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Protein

Nodal homolog

Gene

NODAL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • cytokine activity Source: GO_Central
  • morphogen activity Source: BHF-UCL
  • transforming growth factor beta receptor binding Source: GO_Central
  • type I activin receptor binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Cytokine, Developmental protein, Growth factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156574-MONOMER.
ReactomeiR-HSA-1181150. Signaling by NODAL.
R-HSA-1433617. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:7865. NODAL.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Heterotaxy, visceral, 5, autosomal (HTX5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:270100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015111183R → Q in HTX5. 1 PublicationCorresponds to variant rs104894169dbSNPEnsembl.1
Natural variantiVAR_038194203E → K in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant rs10999334dbSNPEnsembl.1
Natural variantiVAR_062281260G → R in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant rs121909283dbSNPEnsembl.1
Natural variantiVAR_062282275R → C in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant rs781366461dbSNPEnsembl.1
Natural variantiVAR_062283284V → F in HTX5; decrease in signal transduction. 1 Publication1

Keywords - Diseasei

Disease mutation, Heterotaxy

Organism-specific databases

DisGeNETi4838.
MalaCardsiNODAL.
MIMi270100. phenotype.
OpenTargetsiENSG00000156574.
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.

Polymorphism and mutation databases

BioMutaiNODAL.
DMDMi166214958.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
PropeptideiPRO_000003399827 – 237Sequence analysisAdd BLAST211
ChainiPRO_0000033999238 – 347Nodal homologAdd BLAST110

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi72N-linked (GlcNAc...)Sequence analysis1
Glycosylationi199N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi247 ↔ 313By similarity
Disulfide bondi276 ↔ 344By similarity
Disulfide bondi280 ↔ 346By similarity
Disulfide bondi312InterchainBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ96S42.
PaxDbiQ96S42.
PeptideAtlasiQ96S42.
PRIDEiQ96S42.

Expressioni

Gene expression databases

BgeeiENSG00000156574.
CleanExiHS_NODAL.
ExpressionAtlasiQ96S42. baseline and differential.
GenevisibleiQ96S42. HS.

Organism-specific databases

HPAiHPA045201.

Interactioni

Subunit structurei

Homodimer; disulfide-linked.By similarity

GO - Molecular functioni

  • cytokine activity Source: GO_Central
  • transforming growth factor beta receptor binding Source: GO_Central
  • type I activin receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110901. 1 interactor.
STRINGi9606.ENSP00000287139.

Structurei

Secondary structure

1347
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni257 – 260Combined sources4
Turni262 – 264Combined sources3
Beta strandi265 – 267Combined sources3
Beta strandi269 – 272Combined sources4
Beta strandi275 – 279Combined sources5
Helixi286 – 288Combined sources3
Helixi292 – 303Combined sources12
Turni305 – 307Combined sources3

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3900. Eukaryota.
ENOG410XT8Z. LUCA.
GeneTreeiENSGT00740000114888.
HOGENOMiHOG000113815.
HOVERGENiHBG108195.
InParanoidiQ96S42.
KOiK04666.
OMAiEVDGQNW.
OrthoDBiEOG091G0AB9.
PhylomeDBiQ96S42.
TreeFamiTF316134.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 1 hit.
PfamiPF00019. TGF_beta. 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_038193165H → R.1 PublicationCorresponds to variant rs1904589dbSNPEnsembl.1
Natural variantiVAR_015111183R → Q in HTX5. 1 PublicationCorresponds to variant rs104894169dbSNPEnsembl.1
Natural variantiVAR_038194203E → K in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant rs10999334dbSNPEnsembl.1
Natural variantiVAR_062281260G → R in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant rs121909283dbSNPEnsembl.1
Natural variantiVAR_062282275R → C in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant rs781366461dbSNPEnsembl.1
Natural variantiVAR_036202279E → K in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs755116310dbSNPEnsembl.1
Natural variantiVAR_062283284V → F in HTX5; decrease in signal transduction. 1 Publication1

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.3. human.

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.
CCDSiCCDS7304.1.
RefSeqiNP_060525.3. NM_018055.4.
UniGeneiHs.370414.

3D structure databases

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

Protein-protein interaction databases

BioGridi110901. 1 interactor.
STRINGi9606.ENSP00000287139.

Polymorphism and mutation databases

BioMutaiNODAL.
DMDMi166214958.

Proteomic databases

EPDiQ96S42.
PaxDbiQ96S42.
PeptideAtlasiQ96S42.
PRIDEiQ96S42.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287139; ENSP00000287139; ENSG00000156574.
GeneIDi4838.
KEGGihsa:4838.
UCSCiuc001jrc.3. human.

Organism-specific databases

CTDi4838.
DisGeNETi4838.
GeneCardsiNODAL.
GeneReviewsiNODAL.
H-InvDBHIX0008897.
HGNCiHGNC:7865. NODAL.
HPAiHPA045201.
MalaCardsiNODAL.
MIMi270100. phenotype.
601265. gene.
neXtProtiNX_Q96S42.
OpenTargetsiENSG00000156574.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3900. Eukaryota.
ENOG410XT8Z. LUCA.
GeneTreeiENSGT00740000114888.
HOGENOMiHOG000113815.
HOVERGENiHBG108195.
InParanoidiQ96S42.
KOiK04666.
OMAiEVDGQNW.
OrthoDBiEOG091G0AB9.
PhylomeDBiQ96S42.
TreeFamiTF316134.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156574-MONOMER.
ReactomeiR-HSA-1181150. Signaling by NODAL.
R-HSA-1433617. Regulation of signaling by NODAL.
SignaLinkiQ96S42.

Miscellaneous databases

GeneWikiiNODAL.
GenomeRNAii4838.
PROiQ96S42.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156574.
CleanExiHS_NODAL.
ExpressionAtlasiQ96S42. baseline and differential.
GenevisibleiQ96S42. HS.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR001839. TGF-b_C.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 1 hit.
PfamiPF00019. TGF_beta. 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]
ProtoNetiSearch...

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 2, 2016
This is version 130 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.