99748 (NRTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neurturin
Gene names
Name:NRTN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length197 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Propeptide20 – 9576 By similarity
PRO_0000034010
Chain96 – 197102Neurturin
PRO_0000034011

Amino acid modifications

Disulfide bond103 ↔ 165 By similarity
Disulfide bond130 ↔ 194 By similarity
Disulfide bond134 ↔ 196 By similarity
Disulfide bond164Interchain By similarity

Natural variations

Natural variant961A → S May contribute to Hirschsprung disease in patients carrying a RET mutation. Ref.5
VAR_009498

Sequences

Sequence LengthMass (Da)Tools
Q99748 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 91AFAC8C3F8971FD

FASTA19722,405
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.

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.
CCDSCCDS12151.1.
PIRT47159.
RefSeqNP_004549.1. NM_004558.3.
UniGeneHs.234775.

3D structure databases

ProteinModelPortalQ99748.
SMRQ99748. Positions 100-197.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110958. 4 interactions.
STRING9606.ENSP00000302648.

PTM databases

PhosphoSiteQ99748.

Polymorphism databases

DMDM2501180.

Proteomic databases

PaxDbQ99748.
PRIDEQ99748.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303212; ENSP00000302648; ENSG00000171119.
GeneID4902.
KEGGhsa:4902.
UCSCuc002mde.3. human.

Organism-specific databases

CTD4902.
GeneCardsGC19P005774.
GeneReviewsNRTN.
HGNCHGNC:8007. NRTN.
MIM602018. gene.
neXtProtNX_Q99748.
Orphanet388. Hirschsprung disease.
PharmGKBPA31785.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42785.
HOGENOMHOG000220877.
HOVERGENHBG003694.
InParanoidQ99748.
OMAMCREGLL.
OrthoDBEOG75XGNJ.
PhylomeDBQ99748.
TreeFamTF332366.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

BgeeQ99748.
CleanExHS_NRTN.
GenevestigatorQ99748.

Family and domain databases

Gene3D2.10.90.10. 1 hit.
InterProIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
[Graphical view]
PfamPF00019. TGF_beta. 1 hit.
[Graphical view]
SMARTSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMSSF57501. SSF57501. 1 hit.
PROSITEPS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi4902.
NextBio18867.
PROQ99748.
SOURCESearch...

Entry information

Entry nameNRTN_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM