Human Gene NODAL (ENST00000287139.8) from GENCODE V44
Description: Homo sapiens nodal growth differentiation factor (NODAL), transcript variant 1, mRNA. (from RefSeq NM_018055) RefSeq Summary (NM_018055): This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]. Gencode Transcript: ENST00000287139.8 Gencode Gene: ENSG00000156574.10 Transcript (Including UTRs) Position: hg38 chr10:70,431,936-70,441,681 Size: 9,746 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr10:70,432,936-70,441,667 Size: 8,732 Coding Exon Count: 3
ID:NODAL_HUMAN DESCRIPTION: RecName: Full=Nodal homolog; Flags: Precursor; FUNCTION: Essential for mesoderm formation and axial patterning during embryonic development (By similarity). SUBUNIT: Homodimer; disulfide-linked (By similarity). SUBCELLULAR LOCATION: Secreted (By similarity). DISEASE: Defects in NODAL are the cause of visceral heterotaxy autosomal type 5 (HTX5) [MIM:270100]. A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy autosomal type 5 include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncuscommunis, and dextrocardia. SIMILARITY: Belongs to the TGF-beta family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96S42
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04350 - TGF-beta signaling pathway
Reactome (by CSHL, EBI, and GO)
Protein Q96S42 (Reactome details) participates in the following event(s):
R-HSA-1181152 Cleavage of NODAL proprotein R-HSA-1181352 LEFTY binds NODAL R-HSA-1181354 CERBERUS binds NODAL R-HSA-1181155 The NODAL Receptor binds NODAL ligands R-HSA-1181156 Type II Activin Receptor (ActRII/ACVR2) phosphorylates Type I Activin Receptor (ActRIB/ACVR1B) in response to NODAL R-HSA-1225894 Type II Activin Receptor (ActRIIB/ACVR2B) phosphorylates Type I Activin Receptor (ActRIC/ACVR1C) in response to NODAL R-HSA-1181355 Phosphorylation of R-SMAD2/3 by NODAL receptor R-HSA-1181150 Signaling by NODAL R-HSA-1433617 Regulation of signaling by NODAL R-HSA-1266738 Developmental Biology
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