SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q99748

- NRTN_HUMAN

UniProt

Q99748 - NRTN_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Neurturin
Gene
NRTN
Organism
Homo sapiens (Human)
Status
Reviewed - 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
Complete GO annotation...

GO - Biological processi

  1. MAPK cascade Source: ProtInc
  2. axon guidance Source: Reactome
  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.1 Publication

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 – 1919 Reviewed prediction
Add
BLAST
Propeptidei20 – 9576 By similarity
PRO_0000034010Add
BLAST
Chaini96 – 197102Neurturin
PRO_0000034011Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi103 ↔ 165 By similarity
Disulfide bondi130 ↔ 194 By similarity
Disulfide bondi134 ↔ 196 By similarity
Disulfide bondi164 – 164Interchain By 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. 4 interactions.
STRINGi9606.ENSP00000302648.

Structurei

3D structure databases

ProteinModelPortaliQ99748.
SMRiQ99748. Positions 100-197.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG42785.
HOGENOMiHOG000220877.
HOVERGENiHBG003694.
InParanoidiQ99748.
OMAiMCREGLL.
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

MQRWKAAALA SVLCSSVLSI WMCREGLLLS HRLGPALVPL HRLPRTLDAR    50
IARLAQYRAL LQGAPDAMEL RELTPWAGRP PGPRRRAGPR RRRARARLGA 100
RPCGLRELEV RVSELGLGYA SDETVLFRYC AGACEAAARV YDLGLRRLRQ 150
RRRLRRERVR AQPCCRPTAY EDEVSFLDAH SRYHTVHELS ARECACV 197
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS12151.1.
PIRi T47159.
RefSeqi NP_004549.1. NM_004558.3.
UniGenei Hs.234775.

3D structure databases

ProteinModelPortali Q99748.
SMRi Q99748. Positions 100-197.
ModBasei Search...

Protein-protein interaction databases

BioGridi 110958. 4 interactions.
STRINGi 9606.ENSP00000302648.

PTM databases

PhosphoSitei Q99748.

Polymorphism databases

DMDMi 2501180.

Proteomic databases

PaxDbi Q99748.
PRIDEi Q99748.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303212 ; ENSP00000302648 ; ENSG00000171119 .
GeneIDi 4902.
KEGGi hsa:4902.
UCSCi uc002mde.3. human.

Organism-specific databases

CTDi 4902.
GeneCardsi GC19P005774.
GeneReviewsi NRTN.
HGNCi HGNC:8007. NRTN.
MIMi 602018. gene.
neXtProti NX_Q99748.
Orphaneti 388. Hirschsprung disease.
PharmGKBi PA31785.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42785.
HOGENOMi HOG000220877.
HOVERGENi HBG003694.
InParanoidi Q99748.
OMAi MCREGLL.
OrthoDBi EOG75XGNJ.
PhylomeDBi Q99748.
TreeFami TF332366.

Enzyme and pathway databases

Reactomei REACT_18312. NCAM1 interactions.

Miscellaneous databases

GenomeRNAii 4902.
NextBioi 18867.
PROi Q99748.
SOURCEi Search...

Gene expression databases

Bgeei Q99748.
CleanExi HS_NRTN.
Genevestigatori Q99748.

Family and domain databases

Gene3Di 2.10.90.10. 1 hit.
InterProi IPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
[Graphical view ]
Pfami PF00019. TGF_beta. 1 hit.
[Graphical view ]
SMARTi SM00204. TGFB. 1 hit.
[Graphical view ]
SUPFAMi SSF57501. SSF57501. 1 hit.
PROSITEi PS51362. TGF_BETA_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 130 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