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Protein

Neurturin

Gene

NRTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. receptor binding Source: ProtInc

GO - Biological processi

  1. axon guidance Source: Reactome
  2. MAPK cascade Source: ProtInc
  3. nerve development Source: Ensembl
  4. nervous system development Source: ProtInc
  5. neural crest cell migration Source: MGI
  6. neuron projection development Source: MGI
  7. transmembrane receptor protein tyrosine kinase signaling pathway Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Growth factor

Enzyme and pathway databases

ReactomeiREACT_18312. NCAM1 interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Neurturin
Gene namesi
Name:NRTN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:8007. NRTN.

Subcellular locationi

GO - Cellular componenti

  1. axon Source: Ensembl
  2. extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Disease mutation, Hirschsprung disease

Organism-specific databases

Orphaneti388. Hirschsprung disease.
PharmGKBiPA31785.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence AnalysisAdd
BLAST
Propeptidei20 – 9576By similarityPRO_0000034010Add
BLAST
Chaini96 – 197102NeurturinPRO_0000034011Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi103 ↔ 165By similarity
Disulfide bondi130 ↔ 194By similarity
Disulfide bondi134 ↔ 196By similarity
Disulfide bondi164 – 164InterchainBy similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ99748.
PRIDEiQ99748.

PTM databases

PhosphoSiteiQ99748.

Expressioni

Gene expression databases

BgeeiQ99748.
CleanExiHS_NRTN.
GenevestigatoriQ99748.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.

Protein-protein interaction databases

BioGridi110958. 3 interactions.
STRINGi9606.ENSP00000302648.

Structurei

3D structure databases

ProteinModelPortaliQ99748.
SMRiQ99748. Positions 100-197.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family. GDNF subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG42785.
GeneTreeiENSGT00520000055559.
HOGENOMiHOG000220877.
HOVERGENiHBG003694.
InParanoidiQ99748.
OMAiDAHSRYH.
OrthoDBiEOG75XGNJ.
PhylomeDBiQ99748.
TreeFamiTF332366.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
[Graphical view]
PfamiPF00019. TGF_beta. 1 hit.
[Graphical view]
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS51362. TGF_BETA_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q99748-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQRWKAAALA SVLCSSVLSI WMCREGLLLS HRLGPALVPL HRLPRTLDAR
60 70 80 90 100
IARLAQYRAL LQGAPDAMEL RELTPWAGRP PGPRRRAGPR RRRARARLGA
110 120 130 140 150
RPCGLRELEV RVSELGLGYA SDETVLFRYC AGACEAAARV YDLGLRRLRQ
160 170 180 190
RRRLRRERVR AQPCCRPTAY EDEVSFLDAH SRYHTVHELS ARECACV
Length:197
Mass (Da):22,405
Last modified:May 1, 1997 - v1
Checksum:i91AFAC8C3F8971FD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961A → S May contribute to Hirschsprung disease in patients carrying a RET mutation. 1 Publication
VAR_009498

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12151.1.
PIRiT47159.
RefSeqiNP_004549.1. NM_004558.3.
UniGeneiHs.234775.

Genome annotation databases

EnsembliENST00000303212; ENSP00000302648; ENSG00000171119.
GeneIDi4902.
KEGGihsa:4902.
UCSCiuc002mde.3. human.

Polymorphism databases

DMDMi2501180.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12151.1.
PIRiT47159.
RefSeqiNP_004549.1. NM_004558.3.
UniGeneiHs.234775.

3D structure databases

ProteinModelPortaliQ99748.
SMRiQ99748. Positions 100-197.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110958. 3 interactions.
STRINGi9606.ENSP00000302648.

PTM databases

PhosphoSiteiQ99748.

Polymorphism databases

DMDMi2501180.

Proteomic databases

PaxDbiQ99748.
PRIDEiQ99748.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303212; ENSP00000302648; ENSG00000171119.
GeneIDi4902.
KEGGihsa:4902.
UCSCiuc002mde.3. human.

Organism-specific databases

CTDi4902.
GeneCardsiGC19P005774.
GeneReviewsiNRTN.
HGNCiHGNC:8007. NRTN.
MIMi602018. gene.
neXtProtiNX_Q99748.
Orphaneti388. Hirschsprung disease.
PharmGKBiPA31785.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG42785.
GeneTreeiENSGT00520000055559.
HOGENOMiHOG000220877.
HOVERGENiHBG003694.
InParanoidiQ99748.
OMAiDAHSRYH.
OrthoDBiEOG75XGNJ.
PhylomeDBiQ99748.
TreeFamiTF332366.

Enzyme and pathway databases

ReactomeiREACT_18312. NCAM1 interactions.

Miscellaneous databases

GenomeRNAii4902.
NextBioi18867.
PROiQ99748.
SOURCEiSearch...

Gene expression databases

BgeeiQ99748.
CleanExiHS_NRTN.
GenevestigatoriQ99748.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
[Graphical view]
PfamiPF00019. TGF_beta. 1 hit.
[Graphical view]
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Melanoma.
  3. 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.

Entry informationi

Entry nameiNRTN_HUMAN
AccessioniPrimary (citable) accession number: Q99748
Secondary accession number(s): B2RPE8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: January 7, 2015
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.