InnateDB Protein
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IDBP-31445.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MTTP
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Protein Name
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microsomal triglyceride transfer protein
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Synonyms
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ABL; MTP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000265517
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InnateDB Gene
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IDBG-31441 (MTTP)
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Protein Structure
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Function |
Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B.
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Subcellular Localization |
Endoplasmic reticulum.
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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.
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Tissue Specificity |
Liver and small intestine. Also found in ovary, testis and kidney. {ECO:0000269PubMed:7961826}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
1
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001747
Lipid transport protein, N-terminal
IPR011030
Vitellinogen, superhelical
IPR015819
Lipid transport protein, beta-sheet shell
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PFAM |
PF01347
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PRINTS |
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PIRSF |
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SMART |
SM00638
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TIGRFAMs |
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Modification |
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SwissProt |
P55157
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PhosphoSite |
PhosphoSite-P55157
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
4547
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UniGene |
Hs.739646
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RefSeq |
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HUGO |
HGNC:7467
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OMIM |
157147
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CCDS |
CCDS3651
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HPRD |
01144
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IMGT |
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EMBL |
AK290793
BC125110
BC125111
X59657
X75500
X83013
X83014
X83015
X83016
X83017
X83018
X83019
X83020
X83021
X83022
X83023
X83024
X83025
X83026
X83027
X83028
X83029
X83030
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GenPept |
AAI25111
AAI25112
BAF83482
CAA42200
CAA53217
CAA58142
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