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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:18,868,545-18,896,158)mRNA (may differ from genome)Protein (372 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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.

-  MalaCards Disease Associations
  MalaCards Gene Search: GDF1
Diseases sorted by gene-association score: right atrial isomerism* (1384), conotruncal heart malformations* (1337), transposition of great arteries, dextro-looped 3* (1300), tetralogy of fallot* (397), heterotaxy, visceral, 1, x-linked* (283), heterotaxy* (283), dextro-looped transposition of the great arteries* (43), transposition of the great arteries (28), ventricular septal defect (11), atrioventricular septal defect (11), tricuspid atresia (8), tricuspid valve disease (8), heart septal defect (7), ebstein anomaly (6), pulmonary valve insufficiency (5), heart cancer (5), atrial heart septal defect (5), visceral heterotaxy (4), heart disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -626.001408-0.445 Picture PostScript Text
3' UTR -19.4052-0.373 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002405 - Inhibin_asu
IPR001839 - TGF-b_C
IPR001111 - TGF-b_N
IPR015615 - TGF-beta-rel
IPR017948 - TGFb_CS

Pfam Domains:
PF00019 - Transforming growth factor beta like domain
PF00688 - TGF-beta propeptide

ModBase Predicted Comparative 3D Structure on P27539
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0008083 growth factor activity

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

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000247005.1, ENST00000247005.2, ENST00000247005.3, ENST00000247005.4, ENST00000247005.5, ENST00000247005.6, ENST00000247005.7, GDF1_HUMAN, NM_001492, O43344, P27539, uc060vuk.1, uc060vuk.2
UCSC ID: ENST00000247005.8
RefSeq Accession: NM_001492
Protein: P27539 (aka GDF1_HUMAN)
CCDS: CCDS42526.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.