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Protein

Neurturin

Gene

NRTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • growth factor activity Source: UniProtKB-KW
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • receptor binding Source: ProtInc

GO - Biological processi

  • axon guidance Source: Reactome
  • MAPK cascade Source: Reactome
  • nerve development Source: Ensembl
  • nervous system development Source: ProtInc
  • neural crest cell migration Source: MGI
  • neuron projection development Source: MGI
  • transmembrane receptor protein tyrosine kinase signaling pathway Source: ProtInc

Keywordsi

Molecular functionGrowth factor

Enzyme and pathway databases

ReactomeiR-HSA-419037 NCAM1 interactions
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-8853659 RET signaling
SIGNORiQ99748

Names & Taxonomyi

Protein namesi
Recommended name:
Neurturin
Gene namesi
Name:NRTN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000171119.2
HGNCiHGNC:8007 NRTN
MIMi602018 gene
neXtProtiNX_Q99748

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.1 Publication

Keywords - Diseasei

Disease mutation, Hirschsprung disease

Organism-specific databases

DisGeNETi4902
GeneReviewsiNRTN
MalaCardsiNRTN
OpenTargetsiENSG00000171119
Orphaneti388 Hirschsprung disease
PharmGKBiPA31785

Polymorphism and mutation databases

BioMutaiNRTN
DMDMi2501180

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
PropeptideiPRO_000003401020 – 95By similarityAdd BLAST76
ChainiPRO_000003401196 – 197NeurturinAdd BLAST102

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi103 ↔ 165By similarity
Disulfide bondi130 ↔ 194By similarity
Disulfide bondi134 ↔ 196By similarity
Disulfide bondi164InterchainBy similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ99748
PRIDEiQ99748

PTM databases

PhosphoSitePlusiQ99748

Expressioni

Gene expression databases

BgeeiENSG00000171119
CleanExiHS_NRTN
GenevisibleiQ99748 HS

Organism-specific databases

HPAiHPA065260

Interactioni

Subunit structurei

Homodimer; disulfide-linked.

GO - Molecular functioni

  • growth factor activity Source: UniProtKB-KW
  • Ras guanyl-nucleotide exchange factor activity Source: Reactome
  • receptor binding Source: ProtInc

Protein-protein interaction databases

BioGridi1109583 interactors.
STRINGi9606.ENSP00000302648

Structurei

Secondary structure

1197
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi102 – 111Combined sources10
Helixi112 – 115Combined sources4
Beta strandi117 – 119Combined sources3
Beta strandi124 – 133Combined sources10
Helixi140 – 150Combined sources11
Beta strandi165 – 170Combined sources6
Beta strandi172 – 177Combined sources6
Beta strandi183 – 188Combined sources6
Beta strandi190 – 196Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5MR4X-ray2.40A/B96-197[»]
5MR5X-ray2.00A/B96-197[»]
5MR9X-ray2.40A/B96-197[»]
5NMZX-ray1.60A/B/C/D97-197[»]
ProteinModelPortaliQ99748
SMRiQ99748
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IWH0 Eukaryota
ENOG410YM89 LUCA
GeneTreeiENSGT00520000055559
HOGENOMiHOG000220877
HOVERGENiHBG003694
InParanoidiQ99748
OMAiDAHSRYH
OrthoDBiEOG091G0X70
PhylomeDBiQ99748
TreeFamiTF332366

Family and domain databases

Gene3Di2.10.90.101 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS51362 TGF_BETA_2, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00949896A → S May contribute to Hirschsprung disease in patients carrying a RET mutation. 1 PublicationCorresponds to variant dbSNP:rs575363266Ensembl.1

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_004558.4
XP_011526343.1, XM_011528041.2
UniGeneiHs.234775

Genome annotation databases

EnsembliENST00000303212; ENSP00000302648; ENSG00000171119
GeneIDi4902
KEGGihsa:4902
UCSCiuc002mde.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNRTN_HUMAN
AccessioniPrimary (citable) accession number: Q99748
Secondary accession number(s): B2RPE8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: April 25, 2018
This is version 156 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome