Reviewed,
UniProtKB/Swiss-Prot Q99748 (NRTN_HUMAN)
Last modified
June 16, 2009.
Version 83.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Neurturin | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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 | |
| Involvement in disease | Defects in NRTN are a cause of Hirschsprung disease (HSCR) [MIM:142623]. In association with mutations of RET gene, and possibly with other loci, defects in NRTN are involved in Hirschsprung disease. This genetic disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction. Ref.3 |
| 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 |
| Gene Ontology (GO) | |
| Biological process | MAPKKK cascade Ref.1 Traceable author statement. Source: ProtInc neural crest cell migrationInferred from direct assay. Source: MGI neuron projection developmentInferred from direct assay. Source: MGI transmembrane receptor protein tyrosine kinase signaling pathwayTraceable author statement. Source: ProtInc |
| Cellular component | extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | growth factor activity Inferred from electronic annotation. Source: UniProtKB-KW |
| 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 in HSCR; associated to a RET mutation; incomplete penetrance. dbSNP rs1801281. Ref.3 | VAR_009498 | |||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| U78110 mRNA. Translation: AAC50898.1. AL161995 mRNA. Translation: CAB82327.1. | |
| IPI | IPI00017787. |
| PIR | T47159. |
| RefSeq | NP_004549.1. |
| UniGene | Hs.234775 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1AGQ based on UniProtKB Q07731. |
| ModBase | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000171119. Homo sapiens. [Contig view] |
| GeneID | 4902. |
| KEGG | hsa:4902. |
Organism-specific databases | |
| GeneCards | GC19P005774. |
| H-InvDB | HIX0014687. |
| HGNC | HGNC:8007. NRTN. |
| MIM | 142623. phenotype. 602018. gene. |
| Orphanet | 388. Hirschsprung disease. |
| PharmGKB | PA31785. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q99748. |
| HOVERGEN | Q99748. |
| OMA | Q99748. MCREGLL. |
Gene expression databases | |
| ArrayExpress | Q99748. |
| Bgee | Q99748. |
| CleanEx | HS_NRTN. |
| GermOnline | ENSG00000171119. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001839. TGFb. IPR017948. TGFb_CS. [Graphical view] |
| Pfam | PF00019. TGF_beta. 1 hit. [Graphical view] |
| ProDom | PD000357. TGFb. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| 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 Resources | |
| NextBio | 18867. |
| SOURCE | Search... |
Entry information
| Entry name | NRTN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q99748 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


