Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	204219
Gene name	Ceramide synthase 3
Gene symbol	CERS3
Synonyms (NCBI Gene)	ARCI9LASS3
Chromosome	15
Chromosome location	15q26.3
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 synth

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776996	C>A	Pathogenic	Splice donor variant
rs762679102	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs1567644030	C>T	Pathogenic	Coding sequence variant, stop gained
rs1596772428	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (83)

miRTarBase ID	miRNA	Experiments
MIRT886964	hsa-miR-1207-5p	CLIP-seq
MIRT886965	hsa-miR-1227	CLIP-seq
MIRT886966	hsa-miR-1288	CLIP-seq
MIRT886967	hsa-miR-29a	CLIP-seq
MIRT886968	hsa-miR-29b	CLIP-seq
MIRT886969	hsa-miR-29c	CLIP-seq
MIRT886970	hsa-miR-3199	CLIP-seq
MIRT886971	hsa-miR-4311	CLIP-seq
MIRT886972	hsa-miR-4330	CLIP-seq
MIRT886973	hsa-miR-4514	CLIP-seq
MIRT886974	hsa-miR-4692	CLIP-seq
MIRT886975	hsa-miR-4712-3p	CLIP-seq
MIRT886976	hsa-miR-4715-3p	CLIP-seq
MIRT886977	hsa-miR-4736	CLIP-seq
MIRT886978	hsa-miR-4755-3p	CLIP-seq
MIRT886979	hsa-miR-4763-3p	CLIP-seq
MIRT886980	hsa-miR-548aa	CLIP-seq
MIRT886981	hsa-miR-548ac	CLIP-seq
MIRT886982	hsa-miR-548d-3p	CLIP-seq
MIRT886983	hsa-miR-548z	CLIP-seq
MIRT886984	hsa-miR-940	CLIP-seq
MIRT886964	hsa-miR-1207-5p	CLIP-seq
MIRT1963022	hsa-miR-1264	CLIP-seq
MIRT1963023	hsa-miR-150	CLIP-seq
MIRT1963024	hsa-miR-1827	CLIP-seq
MIRT1963025	hsa-miR-19a	CLIP-seq
MIRT1963026	hsa-miR-19b	CLIP-seq
MIRT1963027	hsa-miR-3612	CLIP-seq
MIRT1963028	hsa-miR-3667-3p	CLIP-seq
MIRT1963029	hsa-miR-4300	CLIP-seq
MIRT886979	hsa-miR-4763-3p	CLIP-seq
MIRT1963030	hsa-miR-650	CLIP-seq
MIRT1963031	hsa-miR-920	CLIP-seq
MIRT886984	hsa-miR-940	CLIP-seq
MIRT2199439	hsa-miR-10a	CLIP-seq
MIRT2199440	hsa-miR-10b	CLIP-seq
MIRT2199441	hsa-miR-1200	CLIP-seq
MIRT886964	hsa-miR-1207-5p	CLIP-seq
MIRT886965	hsa-miR-1227	CLIP-seq
MIRT2199442	hsa-miR-1253	CLIP-seq
MIRT2199443	hsa-miR-1266	CLIP-seq
MIRT2199444	hsa-miR-15a	CLIP-seq
MIRT2199445	hsa-miR-15b	CLIP-seq
MIRT2199446	hsa-miR-16	CLIP-seq
MIRT2199447	hsa-miR-195	CLIP-seq
MIRT1963025	hsa-miR-19a	CLIP-seq
MIRT1963026	hsa-miR-19b	CLIP-seq
MIRT2199448	hsa-miR-24	CLIP-seq
MIRT2199449	hsa-miR-3119	CLIP-seq
MIRT2199450	hsa-miR-3126-5p	CLIP-seq
MIRT2199451	hsa-miR-3127-5p	CLIP-seq
MIRT2199452	hsa-miR-3151	CLIP-seq
MIRT2199453	hsa-miR-342-5p	CLIP-seq
MIRT2199454	hsa-miR-3912	CLIP-seq
MIRT2199455	hsa-miR-3918	CLIP-seq
MIRT2199456	hsa-miR-3944-5p	CLIP-seq
MIRT2199457	hsa-miR-424	CLIP-seq
MIRT2199458	hsa-miR-4324	CLIP-seq
MIRT2199459	hsa-miR-4419a	CLIP-seq
MIRT2199460	hsa-miR-4434	CLIP-seq
MIRT2199461	hsa-miR-4436b-3p	CLIP-seq
MIRT2199462	hsa-miR-4437	CLIP-seq
MIRT2199463	hsa-miR-4447	CLIP-seq
MIRT2199464	hsa-miR-4472	CLIP-seq
MIRT2199465	hsa-miR-4510	CLIP-seq
MIRT2199466	hsa-miR-4516	CLIP-seq
MIRT2199467	hsa-miR-4518	CLIP-seq
MIRT2199468	hsa-miR-4651	CLIP-seq
MIRT2199469	hsa-miR-4664-5p	CLIP-seq
MIRT886975	hsa-miR-4712-3p	CLIP-seq
MIRT886977	hsa-miR-4736	CLIP-seq
MIRT886978	hsa-miR-4755-3p	CLIP-seq
MIRT886979	hsa-miR-4763-3p	CLIP-seq
MIRT2199470	hsa-miR-4768-3p	CLIP-seq
MIRT2199471	hsa-miR-491-5p	CLIP-seq
MIRT2199472	hsa-miR-497	CLIP-seq
MIRT2199473	hsa-miR-544b	CLIP-seq
MIRT2199474	hsa-miR-608	CLIP-seq
MIRT2199475	hsa-miR-622	CLIP-seq
MIRT2199476	hsa-miR-665	CLIP-seq
MIRT886984	hsa-miR-940	CLIP-seq
MIRT2427317	hsa-miR-375	CLIP-seq
MIRT2427318	hsa-miR-4727-5p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0030216	Process	Keratinocyte differentiation	IMP	23754960
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	17977534, 22038835
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	IMP	23754960
GO:0050291	Function	Sphingosine N-acyltransferase activity	IBA
GO:0050291	Function	Sphingosine N-acyltransferase activity	IDA	17977534, 22038835
GO:0050291	Function	Sphingosine N-acyltransferase activity	IEA
GO:0050291	Function	Sphingosine N-acyltransferase activity	TAS
GO:0070268	Process	Cornification	IEA
GO:0070268	Process	Cornification	ISS

MIM	HGNC	e!Ensembl
615276	23752	ENSG00000154227

Q8IU89

Protein name

Ceramide synthase 3 (CerS3) (Dihydroceramide synthase 3) (LAG1 longevity assurance homolog 3) (Sphingosine N-acyltransferase CERS3) (EC 2.3.1.24) (Ultra-long-chain ceramide synthase CERS3) (EC 2.3.1.298) (Very-long-chain ceramide synthase CERS3) (EC 2.3.1

Protein function

Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very- and ultra-long-chain fatty acyl-CoA (chain length greater than C22) (PubMed:17977534, PubMed:22038835, PubMed:2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	71 → 126	Homeodomain	Domain
PF03798	TRAM_LAG1_CLN8	131 → 324	TLC domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level). {ECO:0000269|PubMed:23754960}.

Sequence

MFWTFKEWFWLERFWLPPTIKWSDLEDHDGLVFVKPSHLYVTIPYAFLLLIIRRVFEKFV
ASPLAKSFGIKETVRKVTPNTVLENFFKHSTRQPLQTDIYGLAKKCNLTERQVERWFRSR
RNQERPSRLKKFQEACWRFAFYLMITVAGIAFLYDKPWLYDLWEVWNGYPKQPLLPSQYW
YYILEMSFYWSLLFRLGFDVKRKDFLAHIIHHLAAISLMSFSWCANYIRSGTLVMIVHDV
ADIWLESAKMFSYAGWTQTCNTLFFIFSTIFFISRLIVFPFWILYCTLILPMYHLEPFFS
YIFLNLQLMILQVLHLYWGYYILKMLNRCIFMKSIQDVRSDDEDYEEEEEEEEEEATKGK
EMDCLKNGLRAERHLIPNGQHGH

Sequence length

383

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skin	Likely pathogenic	rs1256164950, rs747911784	RCV001814463 RCV001814456
Autosomal recessive congenital ichthyosis 9	Likely pathogenic; Pathogenic	rs747911784, rs2549119804, rs1567644030, rs587776996, rs762679102, rs1596772428	RCV005005254 RCV003490905 RCV000782388 RCV000049259 RCV000054808 RCV000991456
Ichthyosis	Likely pathogenic	rs587776996	RCV004798762
Lamellar ichthyosis	Pathogenic	rs752230253	RCV003123559

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CERS3-related disorder	Likely benign; Benign	rs149637953, rs2549144746, rs146792407, rs148139207, rs139946861	RCV003894077 RCV003899753 RCV003939293 RCV003925998 RCV003910831
Cervical cancer	Benign	rs73472039	RCV005918012
Malignant tumor of esophagus	Benign	rs73472039	RCV005918011
Prostate cancer	Uncertain significance	rs193921020	RCV000149378

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Blood Coagulation Disorders Inherited	Associate	39501396
Carcinoma Hepatocellular	Associate	21998744
Ichthyosis	Associate	28875980, 33492757, 34983512
Lamellar ichthyosis type 3	Associate	28875980, 33492757
Metabolic Syndrome	Associate	36011408
Neoplasms	Associate	21998744

CERS3 (ceramide synthase 3)