CERS3 - ceramide synthase 3 Gene

Also Known as ARCI9; LASS3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 204219

About CERS3

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:100,400,395-100,544,683 (from NCBI)

This gene has 9 transcripts (splice variants), 254 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 15.5), esophagus (RPKM 13.5) and 1 other tissue.

Summary

This gene is a member of the ceramide synthase family of genes. The ceramide synthase Enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

CERS3 Products (5)

mRNA	Protein	Name
NM_001290341.2	NP_001277270.1	ceramide synthase 3 isoform 1
NM_001290342.2	NP_001277271.1	ceramide synthase 3 isoform 2
NM_001290343.2	NP_001277272.1	ceramide synthase 3 isoform 2
NM_001378789.1	NP_001365718.1	ceramide synthase 3 isoform 2
NM_178842.5	NP_849164.2	ceramide synthase 3 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sphingosine N-acyltransferase activity	IDA IDA: Inferred from direct assay	17977534	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ceramide biosynthetic process	IDA IDA: Inferred from direct assay	17977534	GOA
involved in ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	23754960	GOA
involved in keratinocyte differentiation	IMP IMP: Inferred from mutant phenotype	23754960	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

CERS3 Protein Structure

Homeobox

TRAM_LAG1_CLN8

0
100
200
300
383 a.a.

Protein Preferred Names	Protein Names
ceramide synthase 3	LAG1 homolog, ceramide synthase 3

CERS3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CERS3	Q8IU89	SLC39A9	Homo sapiens	Q9NUM3	Validated Y2H	32296183
Intra	CERS3	Q8IU89	q96fb2_human	Homo sapiens	Q96FB2	Validated Y2H	32296183
Intra	CERS3	Q8IU89	PCBD2	Homo sapiens	Q9H0N5	Validated Y2H	32296183
Intra	CERS3	Q8IU89	NEU1	Homo sapiens	Q99519	Validated Y2H	32296183
Intra	CERS3	Q8IU89	ORMDL3	Homo sapiens	Q8N138	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ichthyosis, Congenital, Autosomal Recessive 9	Autosomal Recessive Congenital Ichthyosis 9 ARCI9 Ichthyosis, Congenital, Autosomal Recessive, Type 9
Autosomal Recessive Congenital Ichthyosis	Lamellar Ichthyosis Congenital Ichthyosiform Erythroderma Li Congenital Nonbullous Ichthyosiform Erythroderma Arci Congenital Lamellar Ichthyosis Nonbullous Congenital Ichthyosiform Erythroderma Cie Congenital Non-Bullous Ichthyosiform Erythroderma Erythrodermic Ichthyosis Nbcie Ncie Non-Bullous Congenital Ichthyosiform Erythroderma Collodion Baby Ichthyosis, Lamellar Non Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form Ichthyosiform Erythroderma, Congenital, Nonbullous, 1 Collodion Baby Syndrome Ichthyoses, Lamellar Nbie Nonbullous Ichthyosiform Erythroderma Classic Lamellar Ichthyosis Ichthyosiform Erythroderma Nonbullous Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Congenital, Autosomal Recessive Ichthyosiform Erythroderma, Congenital Collodion Fetus Non-Bullous Ichthyosiform Erythroderma
Weill-Marchesani Syndrome 4	Weill-Marchesani-Like Syndrome Weill-Marchesani 4 Syndrome, Recessive WMS4 Wmsl Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome 15q26.3 Microdeletion Syndrome
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Kid Syndrome Keratitis-Ichthyosis-Deafness Syndrome Senter Syndrome KIDAD Kid Syndrome, Autosomal Dominant Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome Ichthyosis Hystrix Rheydt Type Kid/Hid Syndrome Keratitis-Ichthyosis-Deafness/Hystrix-Like Ichthyosis-Deafness Syndrome Keratitis Ichthyosis And Deafness Syndrome Autosomal Dominant Kid Syndrome Keratitis, Ichthyosis, And Deafness Syndrome Ichthyosiform Erythroderma, Corneal Involvement, And Deafness Keratitis, Ichthyosis, And Deafness Keratitis-Ichthyosis-Hearing Loss/Hystrix-Like Ichthyosis-Hearing Loss Syndrome
Nephrotic Syndrome, Type 14	Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic Syndrome 14 NPHS14 Splis Nephrotic Syndrome Type 14 Sgpl1 Deficiency Steroid-Resistant Nephrotic Syndrome Type 14 Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Ichthyosis, Congenital, Autosomal Recessive 7	ARCI7 Autosomal Recessive Congenital Ichthyosis 7
Ichthyosis, Congenital, Autosomal Recessive 4b	Harlequin Ichthyosis Autosomal Recessive Congenital Ichthyosis 4b Hi Harlequin Fetus ARCI4B Ichthyosis Congenita, Harlequin Fetus Type Harlequin Type Ichthyosis 'Harlequin Fetus' Harlequin Type Ichthyosis Congenita Harlequin Type Ichthyosis Fetalis Harlequin Baby Syndrome Ichthyosis Congenita, Harlequin Type Ichthyosis Fetalis, Harlequin Type Ichthyosis Congenita Harlequin Fetus Type Ichthyosis, Harlequin Ichthyosis, Congenital, Autosomal Recessive, Type 4b
Ichthyosis, Congenital, Autosomal Recessive 1	Collodion Fetus Autosomal Recessive Congenital Ichthyosis 1 ARCI1 Ichthyosis Congenita Lamellar Exfoliation Of Newborn Desquamation Of Newborn Ichthyosis Congenita Ii Shcb Icr2 Bathing Suit Ichthyosis Li1 Self-Healing Collodion Baby Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution Collodion Baby, Self-Healing Ichthyosis, Lamellar, 1, Formerly Li1, Formerly Ichthyosis Lamellar 1 Lamellar Ichthyosis, Type 1 Bsi Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution Autosomal Recessive Congenital Ichthyosis Tgm1-Related Lamellar Ichthyosis 1 Non-Erythrodermic Ichthyosis Ichthyosis, Congenital, Autosomal Recessive, Type 1 Congenital Ichthyosis
Spastic Paraplegia 46, Autosomal Recessive	SPG46 Hereditary Spastic Paraplegia 46 Autosomal Recessive Spastic Paraplegia Type 46 Autosomal Recessive Spastic Paraplegia 46 Paraplegia, Spastic, Type 46, Autosomal Recessive
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Punctate Palmoplantar Keratoderma	Punctate Palmoplantar Hyperkeratosis Punctate Keratosis Palmoplantaris Punctate Ppk
Myoclonic Epilepsy, Juvenile 3	Myoclonic Epilepsy, Juvenile, Susceptibility To, 3 EJM3 Epilepsy, Juvenile Myoclonic 3 Juvenile Myoclonic Epilepsy 3
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]
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Eyelid Disease	Eyelid Diseases Eyelid Disorders
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dorfman-Chanarin Syndrome Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-146831S	CER3-d9		99.00%	Unkown
HY-RS02538	CERS3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-146831S1	CER3-d3		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CERS3	RGD	RGD:1564356
Mus musculus	CERS3	MGD	MGI:2681008
Bos taurus	CERS3	VGNC	VGNC:27225
Felis catus	CERS3	VGNC	VGNC:60793
Macaca mulatta	CERS3	VGNC	VGNC:71079
Canis familiaris	CERS3	VGNC	VGNC:39149
Others	CERS3	NCBI