Homo sapiens Protein: MTTP
Summary
InnateDB Protein IDBP-31445.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTTP
Protein Name microsomal triglyceride transfer protein
Synonyms ABL; MTP;
Species Homo sapiens
Ensembl Protein ENSP00000265517
InnateDB Gene IDBG-31441 (MTTP)
Protein Structure
UniProt Annotation
Function Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B.
Subcellular Localization Endoplasmic reticulum.
Disease Associations 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:0000269PubMed:10679949, ECO:0000269PubMed:10946006, ECO:0000269PubMed:8939939}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Liver and small intestine. Also found in ovary, testis and kidney. {ECO:0000269PubMed:7961826}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 1 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005319 lipid transporter activity
GO:0008289 lipid binding
Biological Process
GO:0006629 lipid metabolic process
GO:0006869 lipid transport
GO:0042157 lipoprotein metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005788 endoplasmic reticulum lumen
GO:0043235 receptor complex
Protein Structure and Domains
PDB ID
InterPro IPR001747 Lipid transport protein, N-terminal
IPR011030 Vitellinogen, superhelical
IPR015819 Lipid transport protein, beta-sheet shell
PFAM PF01347
PRINTS
PIRSF
SMART SM00638
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P55157
PhosphoSite PhosphoSite-P55157
TrEMBL
UniProt Splice Variant
Entrez Gene 4547
UniGene Hs.739646
RefSeq
HUGO HGNC:7467
OMIM 157147
CCDS CCDS3651
HPRD 01144
IMGT
EMBL AK290793 BC125110 BC125111 X59657 X75500 X83013 X83014 X83015 X83016 X83017 X83018 X83019 X83020 X83021 X83022 X83023 X83024 X83025 X83026 X83027 X83028 X83029 X83030
GenPept AAI25111 AAI25112 BAF83482 CAA42200 CAA53217 CAA58142