CERS3 (ceramide synthase 3)

Gene

• Entrez ID: 204219
• Gene name: Ceramide synthase 3
• Gene symbol: CERS3
• Synonyms: ARCI9, LASS3
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0008544	Process	Epidermis development	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016410	Function	N-acyltransferase activity	IBA	21873635
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0030216	Process	Keratinocyte differentiation	IMP	23754960
GO:0046513	Process	Ceramide biosynthetic process	IBA	21873635
GO:0046513	Process	Ceramide biosynthetic process	IDA	17977534, 22038835
GO:0046513	Process	Ceramide biosynthetic process	IMP	23754960
GO:0050291	Function	Sphingosine N-acyltransferase activity	IBA	21873635
GO:0050291	Function	Sphingosine N-acyltransferase activity	IDA	17977534, 22038835
GO:0070268	Process	Cornification	ISS

Other IDs

• MIM: 615276
• HGNC: 23752
• e!Ensembl: ENSG00000154227

Protein

• UniProt ID: 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

• Sequence:

  MFWTFKEWFWLERFWLPPTIKWSDLEDHDGLVFVKPSHLYVTIPYAFLLLIIRRVFEKFV
  ASPLAKSFGIKETVRKVTPNTVLENFFKHSTRQPLQTDIYGLAKKCNLTERQVERWFRSR
  RNQERPSRLKKFQEACWRFAFYLMITVAGIAFLYDKPWLYDLWEVWNGYPKQPLLPSQYW
  YYILEMSFYWSLLFRLGFDVKRKDFLAHIIHHLAAISLMSFSWCANYIRSGTLVMIVHDV
  ADIWLESAKMFSYAGWTQTCNTLFFIFSTIFFISRLIVFPFWILYCTLILPMYHLEPFFS
  YIFLNLQLMILQVLHLYWGYYILKMLNRCIFMKSIQDVRSDDEDYEEEEEEEEEEATKGK
  EMDCLKNGLRAERHLIPNGQHGH

• Sequence length: 383

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway

Reactome:

Sphingolipid de novo biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis with hypotrichosis	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs530109812, rs774363396, rs760309815, rs140526640, rs1303127476	23549421, 23754960
Keratitis	Keratitis	rs587776571
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561
Weill-marchesani syndrome	Weill-Marchesani-Like Syndrome	rs121434357, rs431825170, rs387906266, rs121434359, rs267606636, rs267606637, rs387906291, rs267606638, rs749116256, rs1555396783, rs137854856, rs267606798, rs727503056, rs1555501030, rs1160509052, rs363806, rs2043337073	23754960

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Congenital nonbullous ichthyosiform erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma, Congenital non-bullous ichthyosiform erythroderma		23549421
Corneal erosion	Corneal erosion
Dwarfism	Dwarfism
Ectropion	Ectropion
Exfoliative dermatitis	Exfoliative dermatitis
Hypohidrosis	Hypohidrosis
Ichthyosis congenita	Ichthyosiform Erythroderma, Congenital
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome