Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4547
Gene name Gene Name - the full gene name approved by the HGNC.	Microsomal triglyceride transfer protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTTP
Synonyms (NCBI Gene) Gene synonyms aliases	ABL, MTP
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ABL
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q23
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61733140	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61750974	G>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs79023226	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs113337987	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs115222767	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs144590904	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144600401	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146064714	G>T	Pathogenic	Stop gained, coding sequence variant
rs199422219	C>T	Pathogenic	Coding sequence variant, stop gained
rs199422220	G>A	Pathogenic	Coding sequence variant, missense variant
rs199422221	A>T	Pathogenic	Coding sequence variant, missense variant
rs199422222	G>T	Pathogenic	Coding sequence variant, missense variant
rs755681036	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs760547155	A>G	Likely-pathogenic	Splice acceptor variant
rs764189338	G>A	Pathogenic	Splice donor variant
rs767833468	G>A	Pathogenic	Coding sequence variant, missense variant
rs772602972	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1553926818	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553927840	A>G	Likely-pathogenic	Splice acceptor variant
rs1560614154	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560614646	A>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1560621444	G>A	Pathogenic	Splice acceptor variant
rs1560621495	T>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054897	hsa-miR-30e-5p	Luciferase reporter assay	25305447
MIRT054897	hsa-miR-30e-5p	Luciferase reporter assay	25305447
MIRT437433	hsa-miR-30c-5p	Luciferase reporter assay	24007526
MIRT437433	hsa-miR-30c-5p	Luciferase reporter assay	24007526
MIRT437433	hsa-miR-30c-5p	Luciferase reporter assay	24007526
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165607	hsa-miR-550b	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165607	hsa-miR-550b	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT1165604	hsa-miR-1200	CLIP-seq
MIRT1165605	hsa-miR-3074-5p	CLIP-seq
MIRT1165606	hsa-miR-3920	CLIP-seq
MIRT2047923	hsa-miR-129-5p	CLIP-seq
MIRT2047924	hsa-miR-579	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
HNF1A	Activation	22357705
HNF1A	Unknown	18697801
HNF4A	Activation	22357705
NR2F1	Repression	22357705
SREBF2	Repression	10455139

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005319	Function	Lipid transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	10946006, 16478722, 23475612, 25108285, 26224785, 27487388
GO:0005548	Function	Phospholipid transporter activity	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	16478722, 22236406, 23475612, 26224785
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	16478722
GO:0006497	Process	Protein lipidation	IEA
GO:0006629	Process	Lipid metabolic process	TAS	1439810
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009306	Process	Protein secretion	IDA	16478722
GO:0009306	Process	Protein secretion	IMP	8876250, 23749231
GO:0015914	Process	Phospholipid transport	IDA	23475612, 26224785
GO:0015918	Process	Sterol transport	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0031526	Component	Brush border membrane	IEA
GO:0031528	Component	Microvillus membrane	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034185	Function	Apolipoprotein binding	IEA
GO:0034197	Process	Triglyceride transport	IDA	22236406, 23475612, 25108285, 26224785
GO:0034197	Process	Triglyceride transport	IMP	23749231
GO:0034374	Process	Low-density lipoprotein particle remodeling	IEA
GO:0034377	Process	Plasma lipoprotein particle assembly	IDA	16478722, 23475612, 26224785
GO:0034377	Process	Plasma lipoprotein particle assembly	IMP	8876250
GO:0034378	Process	Chylomicron assembly	TAS
GO:0034379	Process	Very-low-density lipoprotein particle assembly	TAS
GO:0042157	Process	Lipoprotein metabolic process	IBA	21873635
GO:0042632	Process	Cholesterol homeostasis	IBA	21873635
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	23475612
GO:0051592	Process	Response to calcium ion	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120014	Function	Phospholipid transfer activity	IDA	23475612, 26224785
GO:0120019	Function	Phosphatidylcholine transfer activity	IDA	16478722
GO:0120019	Function	Phosphatidylcholine transfer activity	IMP	8876250
GO:0120020	Function	Cholesterol transfer activity	IDA	15897609, 16478722
GO:0120020	Function	Cholesterol transfer activity	IMP	8876250
GO:0140344	Function	Triglyceride transfer activity	IDA	15897609, 16478722, 22236406, 25108285
GO:0140344	Function	Triglyceride transfer activity	IMP	8876250
GO:1902388	Function	Ceramide 1-phosphate transfer activity	IDA	23475612
GO:1902389	Process	Ceramide 1-phosphate transport	IEA
GO:1904121	Function	Phosphatidylethanolamine transfer activity	IDA	15897609, 16478722

MIM	HGNC	e!Ensembl
157147	7467	ENSG00000138823

Protein

UniProt ID

P55157

Protein name

Microsomal triglyceride transfer protein large subunit

Protein function

Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:15897609, PubMed:16478722, PubMed:22236406, PubMed:23475612, PubMed:25108285, PubMed:26224785, PubMed:8876250, PubMed:8939939). Re

PDB

8EOJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01347	Vitellogenin_N	28 → 584	Lipoprotein amino terminal region	Family

Tissue specificity

TISSUE SPECIFICITY: Liver and small intestine. Also found in ovary, testis and kidney. {ECO:0000269|PubMed:7961826}.

Sequence

MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRIS
SNVDVALLWRNPDGDDDQLIQITMKDVNVENVNQQRGEKSIFKGKSPSKIMGKENLEALQ
RPTLLHLIHGKVKEFYSYQNEAVAIENIKRGLASLFQTQLSSGTTNEVDISGNCKVTYQA
HQDKVIKIKALDSCKIARSGFTTPNQVLGVSSKATSVTTYKIEDSFVIAVLAEETHNFGL
NFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAVDSKYTAIPIVGQVFQSHCKG
CPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKMENKEVLPQLV
DAVTSAQTSDSLEAILDFLDFKSDSSIILQERFLYACGFASHPNEELLRALISKFKGSIG
SSDIRETVMIITGTLVRKLCQNEGCKLKAVVEAKKLILGGLEKAEKKEDTRMYLLALKNA
LLPEGIPSLLKYAEAGEGPISHLATTALQRYDLPFITDEVKKTLNRIYHQNRKVHEKTVR
TAAAAIILNNNPSYMDVKNILLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEM
VAHNYDRFSRSGSSSAYTGYIERSPRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLH
GSQVVIEAQGLEALIAATPDEGEENLDSYAGMSAILFDVQLRPVTFFNGYSDLMSKMLSA
SGDPISVVKGLILLIDHSQELQLQSGLKANIEVQGGLAIDISGAMEFSLWYRESKTRVKN
RVTVVITTDITVDSSFVKAGLETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQF
EKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF

Sequence length

894

Interactions

View interactions

	KEGG		Reactome
	Fat digestion and absorption		VLDL assembly Chylomicron assembly

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID
Causal
Metabolic syndrome	ABDOMINAL OBESITY-METABOLIC SYNDROME 1	rs367643250, rs587777380, rs777736953
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034 View all (1161 more)
Hypertension	Hypertensive disease	rs13306026
Hypobetalipoproteinemia	NON RARE IN EUROPE: Familial hypobetalipoproteinemia	rs281865425, rs397514255, rs121918383, rs121918384, rs121918385, rs121918386, rs387906569, rs397514256, rs121918387, rs121918389, rs121918390, rs587776852, rs1572800245, rs606231236, rs797045253 View all (9 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Celiac disease	Celiac disease			GWAS

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text Mining
Abetalipoproteinemia	Associate	14732481, 20592474, 22236406, 23556456, 26458397, 27179706, 28514664, 33258201, 34078172, 35931202, 36771214, 8533758, 8808765, 8939939
Atherosclerosis	Associate	26458397, 9463319
Bone Diseases Metabolic	Associate	23556456
Carcinoma Hepatocellular	Associate	35931202
Cardiomyopathies	Associate	28514664
Cardiovascular Diseases	Associate	23356586, 31882500
Chylomicron retention disease	Associate	36771214
Coronary Disease	Associate	16617174, 19255880
Death	Associate	19255880
Diabetes Mellitus	Associate	19255880, 23696415
Diabetes Mellitus Type 2	Associate	12818411
Dyslipidemias	Associate	15547295, 23273182
Edema	Associate	38030461
Fatigue	Associate	38030461
Fatty Liver	Associate	22147193, 25287167, 26458397, 26822232, 28128295, 28356060, 36027755
Fibrosis	Associate	22147193, 25287167, 26458397, 33924242
Hepatitis C	Associate	22147193, 36027755
Hepatitis C	Inhibit	25673715
Hepatitis C Chronic	Associate	22147193, 25287167
Hepatitis Chronic	Associate	36027755
Homozygous Familial Hypercholesterolemia	Associate	27170061
Hyperlipidemias	Associate	26458397
Hyperlipoproteinemia Type II	Associate	17215532
Hypertension	Associate	25587205
Hypobetalipoproteinemia Familial 1	Associate	36771214
Hypobetalipoproteinemias	Associate	14732481, 27179706, 29540175
Hypothyroidism	Associate	31914726
Immunologic Deficiency Syndromes	Associate	23556456
Insulin Resistance	Inhibit	24142110
Insulin Resistance	Associate	26458397
Liver Cirrhosis	Associate	25287167
Liver Failure	Associate	36027755
Metabolic Diseases	Associate	29095929, 29338565
Metabolic Syndrome	Associate	23349834, 26458397
Mitochondrial Diseases	Associate	23696415
Muscle Neoplasms	Associate	38030461
Muscle Weakness	Associate	38030461
Myocardial Infarction	Associate	23356586
Myocardial Ischemia	Inhibit	19546343
Myocardial Ischemia	Associate	19546343, 23356586
Non alcoholic Fatty Liver Disease	Associate	21727734, 26458397, 28950858, 28953935, 35654975
Obesity	Associate	21727734, 28953935
Pain	Associate	38030461
Pneumonia Lipid	Associate	15547295, 26822232
Polyneuropathies	Associate	35023662
Renal Insufficiency Chronic	Associate	29016630, 29779033, 31109090
Stroke	Associate	23696415
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Inhibit	29095929, 35403730
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Associate	35023662

MTTP (microsomal triglyceride transfer protein)