Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:MTP
MTPase microsomal triglyceride transfer protein large subunit |
| gptkbp:associatedWith |
gptkb:abetalipoproteinemia
gptkb:non-alcoholic_fatty_liver_disease familial hypobetalipoproteinemia |
| gptkbp:cellularComponent |
gptkb:endoplasmic_reticulum
|
| gptkbp:component |
microsome
|
| gptkbp:discoveredBy |
Wetterau et al.
|
| gptkbp:discoveredIn |
1992
|
| gptkbp:encodes |
microsomal triglyceride transfer protein
|
| gptkbp:Entrez_Gene_ID |
4547
|
| gptkbp:expressedIn |
liver
intestine |
| gptkbp:fullName |
microsomal triglyceride transfer protein gene
|
| gptkbp:function |
assembly of apolipoprotein B-containing lipoproteins
lipid transfer triglyceride transfer activity |
| gptkbp:gene |
MTTP
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:GOProcess |
VLDL assembly
chylomicron assembly |
| gptkbp:HGNC_ID |
HGNC:7517
|
| https://www.w3.org/2000/01/rdf-schema#label |
MTTP gene
|
| gptkbp:involvedIn |
cholesterol metabolism
lipoprotein biosynthetic process triglyceride metabolism |
| gptkbp:length |
13 exons
894 amino acids |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
4q24 |
| gptkbp:mutationAssociatedWith |
fat malabsorption
hypocholesterolemia |
| gptkbp:OMIM |
157147
|
| gptkbp:orthologInMouse |
Mttp
|
| gptkbp:orthologInZebrafish |
mttp
|
| gptkbp:proteinFamily |
lipid transfer protein family
|
| gptkbp:referenceGenome |
NM_000253
|
| gptkbp:referenceSequenceProtein |
NP_000244
|
| gptkbp:regulates |
regulated by PPARĪ±
regulated by SREBP1 |
| gptkbp:subunit |
forms heterodimer with protein disulfide isomerase (PDI)
|
| gptkbp:target |
gptkb:lomitapide
antisense oligonucleotides |
| gptkbp:UniProtID |
P55157
|
| gptkbp:bfsParent |
gptkb:Abetalipoproteinemia
|
| gptkbp:bfsLayer |
5
|