GDF1 - growth differentiation factor 1 Gene

Also Known as RAI; DORV; LAG1; UOG1; CERS1; CHTD6; DTGA3; LASS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2657

About GDF1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,868,545-18,896,158 (from NCBI)

This gene has 1 transcript (splice variant), 65 orthologues, 31 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 26.0) and testis (RPKM 5.5).

Summary

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]

GDF1 Products (2)

mRNA	Protein	Name
NM_001387438.1	NP_001374367.1	embryonic growth/differentiation factor 1 precursor
NM_001492.6	NP_001483.3	embryonic growth/differentiation factor 1 precursor

GDF1 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
372 a.a.

Protein Preferred Names	Protein Names
embryonic growth/differentiation factor 1	Ceramide synthase 1

Related Diseases

Diseases	Alias
Right Atrial Isomerism	Ivemark Syndrome Asplenia With Cardiovascular Anomalies RAI Asplenia Syndrome Asplenia Right Isomerism Splenic Agenesis Syndrome Bilateral Right-Sidedness Sequence Right Sided Atrial Isomerism Isomerism Of Right Atrial Appendage Heterotaxy, Visceroatrial, Autosomal Recessive Polyasplenia Vah, Autosomal Recessive Atrial Isomerism, Right Congenital Absence Of Spleen Bilateral Right-Sidedness
Congenital Heart Defects, Multiple Types, 6	CHTD6 Dtga3 Transposition Of The Great Arteries, Dextro-Looped 3 Transposition Of The Great Arteries, Dextro-Looped 3, Formerly Dtga3, Formerly Multiple Types Of Congenital Heart Defects 6 Dextro-Looped Transposition Of The Great Arteries 3 Heart Defects, Congenital, Multiple Types, Type 6
Epilepsy, Progressive Myoclonic, 8	EPM8 Progressive Myoclonic Epilepsy Type 8 Pme Type 8 Progressive Myoclonic Epilepsy Due To Cers1 Deficiency Progressive Myoclonus Epilepsy Type 8 Epilepsy, Progressive Myoclonic 8 Epilepsy, Myoclonic, Progressive, Type 8
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Conotruncal Heart Malformations	Persistent Truncus Arteriosus Conotruncal Anomaly Face Syndrome Truncus Arteriosus Common Arterial Trunk CTHM Conotruncal Heart Malformations, Variable Tac Truncus Arteriosus Communis Conotruncal Cardiac Defects Common Aorticopulmonary Trunk Cafs Conotruncal Heart Defects Cthd Dorv Double-Outlet Right Ventricle Pta Heart Malformations, Conotruncal Common Truncus Common Truncus Arteriosus Persistent Truncus Arteriosus Or Communis Truncus Communis Common Aortico-Pulmonary Trunk Truncus Arteriosus With Aortic Dominance Truncus Arteriosus With No Aortic Obstruction Truncus Arteriosus With Pulmonary Dominance And Interrupted Aortic Arch Truncus Arteriosus With Interrupted Aortic Arch Common Arterial Trunk With Interrupted Aortic Arch Van Praagh Truncus Arteriosus Type A4
Isolated Congenitally Uncorrected Transposition Of The Great Arteries	Isolated Congenitally Uncorrected Transposition Of The Great Vessels
Heart, Malformation Of
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Hypoplastic Right Heart Syndrome	Right Hypoplastic Heart Syndrome
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Acquired Hyperkeratosis	Acquired Keratoderma Keratoderma - Acquired Keratoderma, Acquired Keratosis Blennorrhagica
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS02536	CERS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05349	GDF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18242	Gdf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24721	Gdf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GDF1	VGNC	VGNC:80050
Mus musculus	GDF1	MGD	MGI:95683
Rattus norvegicus	GDF1	RGD	RGD:1304678
Bos taurus	GDF1	VGNC	VGNC:52236
Others	GDF1	NCBI