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FLASH GENE

Symbol

MTTP

contributors: mct - updated : 12-03-2016

HGNC name	microsomal triglyceride transfer protein (large polypeptide, 88kDa)
HGNC id	7467

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ABLP abetalipoproteinemia
Location	4q24      Physical location : 100.485.239 - 100.545.153
Synonym name	microsomal triglyceride transfer protein (large polypeptide, 88kD)
Synonym symbol(s)	MTP, ABL, MGC149819, MGC149820

DNA

TYPE	functioning gene
STRUCTURE	59.91 kb     18 Exon(s)

regulatory sequence	Promoter
	Binding site
text structure	polymorphism -164T>C mediates different activities of common MTTP promoter haplotypes via SREBF1A

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000253 19 - 4093 NP_000244 - 894 - -

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           intestine small intestine         liver         Reproductive male system testis       Urinary kidney         Visual eye retina

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

large 97kDa subunit

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	microsomal triglyceride transfer protein, playing a central role in lipoprotein and chylomicrons assembly
	catalyzing the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces
	required for the secretion of plasma lipoproteins that contain APOB
	regulating CD1D function in the endoplasmic reticulum
	required for the assembly and secretion of apolipoprotein B (apoB)-containing lipoproteins from the intestine and liver
	is a unique regulator of human metabolic and immune pathways
	its expression requires hepatic nuclear factor HNF4A transcription factor
	CLOCK, MTTP, and NOCT are involved in the circadian regulation of intestinal lipid absorption
	is a cellular lipid transfer protein that differs from those present in the blood
	may likely play a role in the control of walking, voluntary movement, and speaking

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

dimerizing with disulfide isomerase (PDI), involved in the assembly and secretion of APOB-containing lipoproteins

INTERACTION

DNA

RNA

small molecule

protein	NR2F1 and ERN2 suppress MTTP expression and lipoprotein assembly in undifferentiated intestinal epithelial cell
	regulate the CD1 family of lipid antigen-presenting molecules
	NR2F1 suppresses synergistic activation of the MTTP promoter by HNF4A/HNF1A by binding to a direct repeat 1 (DR1) element
	APOA4 modulates diurnal changes in lipid absorption by regulating forkhead transcription factors and MTTP and inhibition of APOA4 expression might reduce plasma lipids
	MTTP prevents APOB degradation and favors its assembly into lipoproteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ABLP

related resource

MITOP database

Susceptibility

for higher levels of triglycerides, and LDL cholesterol APOB susceptibility to osteoporosis to type 2 diabetes

Variant & Polymorphism SNP , other	polymorphism 493TT increasing the BMD in premenopausal women
	variant(rare alleles) associated with higher levels of triglycerides and APOB
	rare allele I128T polymorphism may be protective against impaired glucose tolerance, type 2 diabetes and other parameters of the metabolic syndrome

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   critical target for the prevention and treatment of nonalcoholic steatohepatitis

ANIMAL & CELL MODELS