Keramidisyntaasit 1-6 , CERS1- CERS6

CERS1(19p13.11) , EPM8, GDF1, LAG1, UOG1, GDF-1, LASS1.

Tämä  entsyymi tuottaa C18-keramideja  aivojen neuroneissa. Jos  geenin ilmentymä on koholla se merkitse  neuronin  pitkäikäisyyttä, kuntaas  alentunut ilmenemä assosioituu  myoklooniseen epilepsiaan.  ja dementiaan ihmisessä.

https://www.ncbi.nlm.nih.gov/gene/10715

Official Symbol

CERS1

Official Full Name

ceramide synthase 1

Also known as

EPM8; GDF1; LAG1; UOG1; GDF-1; LASS1

Summary

This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]

Expression

Biased expression in brain (RPKM 22.5) and testis (RPKM 5.1).

Preferred Names

ceramide synthase 1

Names

Embryonic growth/differentiation factor 1; (EPM8)

longevity assurance (LAG1, S. cerevisiae) homolog 1

longevity assurance gene 1 protein homolog 1 (LASS1)

protein UOG-1

upstream of GDF1; (UOG1)

CERS2  (1q21.3), TMSG1 (  Tuumormetastasis-suppressor gene 1 protein )

https://www.ncbi.nlm.nih.gov/gene/29956

Also known as

L3; LASS2; SP260; TMSG1

Summary

This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

Expression

Ubiquitous expression in liver (RPKM 113.9), adrenal (RPKM 85.4) and 25 other tissues See more

Preferred Names

ceramide synthase 2

Names

LAG1 homolog, ceramide synthase 2

LAG1 longevity assurance 2

longevity assurance (LAG1, S. cerevisiae) homolog 2

sphingosine N-acyltransferase CERS2

tumor metastasis-suppressor gene 1 protein

( 299-309 aminohapot : FFGYYFFNSMM

ff
      301 gyyffnsmm) 

CERS3 (5q21.3), 

 https://www.ncbi.nlm.nih.gov/gene/204219

Also known as

ARCI9; LASS3

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]

Expression

Biased expression in skin (RPKM 15.5), esophagus (RPKM 13.5) and 1 other tissue See more

Preferred Names

ceramide synthase 3

Names

LAG1 homolog, ceramide synthase 3

LAG1 longevity assurance homolog 3

dihydroceramide synthase 3

sphingosine N-acyltransferase CERS3

NM_001290341.2 → NP_001277270.1  ceramide synthase 3 isoform 1

CERS4 (19p13.2),

 https://www.ncbi.nlm.nih.gov/gene/79603

Also known as

Trh1; LASS4

Expression

Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.3) and 24 other tissues See more

Orthologs

mouse all

CERS5 (12q13.12),

 https://www.ncbi.nlm.nih.gov/gene/91012

Also known as

Trh4; LASS5

Summary

This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Expression

Ubiquitous expression in endometrium (RPKM 6.0), placenta (RPKM 5.6) and 25 other tissues See more

Preferred Names

ceramide synthase 5

Names

LAG1 homolog, ceramide synthase 5

LAG1 longevity assurance homolog 5

TRAM homolog 4

sphingosine N-acyltransferase CERS5

 NM_001281731.1 → NP_001268660.1  ceramide synthase 5 isoform 2

J Biol Chem. 2008 Sep 26;283(39):26509-17. doi: 10.1074/jbc.M801597200. Epub 2008 Aug 1.

Ceramide generated by sphingomyelin hydrolysis and the salvage pathway is involved in hypoxia/reoxygenation-induced Bax redistribution to mitochondria in NT-2 cells.

Jin J¹, Hou Q, Mullen TD,et al.

CERS6 (2q24.3),

 https://www.ncbi.nlm.nih.gov/gene/253782

Also known as

CERS5; LASS6

Expression

Ubiquitous expression in colon (RPKM 18.1), thyroid (RPKM 16.4) and 25 other tissues See more

Preferred Names

ceramide synthase 6

Names

LAG1 homolog, ceramide synthase 6

longevity assurance homolog 6

NM_001256126.2 → NP_001243055.1  ceramide synthase 6 isoform 1.

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?Trends Biochem. Sci. 2002 Aug ; 27(8):381-3

The human CERS6 gene promoter harbors a large CpG island (94 CpGs) and multiple transcription factor binding sites (TFBS), which support precise transcriptional regulation and signaling functions

Additional regulation is conferred by 15 microRNA
            (miRNA) target sites identified in the CERS6 3'-UTR region
            Publication Status: Online-Only

 JOURNAL   FASEB J. 24 (1), 296-308 (2010)
   PUBMED   19723703
  REMARK    GeneRIF: Mechanistically, regulation of ER-stress-induced apoptosis
            by CerS6/C(16)-ceramide was linked to the activation of a specific
            arm, ATF6/CHOP, of the unfolded protein response pathway.

 https://www.ncbi.nlm.nih.gov/pubmed/26887952