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] See more...

Aliases for MTTP Gene

Aliases for MTTP Gene

  • Microsomal Triglyceride Transfer Protein 2 3 5
  • Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kDa) 2 3
  • Microsomal Triglyceride Transfer Protein Large Subunit 3 4
  • MTP 3 4
  • Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kD) 2
  • ABL 3

External Ids for MTTP Gene

Previous HGNC Symbols for MTTP Gene

  • MTP

Previous GeneCards Identifiers for MTTP Gene

  • GCMTU990051
  • GC04P100854
  • GC04P100715
  • GC04P100485
  • GC04P096223

Summaries for MTTP Gene

Entrez Gene Summary for MTTP 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 assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTTP Gene

MTTP (Microsomal Triglyceride Transfer Protein) is a Protein Coding gene. Diseases associated with MTTP include Abetalipoproteinemia and Abdominal Obesity-Metabolic Syndrome 1. Among its related pathways are Lipoprotein metabolism and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and lipid transporter activity.

UniProtKB/Swiss-Prot Summary for MTTP Gene

  • Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:23475612, PubMed:8939939, PubMed:26224785, PubMed:25108285, PubMed:22236406). Required for the secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:23475612, PubMed:8939939, PubMed:26224785).

Gene Wiki entry for MTTP Gene

Additional gene information for MTTP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTTP Gene

Genomics for MTTP Gene

GeneHancer (GH) Regulatory Elements for MTTP Gene

Promoters and enhancers for MTTP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J099562 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 523.2 +0.2 206 3.5 FOXK2 ZBTB40 ZNF217 EP300 SIN3A TCF12 POLR2G SP1 PHF8 JUND MTTP TRMT10A HSALNG0036005
GH04J099571 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 520.7 +12.2 12177 9 FOXK2 POLR2G NCOR1 KDM6A ZBTB7A SKI TEAD1 U2AF2 FOXA2 SIN3A MTTP TRMT10A ENSG00000246090 ADH1B HSALNG0036005 ENSG00000248676
GH04J099814 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 +253.2 253189 4.1 ZBTB40 SIN3A SP1 EP300 POLR2A RELA RCOR1 NFYB BCL11A TCF12 DAPP1 TRMT10A MTTP DNAJB14 ENSG00000245322 H2AZ1 LAMTOR3 C4orf54
GH04J099893 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10 +330.1 330140 3 ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 POLR2G USF1 SP1 PHF8 LAMTOR3 lnc-DAPP1-8 lnc-LAMTOR3-1 DNAJB14 ENSG00000245322 H2AZ1 MTTP TRMT10A DAPP1 RF00994-750
GH04J099535 Enhancer 0.8 Ensembl ENCODE 23.5 -27.1 -27100 1.5 FOXA2 POLR2A NR2F2 FOXP1 BCL6 RXRA RARA THRB SMARCA4 NR2F6 piR-32810-085 MTTP C4orf17 TRMT10A ADH1B lnc-ADH7-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTTP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTTP

Top Transcription factor binding sites by QIAGEN in the MTTP gene promoter:
  • AML1a
  • AREB6
  • c-Myb
  • C/EBPbeta
  • FOXC1
  • GATA-1
  • LyF-1
  • MyoD
  • POU6F1 (c2)
  • RORalpha1

Genomic Locations for MTTP Gene

Genomic Locations for MTTP Gene
chr4:99,563,761-99,623,999
(GRCh38/hg38)
Size:
60,239 bases
Orientation:
Plus strand
chr4:100,484,918-100,545,156
(GRCh37/hg19)
Size:
60,239 bases
Orientation:
Plus strand

Genomic View for MTTP Gene

Genes around MTTP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTTP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTTP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTTP Gene

Proteins for MTTP Gene

  • Protein details for MTTP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55157-MTP_HUMAN
    Recommended name:
    Microsomal triglyceride transfer protein large subunit
    Protein Accession:
    P55157
    Secondary Accessions:
    • A8K428
    • Q08AM4
    • Q6P5T3

    Protein attributes for MTTP Gene

    Size:
    894 amino acids
    Molecular mass:
    99351 Da
    Quaternary structure:
    • Heterodimer; heterodimerizes with the protein disulfide isomerase (P4HB/PDI) (PubMed:23475612, PubMed:26224785, PubMed:25108285). Interacts with APOB (PubMed:26224785, PubMed:25108285, PubMed:27206948).

    Alternative splice isoforms for MTTP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTTP Gene

Post-translational modifications for MTTP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTTP Gene

Domains & Families for MTTP Gene

Gene Families for MTTP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for MTTP Gene

Blocks:
  • Lipid transport protein, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTTP Gene

GenScript: Design optimal peptide antigens:
  • Microsomal triglyceride transfer protein large subunit (MTP_HUMAN)
  • Microsomal triglyceride transfer protein (Q16240_HUMAN)
  • Metallothionein (Q86YX0_HUMAN)
genes like me logo Genes that share domains with MTTP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MTTP Gene

Function for MTTP Gene

Molecular function for MTTP Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:23475612, PubMed:8939939, PubMed:26224785, PubMed:25108285, PubMed:22236406). Required for the secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:23475612, PubMed:8939939, PubMed:26224785).
UniProtKB/Swiss-Prot Induction:
Positively regulated by cholesterol and negatively regulated by insulin.

Phenotypes From GWAS Catalog for MTTP Gene

Gene Ontology (GO) - Molecular Function for MTTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity TAS --
GO:0005515 protein binding IPI 23475612
GO:0005548 phospholipid transporter activity IBA 21873635
GO:0008289 lipid binding IEA --
GO:0034185 apolipoprotein binding IEA --
genes like me logo Genes that share ontologies with MTTP: view
genes like me logo Genes that share phenotypes with MTTP: view

Human Phenotype Ontology for MTTP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTTP Gene

MGI Knock Outs for MTTP:

miRNA for MTTP Gene

miRTarBase miRNAs that target MTTP

Clone Products

  • Addgene plasmids for MTTP

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MTTP Gene

Localization for MTTP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTTP Gene

Endoplasmic reticulum. Note=Colocalizes with P4HB/PDI in the endoplasmic reticulum (PubMed:23475612, PubMed:26224785). {ECO:0000269 PubMed:23475612, ECO:0000269 PubMed:26224785}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTTP gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
golgi apparatus 4
extracellular 3
mitochondrion 2
peroxisome 2
nucleus 2
endosome 2
cytosol 2
lysosome 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IBA 22236406
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016323 basolateral plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with MTTP: view

Pathways & Interactions for MTTP Gene

genes like me logo Genes that share pathways with MTTP: view

Pathways by source for MTTP Gene

SIGNOR curated interactions for MTTP Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MTTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006497 protein lipidation IEA --
GO:0006629 lipid metabolic process TAS 1439810
GO:0006641 triglyceride metabolic process IEA --
GO:0006869 lipid transport IEA --
GO:0007623 circadian rhythm IEA --
genes like me logo Genes that share ontologies with MTTP: view

Drugs & Compounds for MTTP Gene

(30) Drugs for MTTP Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lomitapide Approved, Investigational Pharma Target, antagonist 0
Atorvastatin Approved Pharma Competitive, Inhibitor 875
Pravastatin Approved Pharma Competitive, Inhibitor 163
Hesperetin Experimental Pharma Target, antagonist 0
Implitapide Investigational Pharma Target, inhibitor 0

(28) Additional Compounds for MTTP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group A
  • 1-Palmitoyl-2-stearoyl-3-arachidonoyl-glycerol
  • TAG(16:0/18:0/20:4)
  • TAG(16:0/18:0/20:4n6)
  • TAG(16:0/18:0/20:4W6)
  • TAG(54:4)
Triglycerides Group B
  • 1-Myristoyl-2-pentadecanoyl-3-g-linolenoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-(6Z,9Z,12Z-octadecatrienoyl)-glycerol
  • TAG(14:0/15:0/18:3)
  • TAG(47:3)
  • TG(14:0/15:0/18:3)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group C
  • 2,3-Di(octadecanoyloxy)propyl octadecanoate
  • Glyceryl tristearate
  • Stearic acid triglycerin ester
  • Stearin
  • Trioctadecanoin
620-64-4
Triglycerides Group D
  • 1,2,3-Propanol tridecanoate
  • 1,2,3-Tridecanoylglycerol
  • Capric acid triglyceride
  • Capric triglyceride
  • Caprin
621-71-6, 30773-83-2, 555-44-2

(1) ApexBio Compounds for MTTP Gene

Compound Action Cas Number
Lomitapide 182431-12-5
genes like me logo Genes that share compounds with MTTP: view

Drug Products

Transcripts for MTTP Gene

mRNA/cDNA for MTTP Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for MTTP

Alternative Splicing Database (ASD) splice patterns (SP) for MTTP Gene

No ASD Table

Relevant External Links for MTTP Gene

GeneLoc Exon Structure for
MTTP

Expression for MTTP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTTP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTTP Gene

This gene is overexpressed in Liver (x27.0) and Small Intestine - Terminal Ileum (x16.8).

Protein differential expression in normal tissues from HIPED for MTTP Gene

This gene is overexpressed in Liver (22.4), Fetal gut (17.0), Pancreatic juice (13.1), and Fetal Liver (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTTP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTTP

SOURCE GeneReport for Unigene cluster for MTTP Gene:

Hs.195799

mRNA Expression by UniProt/SwissProt for MTTP Gene:

P55157-MTP_HUMAN
Tissue specificity: Liver and small intestine. Also found in ovary, testis and kidney.

Evidence on tissue expression from TISSUES for MTTP Gene

  • Liver(4.8)
  • Intestine(4.7)
  • Kidney(4.3)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTTP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Abdomen:
  • gallbladder
  • intestine
  • large intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with MTTP: view

No data available for Protein tissue co-expression partners for MTTP Gene

Orthologs for MTTP Gene

This gene was present in the common ancestor of animals.

Orthologs for MTTP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTTP 31 30
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MTTP 31 30
  • 89.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTTP 31 30
  • 88.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mttp 17 31 30
  • 84.55 (n)
rat
(Rattus norvegicus)
Mammalia Mttp 30
  • 84.49 (n)
oppossum
(Monodelphis domestica)
Mammalia MTTP 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTTP 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTTP 31 30
  • 69.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTTP 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487453 30
  • 64.87 (n)
zebrafish
(Danio rerio)
Actinopterygii mtp 31 31 30
  • 59.26 (n)
OneToMany
Dr.19753 30
fruit fly
(Drosophila melanogaster)
Insecta Mtp 31 30
  • 41.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010234 30
  • 40.33 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
-- 31
  • 31 (a)
OneToMany
Species where no ortholog for MTTP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTTP Gene

ENSEMBL:
Gene Tree for MTTP (if available)
TreeFam:
Gene Tree for MTTP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTTP: view image

Paralogs for MTTP Gene

No data available for Paralogs for MTTP Gene

Variants for MTTP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTTP Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
638950 Pathogenic: not provided 99,611,241(+) G/A SPLICE_DONOR_VARIANT
646677 Likely Pathogenic: not provided 99,611,330(+) A/G SPLICE_ACCEPTOR_VARIANT
716451 Likely Benign: not provided 99,581,967(+) G/A MISSENSE_VARIANT
719676 Likely Benign: not provided 99,597,072(+) G/A SYNONYMOUS_VARIANT
731518 Likely Benign: not provided 99,594,728(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MTTP Gene

Structural Variations from Database of Genomic Variants (DGV) for MTTP Gene

Variant ID Type Subtype PubMed ID
esv1240378 CNV insertion 17803354
esv2488524 CNV insertion 19546169
esv2728037 CNV deletion 23290073
esv3377330 CNV duplication 20981092
esv3564327 CNV deletion 23714750
esv3569627 CNV loss 25503493
esv3601557 CNV gain 21293372
nsv289933 CNV deletion 16902084
nsv478722 CNV novel sequence insertion 20440878
nsv512831 CNV insertion 21212237

Variation tolerance for MTTP Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.52; 96.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTTP Gene

Human Gene Mutation Database (HGMD)
MTTP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTTP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTTP Gene

Disorders for MTTP Gene

MalaCards: The human disease database

(23) MalaCards diseases for MTTP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTTP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTP_HUMAN
  • Abetalipoproteinemia (ABL) [MIM:200100]: An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. {ECO:0000269 PubMed:10679949, ECO:0000269 PubMed:10946006, ECO:0000269 PubMed:22236406, ECO:0000269 PubMed:23475612, ECO:0000269 PubMed:25108285, ECO:0000269 PubMed:26224785, ECO:0000269 PubMed:8939939}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MTTP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MTTP: view

No data available for Genatlas for MTTP Gene

Publications for MTTP Gene

  1. Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index. (PMID: 11792722) Ledmyr H … Ehrenborg E (Journal of lipid research 2002) 3 4 23 41 54
  2. Human microsomal triglyceride transfer protein large subunit gene structure. (PMID: 7545943) Sharp D … Wetterau JR (Biochemistry 1994) 3 4 23 26 54
  3. Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease. (PMID: 19817962) Oliveira CP … Corrêa-Giannella ML (Journal of gastroenterology and hepatology 2010) 3 23 41 54
  4. Allele-specific regulation of MTTP expression influences the risk of ischemic heart disease. (PMID: 19546343) Aminoff A … Ehrenborg E (Journal of lipid research 2010) 3 23 41 54
  5. The environmental and genetic evidence for the association of hyperlipidemia and hypertension. (PMID: 19155782) Ruixing Y … Shangling P (Journal of hypertension 2009) 3 23 41 54

Products for MTTP Gene