CERS3 - ceramide synthase 3 Gene

Homo sapiens

Also known as ARCI9; LASS3

Gene ID: 204219 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (2)

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 Sets	/	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

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