Human Gene GDF1 (ENST00000247005.8) from GENCODE V44
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.
Biological Process: GO:0010469 regulation of receptor activity GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0030509 BMP signaling pathway GO:0042981 regulation of apoptotic process GO:0043408 regulation of MAPK cascade GO:0048468 cell development GO:0060395 SMAD protein signal transduction
Cellular Component: GO:0005576 extracellular region GO:0005615 extracellular space
Descriptions from all associated GenBank mRNAs
M62302 - Human growth/differentiation factor 1 (GDF-1) mRNA, complete cds. LF384377 - JP 2014500723-A/191880: Polycomb-Associated Non-Coding RNAs. MA619954 - JP 2018138019-A/191880: Polycomb-Associated Non-Coding RNAs. AB209169 - Homo sapiens mRNA for growth differentiation factor 1 variant protein. JD352794 - Sequence 333818 from Patent EP1572962. JD129169 - Sequence 110193 from Patent EP1572962. JD458595 - Sequence 439619 from Patent EP1572962. JD229951 - Sequence 210975 from Patent EP1572962. JD081420 - Sequence 62444 from Patent EP1572962. JD144347 - Sequence 125371 from Patent EP1572962. JD492135 - Sequence 473159 from Patent EP1572962. JD335698 - Sequence 316722 from Patent EP1572962. JD406044 - Sequence 387068 from Patent EP1572962. JD387571 - Sequence 368595 from Patent EP1572962. JD209986 - Sequence 191010 from Patent EP1572962. JD406779 - Sequence 387803 from Patent EP1572962. JD391963 - Sequence 372987 from Patent EP1572962. JD398498 - Sequence 379522 from Patent EP1572962. JD398932 - Sequence 379956 from Patent EP1572962. JD322023 - Sequence 303047 from Patent EP1572962. JD116246 - Sequence 97270 from Patent EP1572962. JD115451 - Sequence 96475 from Patent EP1572962. JD189299 - Sequence 170323 from Patent EP1572962. JD462468 - Sequence 443492 from Patent EP1572962. JD067325 - Sequence 48349 from Patent EP1572962. JD160153 - Sequence 141177 from Patent EP1572962. JD253686 - Sequence 234710 from Patent EP1572962. JD150551 - Sequence 131575 from Patent EP1572962. JD128797 - Sequence 109821 from Patent EP1572962. JD143294 - Sequence 124318 from Patent EP1572962. JD381520 - Sequence 362544 from Patent EP1572962. JD062425 - Sequence 43449 from Patent EP1572962. BC032615 - Homo sapiens cDNA clone IMAGE:5557395, containing frame-shift errors. BC084582 - Homo sapiens LAG1 homolog, ceramide synthase 1, mRNA (cDNA clone MGC:90349 IMAGE:6192817), complete cds. BC022450 - Homo sapiens growth differentiation factor 1, mRNA (cDNA clone MGC:25992 IMAGE:4797772), complete cds. AK293463 - Homo sapiens cDNA FLJ56956 complete cds, highly similar to LAG1 longevity assurance homolog 1. KJ902147 - Synthetic construct Homo sapiens clone ccsbBroadEn_11541 CERS1 gene, encodes complete protein. JD087528 - Sequence 68552 from Patent EP1572962. JD462004 - Sequence 443028 from Patent EP1572962. JD326786 - Sequence 307810 from Patent EP1572962. JD136356 - Sequence 117380 from Patent EP1572962. JD078694 - Sequence 59718 from Patent EP1572962. JD555250 - Sequence 536274 from Patent EP1572962. LF372651 - JP 2014500723-A/180154: Polycomb-Associated Non-Coding RNAs. MA608228 - JP 2018138019-A/180154: Polycomb-Associated Non-Coding RNAs. JD084811 - Sequence 65835 from Patent EP1572962. JD363496 - Sequence 344520 from Patent EP1572962. JD249213 - Sequence 230237 from Patent EP1572962. JD361751 - Sequence 342775 from Patent EP1572962. JD438722 - Sequence 419746 from Patent EP1572962. JD470255 - Sequence 451279 from Patent EP1572962. JD214999 - Sequence 196023 from Patent EP1572962. JD443951 - Sequence 424975 from Patent EP1572962. JD405035 - Sequence 386059 from Patent EP1572962. JD406625 - Sequence 387649 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P27539 (Reactome details) participates in the following event(s):
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
US Server
