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FLASH GENE

Symbol

APOC3

contributors: mct - updated : 21-03-3012

HGNC name	apolipoprotein C-III
HGNC id	610

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	APOC3 hyperalphalipoproteinemia with APOC3 deficiency
Location	11q23.3      Physical location : 116.700.623 - 116.703.787
Synonym symbol(s)	MGC150353, APOCIII, HALP2

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	3.16 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - DRD2 - D11S386 - ZBTB16 - D11S938 ,D11S1327 - D11S486 - D11S1256 - D11S144 - D11S1340 , APOC3 APOC3 - D11S943E - D11S939 - D11S29 - D11S1356 - D11S1341 - CD3D - MLL - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000040 4 - 533 NP_000031 8.76 99 - 2008 19074352

EXPRESSION

Type

constitutive of

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 liver       highly Lymphoid/Immune spleen       highly Reproductive female system uterus cervix   moderately Visual eye anterior segment cornea   lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   lowly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Apoc3 (62.89 pc)

Homologene

FAMILY

apolipoprotein C3 family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	inhibiting lipoprotein lipase and hepatic lipase and decreasing the uptake of lymph chylomicrons by hepatic cells
	contributor to HDL variation
	directly activates human monocytes, at least partly through a TLR2-dependent pathway
	lipoprotein lipase inhibitor and a key regulator of the metabolism of triglyceride-rich lipoproteins, that is mainly synthesized in liver and intestine
	may play a specific role in lipid storage and mobilization in adipocytes, non-lipoprotein-secreting cells
	central role in metabolic defects leading to hypertriglyceridemia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	RXRA solely regulates APOC3 gene expression
	PPARGC1B regulates plasma triglyceride metabolism through stimulating apolipoprotein C3 (APOC3) expression and elevating APOC3 levels in circulation
	MDM2 is a novel activator of APOC3 promoter which is antagonized by TP53 and NR0B2 inhibition

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

APOC3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       null mutation confers a favorable lipid profile and apparent cardioprotection and does not result in any obvious detrimental effect (Pollin 2008) constitutional     --over   increased in type 1 diabetic patients

Susceptibility

to higher triglyceride dosage and to low HDL-cholesterol to type 1 diabetes to acute myocardial infarction in diabetic patients

Variant & Polymorphism SNP , other	C1100T increase HDL and protecting against coronary artery disease
	haplotype increasing thre risk of type 1 diabetes
	association of polymorphism with acute myocardial infarction in diabetic patients

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular atheroma cardiac therapies aimed specifically at down-regulating APOC3 expression will be clinically efficacious and safe in reducing the morbidity and mortality associated with coronary artery disease diabete type 1   target for the treatment of type 1 diabetes

ANIMAL & CELL MODELS