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Aliases for MTTP Gene

Aliases for MTTP Gene

  • Microsomal Triglyceride Transfer Protein 2 3
  • MTP 3 4 6
  • Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kDa) 2 3
  • Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kD) 2
  • Microsomal Triglyceride Transfer Protein Large Subunit 3
  • 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 hypobetalipoproteinemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein heterodimerization activity and lipid transporter activity.

UniProtKB/Swiss-Prot for MTTP Gene

  • Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B

Gene Wiki entry for MTTP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTTP Gene

Genomics for MTTP Gene

Regulatory Elements for MTTP Gene

Genomic Location for MTTP Gene

Start:
99,563,761 bp from pter
End:
99,623,999 bp from pter
Size:
60,239 bases
Orientation:
Plus strand

Genomic View for MTTP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 composed of MTTP and of protein disulfide isomerase (P4HB/PDI).

    Alternative splice isoforms for MTTP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTTP Gene

Proteomics data for MTTP Gene at MOPED

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 for MTTP Gene

Suggested Antigen Peptide Sequences for MTTP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55157

UniProtKB/Swiss-Prot:

MTP_HUMAN :
  • P55157
Domain:
  • Contains 1 vitellogenin domain.
genes like me logo Genes that share domains with MTTP: view

No data available for Gene Families 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. Required for the secretion of plasma lipoproteins that contain apolipoprotein B
UniProtKB/Swiss-Prot Induction:
Positively regulated by cholesterol and negatively regulated by insulin.

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 --
GO:0008289 lipid binding IEA --
GO:0034185 apolipoprotein binding --
GO:0046982 protein heterodimerization activity --
genes like me logo Genes that share ontologies with MTTP: view
genes like me logo Genes that share phenotypes with MTTP: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MTTP Gene

Localization for MTTP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTTP Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTTP Gene COMPARTMENTS Subcellular localization image for MTTP gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
golgi apparatus 2
peroxisome 2
plasma membrane 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MTTP Gene

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

Pathways for MTTP Gene

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

Pathways by source for MTTP Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MTTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006497 protein lipidation --
GO:0006629 lipid metabolic process TAS 1439810
GO:0006641 triglyceride metabolic process --
GO:0006869 lipid transport IEA --
GO:0042157 lipoprotein metabolic process TAS --
genes like me logo Genes that share ontologies with MTTP: view

Compounds for MTTP Gene

(1) ApexBio Compounds for MTTP Gene

Compound Action Cas Number
Lomitapide [182431-12-5]

(290) HMDB Compounds for MTTP Gene

Compound Synonyms Cas Number PubMed IDs
Hesperetin
  • Flavanone, 3',5,7-trihydroxy-4'-methoxy- (VAN) (8CI)
520-33-2
TG(10:0/10:0/10:0)[iso]
  • Tri-n-caprin
621-71-6
TG(12:0/12:0/12:0)
  • Triacylglycerol
Not Available
TG(15:0/16:0/20:2(11Z,14Z))[iso6]
  • Tracylglycerol(15:0/16:0/20:2)
Not Available
TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]
  • TAG(15:0/16:0/20:3n6)
Not Available

(2) Drugbank Compounds for MTTP Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Hesperetin
  • Cyanidanon 4'-Methyl Ether 1626
520-33-2 target antagonist
Lomitapide
  • AEGR-773
202914-84-9 target antagonist

(47) Novoseek inferred chemical compound relationships for MTTP Gene

Compound -log(P) Hits PubMed IDs
mttp 93.6 45
hmtp 83.4 4
n-acetylleucylleucylnorleucinal 82.8 2
lipovitellin 81.9 8
lipid 72.8 152

(2) PharmGKB related drug/compound annotations for MTTP Gene

Drug/compound Annotation
atorvastatin CA
pravastatin CA
genes like me logo Genes that share compounds with MTTP: view

Transcripts for MTTP Gene

Unigene Clusters for MTTP Gene

Microsomal triglyceride transfer protein:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTTP

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MTTP Gene

GeneLoc Exon Structure for
MTTP
ECgene alternative splicing isoforms for
MTTP

Expression for MTTP Gene

mRNA expression in normal human tissues 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 (27.0) and Small Intestine - Terminal Ileum (16.8).

Protein differential expression in normal tissues 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 from ProteomicsDB, MOPED, and MaxQB for MTTP Gene

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.
genes like me logo Genes that share expressions with MTTP: view

In Situ Assay Products

No data available for 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
cow
(Bos Taurus)
Mammalia MTTP 35
  • 88.18 (n)
  • 86.58 (a)
MTTP 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTTP 35
  • 89.18 (n)
  • 87.68 (a)
MTTP 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mttp 35
  • 84.55 (n)
  • 86 (a)
Mttp 16
Mttp 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MTTP 35
  • 99.33 (n)
  • 99.22 (a)
MTTP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mttp 35
  • 84.49 (n)
  • 86.02 (a)
oppossum
(Monodelphis domestica)
Mammalia MTTP 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTTP 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTTP 35
  • 69.5 (n)
  • 66.97 (a)
MTTP 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTTP 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487453 35
  • 64.87 (n)
  • 61.81 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19753 35
mtp 35
  • 59.26 (n)
  • 54.65 (a)
mtp 36
  • 56 (a)
OneToMany
mtp 36
  • 54 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010234 35
  • 40.33 (n)
  • 25.7 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mtp 35
  • 41.03 (n)
  • 28 (a)
Mtp 36
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
-- 36
  • 41 (a)
OneToMany
Species with no ortholog for MTTP:
  • 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)

Paralogs for MTTP Gene

No data available for Paralogs for MTTP Gene

Variants for MTTP Gene

Sequence variations from dbSNP and Humsavar for MTTP Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs12933 - 99,597,217(+) ATAAG(C/G)AAGTA missense, reference
rs745074 -- 99,611,645(-) GTTCA(A/T)ATTCG intron-variant
rs745075 -- 99,611,480(-) TTATT(A/G)AGCAA intron-variant
rs881980 -- 99,622,147(-) GATAT(A/C)ACTTA intron-variant
rs881981 -- 99,621,325(+) AAAAC(A/G)AAACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv879656 CNV Gain 21882294
esv2488524 CNV Insertion 19546169
nsv512831 CNV Insertion 21212237
esv2728037 CNV Deletion 23290073
nsv289933 CNV Loss 16902084
esv1240378 CNV Insertion 17803354

Relevant External Links for MTTP Gene

HapMap Linkage Disequilibrium report
MTTP
Human Gene Mutation Database (HGMD)
MTTP

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

Disorders for MTTP Gene

(2) OMIM Diseases for MTTP Gene (157147)

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:8939939}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MTTP Gene

(28) Novoseek inferred disease relationships for MTTP Gene

Disease -log(P) Hits PubMed IDs
abetalipoproteinemia 95.6 42
hypobetalipoproteinemia 74.1 2
fatty liver 69.1 11
malabsorption 55.8 3
dyslipidemia 54 6

Relevant External Links for MTTP

Genetic Association Database (GAD)
MTTP
Human Genome Epidemiology (HuGE) Navigator
MTTP
genes like me logo Genes that share disorders with MTTP: view

No data available for Genatlas for MTTP Gene

Publications for MTTP Gene

  1. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. (PMID: 8111381) Shoulders C.C. … Scott J. (Hum. Mol. Genet. 1993) 2 3 4 23
  2. Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index. (PMID: 11792722) Ledmyr H. … Ehrenborg E. (J. Lipid Res. 2002) 3 4 23 48
  3. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. (PMID: 8939939) Rehberg E.F. … Gordon D.A. (J. Biol. Chem. 1996) 3 4 23
  4. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. (PMID: 10679949) Wang J. … Hegele R.A. (Hum. Mutat. 2000) 3 4 23
  5. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. (PMID: 10946006) Ohashi K. … Yamada N. (J. Lipid Res. 2000) 3 4 23

Products for MTTP Gene

Sources for MTTP Gene

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