CERS1 - ceramide synthase 1 Gene

Homo sapiens

Also known as EPM8; GDF1; LAG1; UOG1; GDF-1; LASS1

Gene ID: 10715 | Gene type: protein coding

About CERS1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,868,545-18,896,982 (from NCBI)

This gene has 4 transcripts (splice variants), 185 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 22.5) and testis (RPKM 5.1).

Summary

This gene encodes a ceramide synthase Enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded Enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes Growth Differentiation Factor 1. [provided by RefSeq, Jul 2016]

CERS1 Products(10)

mRNA	Protein	Name
NM_001290265.2	NP_001277194.1	ceramide synthase 1 isoform 3
NM_001387439.1	NP_001374368.1	ceramide synthase 1 isoform 4
NM_001387440.1	NP_001374369.1	ceramide synthase 1 isoform 1
NM_001387441.1	NP_001374370.1	ceramide synthase 1 isoform 5
NM_001387442.1	NP_001374371.1	ceramide synthase 1 isoform 6
NM_001387443.1	NP_001374372.1	ceramide synthase 1 isoform 6
NM_001387444.1	NP_001374373.1	ceramide synthase 1 isoform 3
NM_001387445.1	NP_001374374.1	ceramide synthase 1 isoform 3
NM_021267.5	NP_067090.1	ceramide synthase 1 isoform 1
NM_198207.3	NP_937850.1	ceramide synthase 1 isoform 2

CERS1 Protein Structure

TRAM_LAG1_CLN8

0
100
200
300
350 a.a.

Protein Preferred Names

Protein Names

ceramide synthase 1

Embryonic growth/differentiation factor 1

Related Diseases

Diseases

Alias

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

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

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

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

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]

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Heart, Malformation Of

Myoclonus

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

Myoclonus Epilepsy

Epilepsies, Myoclonic

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

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

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome	SMAPME
Sma-Pme	Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome	Hereditary Myoclonus With Progressive Distal Muscular Atrophy
Jankovic Rivera Syndrome	Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
Myoclonus Hereditary Progressive Distal Muscular Atrophy	Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6	Epm6
Gosr2-Related Progressive Myoclonus Ataxia	North Sea Progressive Myoclonus Epilepsy
Pme Type 6	Progressive Myoclonus Epilepsy Type 6
Epilepsy, Progressive Myoclonic, 6

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I	Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
Hsan1e	Hsan1
Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy	Hsn1e
Hsnie	Hereditary Sensory Neuropathy Type Ie
Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory And Autonomic Neuropathy Type 1e	Hereditary Sensory Neuropathy With Hearing Loss And Dementia
Dnmt1-Complex Disorder	Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
Hsn Ie	Hereditary Sensory Autonomic Neuropathy, Type 1
Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

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

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-126015	P053	Inhibitor	≥97.0%	Unkown
HY-120803	Mefluidide		/	Unkown
HY-146910S	CER1 (d18:1/26:0/18:1)-d9		/	Unkown
HY-RS02532	CER1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS02536	CERS1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CERS1	VGNC	VGNC:109598
Felis catus	CERS1	VGNC	VGNC:80020
Mus musculus	CERS1	MGD	MGI:2136690
Bos taurus	CERS1	VGNC	VGNC:52228
Rattus norvegicus	CERS1	RGD	RGD:1305974

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