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FLASH GENE

Symbol

CERS3

contributors: mct - updated : 28-09-2016

HGNC name	ceramide synthase 3
HGNC id	23752

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARCI9 Ichthyosis, congenital, autosomal recessive 9
Location	15q26.3      Physical location : -
Synonym name	longevity assurance homolog 3 (S. cerevisiae)
	LAG1 homolog, ceramide synthase 3
	LAG1 longevity assurance homolog 3
	dihydroceramide synthase 3
Synonym symbol(s)	MGC27091, LASS3, ARCI9
EC.number	2.3.1.24

DNA

TYPE	functioning gene
STRUCTURE	144.32 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_178842 13 - 3894 NP_849164 - 383 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus           mouth         Endocrine parathyroid         Reproductive male system testis     highly Respiratory respiratory tract larynx       Skin/Tegument skin

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one homeobox DNA-binding domain
	one TLC (TRAM/LAG1/CLN8) domain

HOMOLOGY

interspecies

homolog to murine Lass3 (78.8pc)

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
text	nuclear membrane
	located at the ER

basic FUNCTION	may be involved in sphingolipid synthesis or its regulation
	regulates synthesis of a specific subset of ceramides and displays a unique substrate specificity profile for chain length and/or saturation in fatty acid acyl-CoA
	possesses (dihydro)ceramide synthesis activity with relatively broad substrate specificity
	plays an important role in the testis
	is the only mammalian CERS capable of converting ULC-acyl-CoAs into CERS
	determines the quality of water permeability barrier and anti-microbial function as well as final cornification

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

lipid biosynthesis

a component

INTERACTION

DNA

RNA

small molecule

protein

phosphorylation of ceramide synthases(CERS2, CERS3, CERS4, CERS5, CERS6) may be a key regulatory point in the control of the distribution and levels of sphingolipids of various acyl-chain lengths

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARCI9

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS