Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Nodal homolog

Gene

NODAL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • growth factor activity Source: UniProtKB-KW
  • 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

Keywordsi

Molecular functionCytokine, Developmental protein, Growth factor

Enzyme and pathway databases

ReactomeiR-HSA-1181150 Signaling by NODAL
R-HSA-1433617 Regulation of signaling by NODAL
SignaLinkiQ96S42
SIGNORiQ96S42

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

EuPathDBiHostDB:ENSG00000156574.9
HGNCiHGNC:7865 NODAL
MIMi601265 gene
neXtProtiNX_Q96S42

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs104894169EnsemblClinVar.1
Natural variantiVAR_038194203E → K in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant dbSNP:rs10999334EnsemblClinVar.1
Natural variantiVAR_062281260G → R in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant dbSNP:rs121909283EnsemblClinVar.1
Natural variantiVAR_062282275R → C in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant dbSNP:rs781366461Ensembl.1
Natural variantiVAR_062283284V → F in HTX5; decrease in signal transduction. 1 Publication1

Keywords - Diseasei

Disease mutation, Heterotaxy

Organism-specific databases

DisGeNETi4838
GeneReviewsiNODAL
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...) asparagineSequence analysis1
Glycosylationi199N-linked (GlcNAc...) asparagineSequence 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

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

Protein-protein interaction databases

BioGridi110901, 1 interactor
IntActiQ96S42, 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
GeneTreeiENSGT00910000143982
HOGENOMiHOG000113815
HOVERGENiHBG108195
InParanoidiQ96S42
KOiK04666
OMAiHRVPSTC
OrthoDBiEOG091G0AB9
PhylomeDBiQ96S42
TreeFamiTF316134

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

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 → R1 PublicationCorresponds to variant dbSNP:rs1904589EnsemblClinVar.1
Natural variantiVAR_015111183R → Q in HTX5. 1 PublicationCorresponds to variant dbSNP:rs104894169EnsemblClinVar.1
Natural variantiVAR_038194203E → K in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant dbSNP:rs10999334EnsemblClinVar.1
Natural variantiVAR_062281260G → R in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant dbSNP:rs121909283EnsemblClinVar.1
Natural variantiVAR_062282275R → C in HTX5; decrease in signal transduction. 1 PublicationCorresponds to variant dbSNP:rs781366461Ensembl.1
Natural variantiVAR_036202279E → K in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs755116310Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiNODAL_HUMAN
AccessioniPrimary (citable) accession number: Q96S42
Secondary accession number(s): Q2M3A5, Q8N4V3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: January 15, 2008
Last modified: May 23, 2018
This is version 141 of the entry and version 2 of the sequence. See 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

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how uniprot.org is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health