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FLASH GENE

Symbol

ELOVL5

contributors: mct - updated : 16-12-2021

HGNC name	ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
HGNC id	21308

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA38 spinocerebellar ataxia-38
Location	6p12.1      Physical location : 53.132.195 - 53.213.942
Synonym name	3-keto acyl-CoA synthase ELOVL5
	ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)
	elongation of very long chain fatty acids protein 5
	fatty acid elongase 1
	homolog of yeast long chain polyunsaturated fatty acid elongatio
	homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2
Synonym symbol(s)	RP3-483K16.1, DJ483K16.1, HELO1
EC.number	2.3.1.199

DNA

TYPE	functioning gene
STRUCTURE	81.78 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	two new SREBP binding sites, one in the 10 kb upstream region and one in the exon 1

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D6S1714 - D6S1956 - ELOVL5 - D6S1623 - D6S1960 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021814 8 splicing 3038 NP_068586 - 299 - 2000 10970790 NM_001242830 7 splicing 2913 NP_001229759 - 262 - 2000 10970790 NM_001242828 9 splicing 3119 NP_001229757 - 326 - 2000 10970790 NM_001242831 3 splicing 849 NP_001229760 - 88 - 2000 10970790

EXPRESSION

Type	ubiquitous

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 blood / hematopoietic thymus       highly Digestive mouth       highly Nervous brain hindbrain cerebellum   predominantly Homo sapiens   nerve       predominantly Homo sapiens Reproductive male system testis     highly Respiratory lung       predominantly Homo sapiens Urinary bladder       highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Homo sapiens Nervous oligodendrocyte Homo sapiens Nervous Purkinje cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	single histidine rich domain
	six transmembrane spanning domains

HOMOLOGY

interspecies	ortholog to Elovl5, Rattus norvegicus
	ortholog to Elovl5, Mus musculus
	ortholog to elovl5, Danio rerio

Homologene

FAMILY

multigenic family of genes encoding elongase

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	in the endoplasmic reticulum

basic FUNCTION	involved in the biosynthesis of very long chain fatty acids and in the pathogenesis of macular degeneration
	implicated in the elongation of long chain fatty acids, including docosahexanoic acid (DHA), which constitutes 50p100 of the fatty acids of the outer segment of the photoreceptor
	elongase involved in the synthesis of polyunsaturated fatty acids of the omega3 and omega6 series
	is involved in the determination of embryonic lipid content and composition 33525659)
	enzyme that elongates long chain fatty acids, with a marked preference for polyunsaturated molecules
	it plays an essential role in the elongation of omega-3 and omega-6 fatty acids, precursors for long-chain polyunsaturated fatty acids (PUFAs)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

ELOVL5 is an SREBF1 target gene and an important component of the negative feedback loop of de novo lipogenesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCA38

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function   fusion       fused with MLL in acute myelogemous leukemia tumoral     --over   in mesenchymal-type gastric cancer cells (GCs), leading to ferroptosis sensitization

Susceptibility

Variant & Polymorphism	rs735860 associated with primary open-angle glaucoma (

Candidate gene
Marker	epigenetic biomarker for the risk of type 2 diabetes mellitus
Therapy target

ANIMAL & CELL MODELS

Elovl5 expression was increased in cellular and mouse models of induced obesity-related diabetes