GDF1 - growth differentiation factor 1 Gene

Homo sapiens

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

Gene ID: 2657 | Gene type: protein coding

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

Recombinant GDF1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P79247	GDF-1 Protein, Human (CHO)	NP_001483 (D254-R372)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05349	GDF1 Human Pre-designed siRNA Set A		/	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
Canis familiaris	GDF1	NCBI
Macaca fascicularis	GDF1	NCBI
Others	GDF1	NCBI