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CERS3
Identifiers
Aliases	CERS3, ARCI9, LASS3, ceramide synthase 3
External IDs	OMIM: 615276; MGI: 2681008; HomoloGene: 18719; GeneCards: CERS3; OMA:CERS3 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) Band 15q26.3 Start 100,400,395 bp End 100,544,995 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 C Start 66,393,252 bp End 66,473,439 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of abdomen skin of leg gums oral cavity gingival epithelium vulva skin of thigh buccal mucosa cell human penis vagina Top expressed in spermatocyte transitional epithelium of urinary bladder esophagus seminiferous tubule spermatid conjunctival fornix skin of back skin of abdomen skin of external ear lip More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity DNA binding sphingosine N-acyltransferase activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component integral component of membrane nuclear membrane endoplasmic reticulum membrane nucleus membrane endoplasmic reticulum Biological process ceramide biosynthetic process sphingolipid biosynthetic process keratinocyte differentiation lipid metabolism regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 204219 545975 Ensembl ENSG00000154227 ENSMUSG00000030510 UniProt Q8IU89 Q1A3B0 RefSeq (mRNA) NM_001290341 NM_001290342 NM_001290343 NM_178842 NM_001378789 NM_001164201 RefSeq (protein) NP_001277270 NP_001277271 NP_001277272 NP_849164 NP_001365718 NP_001157673 Location (UCSC) Chr 15: 100.4 – 100.54 Mb Chr 7: 66.39 – 66.47 Mb PubMed search
Wikidata
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Ceramide synthase 3 (CersS3), also known as longevity assurance homologue 3, is an enzyme that is encoded in humans by the CERS3 gene.

Function

CerS3 synthesizes C24-ceramides and ceramides with longer acyl chains, and is found mainly in skin and testis. Specifically, CerS3 synthesizes ceramides containing α-hydroxy (2-hydroxy) fatty acids, which are abundant in skin tissue, where they help maintain the water permeability barrier qualities of the skin. It is found in large quantities in keratinocytes, and this increases during keratinocyte differentiation.

In the testes, CerS3 is involved in sperm formation and androgen production. Cers3 gene expression is located within germ cells, where it is massively upregulated during juvenile testicular maturation. This upregulation is correlated with increase in levels of glycosphingolipids containing very long chain (C26-C32) polyunsaturated fatty acid (LC-PUFA), which are required for spermatogenesis.

Tissue and cellular distribution

CerS3 (T3l) mRNA is strongly expressed in skin, and was also found in brain, lung and kidney. CerS3 is mainly found in the skin and testes. CerS3 is not detectable in the brain or the sciatic nerve. Like other ceramide synthases, CerS3 is found in the endoplasmic reticulum within the cell.

Structure

CerS3 has a molecular mass of 46.2 kDa, 383 amino acids, and six transmembrane domains. Like other ceramide synthases, CerS3 contains a Hox-like domain. CerS3 is the only ceramide synthase for which splice variants have not been reported.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000154227 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000030510 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Mizutani Y, Kihara A, Igarashi Y (2006). "LASS3 (longevity assurance homologue 3) is a mainly testis-specific (dihydro)ceramide synthase with relatively broad substrate specificity". Biochem. J. 398 (3): 531–8. doi:10.1042/BJ20060379. PMC 1559458. PMID 16753040.
6. Han X, Gross RW (2005). "Shotgun lipidomics: electrospray ionization mass spectrometric analysis and quantitation of cellular lipidomes directly from crude extracts of biological samples". Mass Spectrom Rev. 24 (3): 367–412. Bibcode:2005MSRv...24..367H. doi:10.1002/mas.20023. PMID 15389848.
7. Mizutani Y, Kihara A, Chiba H, Tojo H, Igarashi Y (2008). "2-Hydroxy-ceramide synthesis by ceramide synthase family: enzymatic basis for the preference of FA chain length". J. Lipid Res. 49 (11): 2356–64. doi:10.1194/jlr.M800158-JLR200. PMID 18541923.
8. Rabionet M, van der Spoel AC, Chuang CC, von Tümpling-Radosta B, Litjens M, Bouwmeester D, Hellbusch CC, Körner C, Wiegandt H, Gorgas K, Platt FM, Gröne HJ, Sandhoff R (2008). "Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3". J. Biol. Chem. 283 (19): 13357–69. doi:10.1074/jbc.M800870200. PMC 2442322. PMID 18308723.
9. Riebeling C, Allegood JC, Wang E, Merrill AH Jr, Futerman AH (Oct 2003). "Two mammalian longevity assurance gene (LAG1) family members, trh1 and trh4, regulate dihydroceramide synthesis using different fatty acyl-CoA donors". J Biol Chem. 278 (44): 43452–9. doi:10.1074/jbc.M307104200. PMID 12912983.
10. Becker I, Wang-Eckhardt L, Yaghootfam A, Gieselmann V, Eckhardt M (2008). "Differential expression of (dihydro)ceramide synthases in mouse brain: oligodendrocyte-specific expression of CerS2/Lass2". Histochem. Cell Biol. 129 (2): 233–41. doi:10.1007/s00418-007-0344-0. PMID 17901973. S2CID 2595275.
11. ^ Mullen TD, Hannun YA, Obeid LM (2012). "Ceramide synthases at the centre of sphingolipid metabolism and biology". Biochem. J. 441 (3): 789–802. doi:10.1042/BJ20111626. PMC 3689921. PMID 22248339.
12. Levy M, Futerman AH (2010). "Mammalian ceramide synthases". IUBMB Life. 62 (5): 347–56. doi:10.1002/iub.319. PMC 2858252. PMID 20222015.

• Biology

• Genes on human chromosome 15
• EC 2.3.1
• Integral membrane proteins