Q96S42 (NODAL_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 81.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Nodal homolog | ||
| 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 | 347 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 | Essential for mesoderm formation and axial patterning during embryonic development By similarity. |
| Subunit structure | Homodimer; disulfide-linked By similarity. |
| Subcellular location | Secreted By similarity. |
| Involvement in disease | Defects in NODAL are the cause of visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy autosomal type 5 include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncuscommunis, and dextrocardia. Ref.4 Ref.6 |
| Sequence similarities | Belongs to the TGF-beta family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation Heterotaxy |
| Domain | Signal |
| Molecular function | Cytokine Developmental protein Growth factor |
| PTM | Cleavage on pair of basic residues Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | growth Inferred from electronic annotation. Source: InterPro |
| Cellular component | extracellular space Inferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | cytokine activity Inferred from electronic annotation. Source: UniProtKB-KW growth factor activityInferred 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 – 26 | 26 | Potential | ||||||||
| Propeptide | 27 – 237 | 211 | Potential | PRO_0000033998 | |||||||
| Chain | 238 – 347 | 110 | Nodal homolog | PRO_0000033999 | |||||||
Amino acid modifications | |||||||||||
| Glycosylation | 72 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 199 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 247 ↔ 313 | By similarity | |||||||||
| Disulfide bond | 276 ↔ 344 | By similarity | |||||||||
| Disulfide bond | 280 ↔ 346 | By similarity | |||||||||
| Disulfide bond | 312 | Interchain By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 165 | 1 | H → R. Ref.1 Corresponds to variant rs1904589 [ dbSNP | Ensembl ]. | VAR_038193 | |||||||
| Natural variant | 183 | 1 | R → Q in HTX5. Ref.4 | VAR_015111 | |||||||
| Natural variant | 203 | 1 | E → K in HTX5; decrease in signal transduction. Ref.6 Corresponds to variant rs10999334 [ dbSNP | Ensembl ]. | VAR_038194 | |||||||
| Natural variant | 260 | 1 | G → R in HTX5; decrease in signal transduction. Ref.6 | VAR_062281 | |||||||
| Natural variant | 275 | 1 | R → C in HTX5; decrease in signal transduction. Ref.6 | VAR_062282 | |||||||
| Natural variant | 279 | 1 | E → K in a colorectal cancer sample; somatic mutation. Ref.5 | VAR_036202 | |||||||
| Natural variant | 284 | 1 | V → F in HTX5; decrease in signal transduction. Ref.6 | VAR_062283 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human Nodal-related gene." Tate Genshu T. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ARG-165. |
| [2] | "The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. Rogers J.Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain cortex and Fetal brain. |
| [4] | "X-linked situs abnormalities result from mutations in ZIC3." Gebbia M., Ferrero G.B., Pilia G., Bassi M.T., Aylsworth A.S., Penman-Splitt M., Bird L.M., Bamforth J.S., Burn J., Schlessiner D., Nelson D.L., Casey B. Nat. Genet. 17:305-308(1997) [PubMed: 9354794] [Abstract] Cited for: VARIANT HTX5 GLN-183. |
| [5] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-279. |
| [6] | "Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations." Mohapatra B., Casey B., Li H., Ho-Dawson T., Smith L., Fernbach S.D., Molinari L., Niesh S.R., Jefferies J.L., Craigen W.J., Towbin J.A., Belmont J.W., Ware S.M. Hum. Mol. Genet. 18:861-871(2009) [PubMed: 19064609] [Abstract] Cited for: VARIANTS HTX5 LYS-203; ARG-260; CYS-275 AND PHE-284, CHARACTERIZATION OF VARIANTS HTX5 LYS-203; ARG-260; CYS-275 AND PHE-284. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB067632 Genomic DNA. Translation: BAB62524.1. AC022532 Genomic DNA. No translation available. BC033585 mRNA. Translation: AAH33585.1. BC104976 mRNA. Translation: AAI04977.1. BC112025 mRNA. Translation: AAI12026.1. |
| IPI | IPI00045497. |
| RefSeq | NP_060525.3. NM_018055.4. |
| UniGene | Hs.370414. |
3D structure databases | |
| ProteinModelPortal | Q96S42. |
| SMR | Q96S42. Positions 241-346. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q96S42. |
Polymorphism databases | |
| DMDM | 166214958. |
Proteomic databases | |
| PRIDE | Q96S42. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000287139; ENSP00000287139; ENSG00000156574. |
| GeneID | 4838. |
| KEGG | hsa:4838. |
| UCSC | uc001jrc.1. human. |
Organism-specific databases | |
| CTD | 4838. |
| GeneCards | GC10M072191. |
| H-InvDB | HIX0008897. |
| HGNC | HGNC:7865. NODAL. |
| MIM | 270100. phenotype. 601265. gene. |
| neXtProt | NX_Q96S42. |
| PharmGKB | PA31669. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG11275. |
| GeneTree | ENSGT00600000084167. |
| HOGENOM | HBG713475. |
| HOVERGEN | HBG108195. |
| InParanoid | Q96S42. |
| OMA | HRVPSTC. |
| OrthoDB | EOG4NGGNG. |
| PhylomeDB | Q96S42. |
Enzyme and pathway databases | |
| Reactome | REACT_111045. Developmental Biology. |
Gene expression databases | |
| ArrayExpress | Q96S42. |
| Bgee | Q96S42. |
| CleanEx | HS_NODAL. |
| Genevestigator | Q96S42. |
| GermOnline | ENSG00000156574. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001839. TGF-b_C. IPR001111. TGF-b_N. IPR015615. TGF-beta-rel. IPR017948. TGFb_CS. [Graphical view] |
| KO | K04666. |
| PANTHER | PTHR11848. TGFbeta. 1 hit. |
| Pfam | PF00019. TGF_beta. 1 hit. PF00688. TGFb_propeptide. 1 hit. [Graphical view] |
| SMART | SM00204. TGFB. 1 hit. [Graphical view] |
| PROSITE | PS00250. TGF_BETA_1. 1 hit. PS51362. TGF_BETA_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 18642. |
| SOURCE | Search... |
Entry information
| Entry name | NODAL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96S42 Secondary accession number(s): Q2M3A5, Q8N4V3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 10 Human chromosome 10: 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