Human Gene MTTP (ENST00000265517.10_4) from GENCODE V47lift37
  Description: microsomal triglyceride transfer protein, transcript variant 3 (from RefSeq NM_001386140.1)
Gencode Transcript: ENST00000265517.10_4
Gencode Gene: ENSG00000138823.14_15
Transcript (Including UTRs)
   Position: hg19 chr4:100,495,981-100,545,154 Size: 49,174 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr4:100,496,067-100,544,005 Size: 47,939 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:100,495,981-100,545,154)mRNA (may differ from genome)Protein (894 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MTP_HUMAN
DESCRIPTION: RecName: Full=Microsomal triglyceride transfer protein large subunit; Flags: Precursor;
FUNCTION: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B.
SUBUNIT: Heterodimer composed of MTTP and of protein disulfide isomerase (P4HB/PDI) (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum.
TISSUE SPECIFICITY: Liver and small intestine. Also found in ovary, testis and kidney.
INDUCTION: Positively regulated by cholesterol and negatively regulated by insulin.
DISEASE: Defects in MTTP are the cause of abetalipoproteinemia (ABL) [MIM:200100]. ABL is 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.
SIMILARITY: Contains 1 vitellogenin domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MTTP
Diseases sorted by gene-association score: abetalipoproteinemia* (1721), abdominal obesity-metabolic syndrome 1* (550), hypobetalipoproteinemia (19), chylomicron retention disease (18), nonalcoholic steatohepatitis (9), sitosterolemia (8), steatorrhea (8), hypolipoproteinemia (8), hypercholesterolemia, familial (6), lipid metabolism disorder (6), diabetes mellitus, noninsulin-dependent (1), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.76 RPKM in Small Intestine - Terminal Ileum
Total median expression: 59.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.1086-0.280 Picture PostScript Text
3' UTR -249.401149-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015819 - Lipid_transp_b-sht_shell
IPR001747 - Lipid_transpt_N
IPR015816 - Vitellinogen_b-sht_N
IPR011030 - Vitellinogen_superhlx

Pfam Domains:
PF01347 - Lipoprotein amino terminal region
PF19444 - MTP large subunit, lipid-binding domain

SCOP Domains:
48431 - Lipovitellin-phosvitin complex, superhelical domain
56968 - Lipovitellin-phosvitin complex; beta-sheet shell regions

ModBase Predicted Comparative 3D Structure on P55157
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005319 lipid transporter activity
GO:0005515 protein binding
GO:0005548 phospholipid transporter activity
GO:0008289 lipid binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0006869 lipid transport
GO:0009306 protein secretion
GO:0015914 phospholipid transport
GO:0034197 triglyceride transport
GO:0034377 plasma lipoprotein particle assembly
GO:0034378 chylomicron assembly
GO:0034379 very-low-density lipoprotein particle assembly

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0043235 receptor complex


-  Descriptions from all associated GenBank mRNAs
  AK302602 - Homo sapiens cDNA FLJ51770 complete cds, highly similar to Microsomal triglyceride transfer protein large subunit precursor.
AK225328 - Homo sapiens mRNA for Microsomal triglyceride transfer protein large subunit precursor variant, clone: HEP08255.
X59657 - H.sapiens RNA for MTP.
AK290793 - Homo sapiens cDNA FLJ76050 complete cds, highly similar to Homo sapiens microsomal triglyceride transfer protein (large polypeptide, 88kDa) (MTP), mRNA.
BC125110 - Homo sapiens microsomal triglyceride transfer protein, mRNA (cDNA clone MGC:149819 IMAGE:40118807), complete cds.
BC125111 - Homo sapiens microsomal triglyceride transfer protein, mRNA (cDNA clone MGC:149820 IMAGE:40118809), complete cds.
X75500 - H.sapiens mRNA for microsomal triglyceride transfer protein.
X91148 - H.sapiens mRNA for microsomal triglyceride transfer protein.
BC062696 - Homo sapiens microsomal triglyceride transfer protein, mRNA (cDNA clone IMAGE:30382125), complete cds.
KJ905831 - Synthetic construct Homo sapiens clone ccsbBroadEn_15501 MTTP gene, encodes complete protein.
JD294717 - Sequence 275741 from Patent EP1572962.
JD206458 - Sequence 187482 from Patent EP1572962.
JD457578 - Sequence 438602 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
TRNA-CHARGING-PWY - tRNA charging

Reactome (by CSHL, EBI, and GO)

Protein P55157 (Reactome details) participates in the following event(s):

R-HSA-174786 ApoB-48 + 40 triacylglycerol + 60 phospholipid => ApoB-48:TG:PL complex
R-HSA-8866329 MTTP lipidates APOB-100, forming a pre-VLDL
R-HSA-8963888 Chylomicron assembly
R-HSA-8866423 VLDL assembly
R-HSA-8963898 Plasma lipoprotein assembly
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8K428, ENST00000265517.1, ENST00000265517.2, ENST00000265517.3, ENST00000265517.4, ENST00000265517.5, ENST00000265517.6, ENST00000265517.7, ENST00000265517.8, ENST00000265517.9, MTP, MTP_HUMAN, NM_001386140, P55157, Q08AM4, Q6P5T3, uc317iby.1, uc317iby.2
UCSC ID: ENST00000265517.10_4
RefSeq Accession: NM_001386140.1
Protein: P55157 (aka MTP_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MTTP:
ab-lipo-p (Abetalipoproteinemia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.