MTTP Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MTTP |
| Official Name | microsomal triglyceride transfer protein [Source:HGNC Symbol;Acc:HGNC:7467] |
| Ensembl ID | ENSG00000138823 |
| Bio databases IDs | |
| Aliases | microsomal triglyceride transfer protein |
| Synonyms | 1810043K16RIK, ABL, Microsomal triglyceride transfer, microsomal triglyceride transfer protein, MTP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MTTP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- Lipoprotein N-terminal Domain
- phosphatidylcholine transporter
- binding protein
- phospholipid transporter
- Lipoprotein amino terminal region
- alpha helix
- sphingolipid transporter
- protein binding
- protein heterodimerization
- transporter
- Vitellinogen, open beta-sheet
Pathways
Biological processes and signaling networks where the MTTP gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- nonalcoholic fatty liver disease
- hepatitis
- abetalipoproteinemia
- homozygous familial hypercholesterolemia
- progressive familial intrahepatic cholestasis type 1
- diabetes mellitus
- primary biliary cirrhosis
- hypercholesterolemia
- liver disease
role in cell
- expression in
- apoptosis
- proliferation
- activation
- number
- synthesis in
- formation
- assembly
- transcription in
- accumulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- lipid droplets
- cytosol
- endoplasmic reticulum compartments
- endoplasmic reticulum lumen
- microsome
- basolateral membrane
- rough endoplasmatic reticulum
- brush border
- microvilli
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTTP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- low-density lipoprotein particle remodeling
- triglyceride transport
- triglyceride metabolic process
- lipoprotein metabolic process
- circadian rhythm
- cholesterol homeostasis
- protein secretion
- lipoprotein transport
- sterol transport
- response to calcium ion
- lipid metabolic process
- phospholipid transport
- very-low-density lipoprotein particle assembly
- chylomicron assembly
- establishment of localization in cell
- plasma lipoprotein particle assembly
Cellular Component
Where in the cell the gene product is active
- microvillus membrane
- endoplasmic reticulum lumen
- brush border membrane
- cytosol
- vesicle
- endoplasmic reticulum
- Golgi apparatus
- receptor complex
- basolateral plasma membrane
Molecular Function
What the gene product does at the molecular level
- apolipoprotein binding
- protein binding
- phospholipid transporter activity
- lipid transporter activity
- protein heterodimerization activity
- lipid binding