Human Gene GDF1 (ENST00000247005.8) Description and Page Index
Description: Homo sapiens growth differentiation factor 1 (GDF1), mRNA. (from RefSeq NM_001492) RefSeq Summary (NM_001492): 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 each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000247005.8 Gencode Gene: ENSG00000130283.9 Transcript (Including UTRs) Position: hg38 chr19:18,868,545-18,896,158 Size: 27,614 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr19:18,868,597-18,870,307 Size: 1,711 Coding Exon Count: 2
ID:GDF1_HUMAN DESCRIPTION: RecName: Full=Embryonic growth/differentiation factor 1; Short=GDF-1; Flags: Precursor; FUNCTION: May mediate cell differentiation events during embryonic development. SUBUNIT: Homodimer; disulfide-linked (By similarity). SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Expressed in the brain. DISEASE: Defects in GDF1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. DISEASE: Defects in GDF1 are the cause of transposition of the great arteries dextro-looped type 3 (DTGA3) [MIM:613854]. A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. DISEASE: Defects in GDF1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. MISCELLANEOUS: This protein is produced by a bicistronic gene which also produces the LASS1 protein from a non-overlapping reading frame. 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 P27539
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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.
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-1266738 Developmental Biology