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Q96S42

- NODAL_HUMAN

UniProt

Q96S42 - NODAL_HUMAN

Protein

Nodal homolog

Gene

NODAL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ96S42.
    BgeeiQ96S42.
    CleanExiHS_NODAL.
    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 – 2604
    Turni262 – 2643
    Beta strandi265 – 2673
    Beta strandi269 – 2724
    Beta strandi275 – 2795
    Helixi286 – 2883
    Helixi292 – 30312
    Turni305 – 3073

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MHAHCLPFLL HAWWALLQAG AATVATALLR TRGQPSSPSP LAYMLSLYRD    50
    PLPRADIIRS LQAEDVAVDG QNWTFAFDFS FLSQQEDLAW AELRLQLSSP 100
    VDLPTEGSLA IEIFHQPKPD TEQASDSCLE RFQMDLFTVT LSQVTFSLGS 150
    MVLEVTRPLS KWLKHPGALE KQMSRVAGEC WPRPPTPPAT NVLLMLYSNL 200
    SQEQRQLGGS TLLWEAESSW RAQEGQLSWE WGKRHRRHHL PDRSQLCRKV 250
    KFQVDFNLIG WGSWIIYPKQ YNAYRCEGEC PNPVGEEFHP TNHAYIQSLL 300
    KRYQPHRVPS TCCAPVKTKP LSMLYVDNGR VLLDHHKDMI VEECGCL 347
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    ArrayExpressi Q96S42.
    Bgeei Q96S42.
    CleanExi HS_NODAL.
    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

    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: October 1, 2014
    This is version 110 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