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Q96S42

- NODAL_HUMAN

UniProt

Q96S42 - NODAL_HUMAN

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Protein

Nodal homolog

Gene

NODAL

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

Functioni

Essential for mesoderm formation and axial patterning during embryonic development.By similarity

GO - Molecular functioni

  1. morphogen activity Source: BHF-UCL
  2. type I activin receptor binding Source: BHF-UCL

GO - Biological processi

  1. axial mesodermal cell fate specification Source: Ensembl
  2. brain development Source: Ensembl
  3. cell migration involved in gastrulation Source: Ensembl
  4. digestive tract morphogenesis Source: Ensembl
  5. embryonic cranial skeleton morphogenesis Source: Ensembl
  6. embryonic pattern specification Source: Ensembl
  7. embryonic placenta development Source: Ensembl
  8. embryonic process involved in female pregnancy Source: Ensembl
  9. endodermal cell differentiation Source: BHF-UCL
  10. epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification Source: Ensembl
  11. floor plate morphogenesis Source: Ensembl
  12. formation of anatomical boundary Source: Ensembl
  13. growth Source: InterPro
  14. heart looping Source: Ensembl
  15. inhibition of neuroepithelial cell differentiation Source: Ensembl
  16. left lung morphogenesis Source: Ensembl
  17. liver development Source: Ensembl
  18. maternal placenta development Source: Ensembl
  19. maternal process involved in parturition Source: Ensembl
  20. mesendoderm development Source: BHF-UCL
  21. negative regulation of androgen receptor signaling pathway Source: BHF-UCL
  22. negative regulation of chorionic trophoblast cell proliferation Source: BHF-UCL
  23. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  24. negative regulation of trophoblast cell migration Source: BHF-UCL
  25. neural fold formation Source: Ensembl
  26. nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry Source: Ensembl
  27. placenta development Source: BHF-UCL
  28. polarity specification of proximal/distal axis Source: Ensembl
  29. positive regulation of activin receptor signaling pathway Source: BHF-UCL
  30. positive regulation of angiogenesis Source: BHF-UCL
  31. positive regulation of cell-cell adhesion Source: BHF-UCL
  32. positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: BHF-UCL
  33. positive regulation of epithelial cell proliferation Source: BHF-UCL
  34. positive regulation of ERK1 and ERK2 cascade Source: BHF-UCL
  35. positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry Source: BHF-UCL
  36. positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  37. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  38. positive regulation of SMAD protein import into nucleus Source: BHF-UCL
  39. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  40. positive regulation vascular endothelial growth factor production Source: BHF-UCL
  41. regulation of gastrulation Source: Ensembl
  42. regulation of stem cell maintenance Source: BHF-UCL
  43. SMAD protein signal transduction Source: Ensembl
  44. stem cell maintenance Source: Ensembl
  45. transforming growth factor beta receptor signaling pathway involved in primitive streak formation Source: Ensembl
  46. trophectodermal cellular morphogenesis Source: Ensembl
  47. vasculature development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Cytokine, Developmental protein, Growth factor

Enzyme and pathway databases

ReactomeiREACT_111057. Signaling by NODAL.
REACT_111059. Regulation of signaling by NODAL.
SignaLinkiQ96S42.

Names & Taxonomyi

Protein namesi
Recommended name:
Nodal homolog
Gene namesi
Name:NODAL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:7865. NODAL.

Subcellular locationi

Secreted By similarity

GO - Cellular componenti

  1. extracellular space Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Heterotaxy, visceral, 5, autosomal (HTX5) [MIM:270100]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831R → Q in HTX5. 1 Publication
Corresponds to variant rs104894169 [ dbSNP | Ensembl ].
VAR_015111
Natural varianti203 – 2031E → K in HTX5; decrease in signal transduction. 1 Publication
Corresponds to variant rs10999334 [ dbSNP | Ensembl ].
VAR_038194
Natural varianti260 – 2601G → R in HTX5; decrease in signal transduction. 1 Publication
VAR_062281
Natural varianti275 – 2751R → C in HTX5; decrease in signal transduction. 1 Publication
VAR_062282
Natural varianti284 – 2841V → F in HTX5; decrease in signal transduction. 1 Publication
VAR_062283

Keywords - Diseasei

Disease mutation, Heterotaxy

Organism-specific databases

MIMi270100. phenotype.
Orphaneti93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
157769. Situs ambiguus.
101063. Situs inversus totalis.
PharmGKBiPA31669.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Propeptidei27 – 237211Sequence AnalysisPRO_0000033998Add
BLAST
Chaini238 – 347110Nodal homologPRO_0000033999Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi72 – 721N-linked (GlcNAc...)Sequence Analysis
Glycosylationi199 – 1991N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi247 ↔ 313By similarity
Disulfide bondi276 ↔ 344By similarity
Disulfide bondi280 ↔ 346By similarity
Disulfide bondi312 – 312InterchainBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96S42.
PRIDEiQ96S42.

Expressioni

Gene expression databases

BgeeiQ96S42.
CleanExiHS_NODAL.
ExpressionAtlasiQ96S42. baseline and differential.
GenevestigatoriQ96S42.

Organism-specific databases

HPAiHPA045201.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000287139.

Structurei

Secondary structure

1
347
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni257 – 2604Combined sources
Turni262 – 2643Combined sources
Beta strandi265 – 2673Combined sources
Beta strandi269 – 2724Combined sources
Beta strandi275 – 2795Combined sources
Helixi286 – 2883Combined sources
Helixi292 – 30312Combined sources
Turni305 – 3073Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4N1DX-ray1.91A257-313[»]
ProteinModelPortaliQ96S42.
SMRiQ96S42. Positions 246-346.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG278576.
GeneTreeiENSGT00740000114888.
HOGENOMiHOG000113815.
HOVERGENiHBG108195.
InParanoidiQ96S42.
KOiK04666.
OMAiHRVPSTC.
OrthoDBiEOG7DFXD1.
PhylomeDBiQ96S42.
TreeFamiTF316134.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 1 hit.
PfamiPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
SMARTiSM00204. TGFB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q96S42-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MHAHCLPFLL HAWWALLQAG AATVATALLR TRGQPSSPSP LAYMLSLYRD
60 70 80 90 100
PLPRADIIRS LQAEDVAVDG QNWTFAFDFS FLSQQEDLAW AELRLQLSSP
110 120 130 140 150
VDLPTEGSLA IEIFHQPKPD TEQASDSCLE RFQMDLFTVT LSQVTFSLGS
160 170 180 190 200
MVLEVTRPLS KWLKHPGALE KQMSRVAGEC WPRPPTPPAT NVLLMLYSNL
210 220 230 240 250
SQEQRQLGGS TLLWEAESSW RAQEGQLSWE WGKRHRRHHL PDRSQLCRKV
260 270 280 290 300
KFQVDFNLIG WGSWIIYPKQ YNAYRCEGEC PNPVGEEFHP TNHAYIQSLL
310 320 330 340
KRYQPHRVPS TCCAPVKTKP LSMLYVDNGR VLLDHHKDMI VEECGCL
Length:347
Mass (Da):39,561
Last modified:January 15, 2008 - v2
Checksum:i0D52352B9711650C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1651H → R.1 Publication
Corresponds to variant rs1904589 [ dbSNP | Ensembl ].
VAR_038193
Natural varianti183 – 1831R → Q in HTX5. 1 Publication
Corresponds to variant rs104894169 [ dbSNP | Ensembl ].
VAR_015111
Natural varianti203 – 2031E → K in HTX5; decrease in signal transduction. 1 Publication
Corresponds to variant rs10999334 [ dbSNP | Ensembl ].
VAR_038194
Natural varianti260 – 2601G → R in HTX5; decrease in signal transduction. 1 Publication
VAR_062281
Natural varianti275 – 2751R → C in HTX5; decrease in signal transduction. 1 Publication
VAR_062282
Natural varianti279 – 2791E → K in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036202
Natural varianti284 – 2841V → F in HTX5; decrease in signal transduction. 1 Publication
VAR_062283

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7304.1.
RefSeqiNP_060525.3. NM_018055.4.
UniGeneiHs.370414.

Genome annotation databases

EnsembliENST00000287139; ENSP00000287139; ENSG00000156574.
GeneIDi4838.
KEGGihsa:4838.
UCSCiuc001jrc.2. human.

Polymorphism databases

DMDMi166214958.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS7304.1.
RefSeqi NP_060525.3. NM_018055.4.
UniGenei Hs.370414.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4N1D X-ray 1.91 A 257-313 [» ]
ProteinModelPortali Q96S42.
SMRi Q96S42. Positions 246-346.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000287139.

Polymorphism databases

DMDMi 166214958.

Proteomic databases

PaxDbi Q96S42.
PRIDEi Q96S42.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000287139 ; ENSP00000287139 ; ENSG00000156574 .
GeneIDi 4838.
KEGGi hsa:4838.
UCSCi uc001jrc.2. human.

Organism-specific databases

CTDi 4838.
GeneCardsi GC10M072191.
GeneReviewsi NODAL.
H-InvDB HIX0008897.
HGNCi HGNC:7865. NODAL.
HPAi HPA045201.
MIMi 270100. phenotype.
601265. gene.
neXtProti NX_Q96S42.
Orphaneti 93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
157769. Situs ambiguus.
101063. Situs inversus totalis.
PharmGKBi PA31669.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG278576.
GeneTreei ENSGT00740000114888.
HOGENOMi HOG000113815.
HOVERGENi HBG108195.
InParanoidi Q96S42.
KOi K04666.
OMAi HRVPSTC.
OrthoDBi EOG7DFXD1.
PhylomeDBi Q96S42.
TreeFami TF316134.

Enzyme and pathway databases

Reactomei REACT_111057. Signaling by NODAL.
REACT_111059. Regulation of signaling by NODAL.
SignaLinki Q96S42.

Miscellaneous databases

GeneWikii NODAL.
GenomeRNAii 4838.
NextBioi 18642.
PROi Q96S42.
SOURCEi Search...

Gene expression databases

Bgeei Q96S42.
CleanExi HS_NODAL.
ExpressionAtlasi Q96S42. baseline and differential.
Genevestigatori Q96S42.

Family and domain databases

Gene3Di 2.10.90.10. 1 hit.
InterProi IPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view ]
PANTHERi PTHR11848. PTHR11848. 1 hit.
Pfami PF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view ]
SMARTi SM00204. TGFB. 1 hit.
[Graphical view ]
SUPFAMi SSF57501. SSF57501. 1 hit.
PROSITEi PS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain cortex and Fetal brain.
  4. Cited for: VARIANT HTX5 GLN-183.
  5. 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] [Europe PMC] [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.

Entry informationi

Entry nameiNODAL_HUMAN
AccessioniPrimary (citable) accession number: Q96S42
Secondary accession number(s): Q2M3A5, Q8N4V3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: January 15, 2008
Last modified: November 26, 2014
This is version 112 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3