MTTP - microsomal triglyceride transfer protein Gene

Also Known as ABL; MTP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4547

About MTTP

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,564,130-99,623,997 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and is associated with 5 phenotypes. Biased expression in small intestine (RPKM 140.0), duodenum (RPKM 122.9) and 1 other tissue.

Summary

MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

MTTP Products (3)

mRNA	Protein	Name
NM_001300785.2	NP_001287714.2	microsomal triglyceride transfer protein large subunit isoform 2
NM_001386140.1	NP_001373069.1	microsomal triglyceride transfer protein large subunit isoform 1 precursor
NM_000253.4	NP_000244.2	microsomal triglyceride transfer protein large subunit isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ceramide 1-phosphate transfer activity	IDA IDA: Inferred from direct assay	23475612	GOA
enables cholesterol transfer activity	IDA IDA: Inferred from direct assay	15897609	GOA
enables cholesterol transfer activity	IMP IMP: Inferred from mutant phenotype	8876250	GOA
enables phosphatidylcholine transfer activity	IDA IDA: Inferred from direct assay	16478722	GOA
enables phosphatidylcholine transfer activity	IMP IMP: Inferred from mutant phenotype	8876250	GOA
enables phosphatidylethanolamine transfer activity	IDA IDA: Inferred from direct assay	15897609	GOA
enables phospholipid transfer activity	IDA IDA: Inferred from direct assay	23475612	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10946006	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	23475612	GOA
enables triglyceride transfer activity	IDA IDA: Inferred from direct assay	15897609	GOA
enables triglyceride transfer activity	IMP IMP: Inferred from mutant phenotype	8876250	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phospholipid transport	IDA IDA: Inferred from direct assay	23475612	GOA
involved in plasma lipoprotein particle assembly	IDA IDA: Inferred from direct assay	16478722	GOA
involved in plasma lipoprotein particle assembly	IMP IMP: Inferred from mutant phenotype	8876250	GOA
involved in protein secretion	IDA IDA: Inferred from direct assay	16478722	GOA
involved in protein secretion	IMP IMP: Inferred from mutant phenotype	8876250	GOA
involved in triglyceride transport	IDA IDA: Inferred from direct assay	22236406	GOA
involved in triglyceride transport	IMP IMP: Inferred from mutant phenotype	23749231	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16478722	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	16478722	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTTP Protein Structure

Vitellogenin_N

0
200
400
600
800
894 a.a.

Protein Preferred Names	Protein Names
microsomal triglyceride transfer protein large subunit	microsomal triglyceride transfer protein (large polypeptide, 88kDa)

MTTP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	MTTP	P55157	PDIA3	Chlorocebus aethiops	Q4VIT4	Anti Bait CoIP	10946006
Cross	MTTP	P55157	PDIA3	Chlorocebus aethiops	Q4VIT4	Confocal	27487388
Cross	MTTP	P55157	PDIA3	Chlorocebus aethiops	Q4VIT4	Anti Tag CoIP	27487388
Cross	MTTP	P55157	PDIA3	Chlorocebus aethiops	Q4VIT4	Confocal	26224785
Cross	MTTP	P55157	PDIA3	Chlorocebus aethiops	Q4VIT4	Anti Tag CoIP	26224785
Intra	MTTP	P55157	APOB	Homo sapiens	P04114	Anti Tag CoIP	27487388
Intra	MTTP	P55157	APOB	Homo sapiens	P04114	Anti Tag CoIP	26224785
Intra	MTTP	P55157	APOB	Homo sapiens	P04114	Anti Bait CoIP	27487388
Intra	MTTP	P55157	APOB	Homo sapiens	P04114	Anti Bait CoIP	26224785

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Retinal Degeneration	Degeneration Of Retina
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases Cardiovascular Disease
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Obesity , Susceptibility To Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Chylomicron Retention Disease	CMRD Anderson Disease Lipid Transport Defect Of Intestine Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells Andd Anderson Syndrome Crd Andersons Disease Malabsorption Syndrome
Hypobetalipoproteinemia, Familial, 1	Hypobetalipoproteinemia Familial Hypobetalipoproteinemia 1 Familial Hypobetalipoproteinemia FHBL1 Hypobetalipoproteinemia, Familial Fhbl Acanthocytosis With Hypobetalipoproteinemia Hypobetalipoproteinemias Hypobetalipoproteinemia, Normotriglyceridemic Hypo-Beta-Lipoproteinemia Hypobetalipoprotéinemia, Familial Normotriglyceridemic Hypobetalipoproteinemia Hypobetalipoproteinemia, Familial, Type 1
Hyperlipoproteinemia, Type I	Lipoprotein Lipase Deficiency Familial Chylomicronemia Syndrome Lpl Deficiency Hyperchylomicronemia, Familial Hyperlipemia, Idiopathic, Burger-Grutz Type Hyperlipemia, Essential Familial Lipase D Deficiency Lipd Deficiency Hyperlipoproteinemia, Type Ia Chylomicronemia, Familial High Density Lipoprotein Cholesterol Level Qtl 11 Hyperlipoproteinemia Type 1 Hyperlipoproteinemia 1 HLPP1 Lipoprotein Lipase Hyperlipoproteinemia Type I Familial Hyperchylomicronemia Syndrome
Coronary Heart Disease 1	Coronary Heart Disease Coronary Heart Disease, Susceptibility To, 1 Chds1 Coronary Heart Disease, Susceptibility To CHD Heart, Coronary, Disease, Susceptibility To, Type 1 Coronary Arteriosclerosis Coronary Artery Disease
Fatty Liver Disease	Alcoholic Fatty Liver Fatty Liver Fatty Liver, Alcoholic Fatty Change Of Liver Hepatic Lipidosis Steatosis Of Liver Fatty Liver Alcoholic Steatohepatitis Etoh Fatty Liver Etoh Fatty Liver Metamorphosis Fatty Etoh Liver Necrosis
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Arcus Corneae	Arcus Senilis Corneal Arcus Arcus Of Cornea
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Diabetes Mellitus	Diabetes
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Diabetes Mellitus, Non-Insulin-Dependent Type 2 Diabetes T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Familial Hyperlipidemia	Familial Hyperlipoproteinemia Hyperlipidaemia Hyperlipoproteinemias Hyperlipemia Hyperlipidemias Hyperlipidemia
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Autosomal Recessive Arh FHCL4 Autosomal Recessive Hypercholesterolemia Arh1 Arh2 Autosomal Recessive Hypercholesterolemia 1 Autosomal Recessive Hypercholesterolemia 2 Fhcb1 Fhcb2 Hypercholesterolemia, Autosomal Recessive, 1, Formerly Arh1, Formerly Fhcb1, Formerly Hypercholesterolemia, Autosomal Recessive, 2, Formerly Arh2, Formerly Fhcb2, Formerly Familial Autosomal Recessive Hypercholesterolemia Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, Type 4
Hypolipoproteinemia	Hypolipoproteinaemia Lipoprotein Deficiencies Lipoprotein Disorder Hypolipoproteinemias Lipoprotein Lipoprotein Deficiency Hypolipidaemia Lipoprotein Deficiency Disorder High-Density Lipoid Deficiency High-Density Lipoprotein Deficiency Dyslipidaemia, Depressed Hdl Cholesterol
Abetalipoproteinemia	Acanthocytosis ABL Bassen-Kornzweig Syndrome Mtp Deficiency Familial Hypobetalipoproteinemia Abetalipoproteinaemia Microsomal Triglyceride Transfer Protein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Disease Abetalipoproteinemia Neuropathy Bassen-Kornzweig Disease Apolipoprotein B Deficiency Betalipoprotein Deficiency Disease Congenital Betalipoprotein Deficiency Syndrome Homozygous Familial Hypobetalipoproteinemia Fhbl Bassen Kornzweig Syndrome Hypobetalipoproteinemia, Familial Hypobetalipoproteinemia Hypobetalipoproteinemias Hypobetalipoproteinemia, Familial, Apolipoprotein B
Abdominal Obesity-Metabolic Syndrome 1	Metabolic Syndrome X Metabolic Syndrome AOMS1 Dysmetabolic Syndrome X Metabolic Disease Abdominal Obesity Metabolic Syndrome
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Hypobetalipoproteinemia, Familial, 2	Familial Hypobetalipoproteinemia 2 FHBL2 Hypolipidemia, Familial, Combined Combined Familial Hypolipidemia Combined Hypobetalipoproteinemia Familial Hypobetalipoproteinemia, Familial, Type 2
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Sitosterolemia	Phytosterolemia Beta-Sitosterolemia Plant Sterol Storage Disease Phytosterolæmia Sitosterolæmia Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body Phytosterolaemia Sitosterolaemia Sitosterolemia With Xanthomatosis
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-50670	DGAT-1 inhibitor 2		95.33%	Unkown
HY-RS08822	MTTP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08823	Mttp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08824	Mttp Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MTTP	VGNC	VGNC:31754
Macaca mulatta	MTTP	VGNC	VGNC:75077
Rattus norvegicus	MTTP	RGD	RGD:1308388
Felis catus	MTTP	VGNC	VGNC:68352
Mus musculus	MTTP	MGD	MGI:106926
Canis familiaris	MTTP	VGNC	VGNC:43495
Others	MTTP	NCBI