CERS1 - ceramide synthase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10715

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables sphingosine N-acyltransferase activity	IDA IDA: Inferred from direct assay	24782409	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to UV-A	IDA IDA: Inferred from direct assay	19800881	GOA
involved in cellular response to dithiothreitol	IDA IDA: Inferred from direct assay	19800881	GOA
involved in cellular response to mycotoxin	IDA IDA: Inferred from direct assay	12105227	GOA
involved in cellular response to xenobiotic stimulus	IDA IDA: Inferred from direct assay	19800881	GOA
involved in ceramide biosynthetic process	IDA IDA: Inferred from direct assay	12105227	GOA
involved in positive regulation of mitophagy	IDA IDA: Inferred from direct assay	22922758	GOA
involved in sphingolipid biosynthetic process	IDA IDA: Inferred from direct assay	12105227	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	17699106	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-126015	P053	Inhibitor	97.0%	Unkown
HY-120803	Mefluidide		99.81%	Unkown
HY-146910S	CER1 (d18:1/26:0/18:1)-d9		99.0%	Unkown
HY-176568	LCL768		/	Unkown
HY-N15835	CER1(d18:1/28:0/18:2)		/	Unkown
HY-RS02532	CER1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
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-175198	Cs-2d	Inhibitor	/	Unkown
HY-179832	CER1 (d18:1/26:0/18:1)		/	Unkown
HY-RS18128	Cer1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19995	Cers1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24602	Cer1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26499	Cers1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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