Homo sapiens Protein: NODAL
Summary
InnateDB Protein IDBP-77434.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NODAL
Protein Name nodal homolog (mouse)
Synonyms HTX5;
Species Homo sapiens
Ensembl Protein ENSP00000287139
InnateDB Gene IDBG-77432 (NODAL)
Protein Structure
UniProt Annotation
Function Essential for mesoderm formation and axial patterning during embryonic development. {ECO:0000250}.
Subcellular Localization Secreted {ECO:0000250}.
Disease Associations 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. {ECO:0000269PubMed:19064609, ECO:0000269PubMed:9354794}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005125 cytokine activity
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0016015 morphogen activity
GO:0048018 receptor agonist activity
GO:0070698 type I activin receptor binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001701 in utero embryonic development
GO:0001702 gastrulation with mouth forming second
GO:0001707 mesoderm formation
GO:0001829 trophectodermal cell differentiation
GO:0001831 trophectodermal cellular morphogenesis
GO:0001842 neural fold formation
GO:0001889 liver development
GO:0001890 placenta development
GO:0001892 embryonic placenta development
GO:0001893 maternal placenta development
GO:0001944 vasculature development
GO:0001947 heart looping
GO:0002085 inhibition of neuroepithelial cell differentiation
GO:0007368 determination of left/right symmetry
GO:0007369 gastrulation
GO:0007399 nervous system development
GO:0007420 brain development
GO:0007492 endoderm development
GO:0007507 heart development
GO:0008284 positive regulation of cell proliferation
GO:0009880 embryonic pattern specification
GO:0009948 anterior/posterior axis specification
GO:0009952 anterior/posterior pattern specification
GO:0009966 regulation of signal transduction
GO:0010085 polarity specification of proximal/distal axis
GO:0010470 regulation of gastrulation
GO:0010575 positive regulation vascular endothelial growth factor production
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016477 cell migration
GO:0019827 stem cell maintenance
GO:0022409 positive regulation of cell-cell adhesion
GO:0030324 lung development
GO:0032927 positive regulation of activin receptor signaling pathway
GO:0033505 floor plate morphogenesis
GO:0035050 embryonic heart tube development
GO:0035987 endodermal cell differentiation
GO:0038092 nodal signaling pathway
GO:0040007 growth
GO:0042074 cell migration involved in gastrulation
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045165 cell fate commitment
GO:0045596 negative regulation of cell differentiation
GO:0045766 positive regulation of angiogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048327 axial mesodermal cell fate specification
GO:0048382 mesendoderm development
GO:0048546 digestive tract morphogenesis
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048729 tissue morphogenesis
GO:0048859 formation of anatomical boundary
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0055123 digestive system development
GO:0060136 embryonic process involved in female pregnancy
GO:0060137 maternal process involved in parturition
GO:0060391 positive regulation of SMAD protein import into nucleus
GO:0060395 SMAD protein signal transduction
GO:0060460 left lung morphogenesis
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0060802 epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0090009 primitive streak formation
GO:0090010 transforming growth factor beta receptor signaling pathway involved in primitive streak formation
GO:1900164 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
GO:1900224 positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
GO:1901164 negative regulation of trophoblast cell migration
GO:1901383 negative regulation of chorionic trophoblast cell proliferation
GO:2000036 regulation of stem cell maintenance
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
Protein Structure and Domains
PDB ID
InterPro IPR001111 Transforming growth factor-beta, N-terminal
IPR001839 Transforming growth factor-beta, C-terminal
IPR029034 Cystine-knot cytokine
PFAM PF00688
PF00019
PRINTS
PIRSF
SMART SM00204
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96S42
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 4838
UniGene Hs.370414
RefSeq NP_060525
HUGO HGNC:7865
OMIM 601265
CCDS CCDS7304
HPRD 08370
IMGT
EMBL AB067632 AC022532 BC033585 BC104976 BC112025
GenPept AAH33585 AAI04977 AAI12026 BAB62524