MTTP (microsomal triglyceride transfer protein)

2003-05-01  

Identity

HGNC
MTTP
LOCATION
4q23
LOCUSID
4547
ALIAS
ABL,MTP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4547
MIM: 157147
HGNC: 7467
Ensembl: ENSG00000138823

Variants:

dbSNP: 4547
ClinVar: 4547
TCGA: ENSG00000138823
COSMIC: MTTP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138823ENST00000265517P55157
ENSG00000138823ENST00000422897P55157
ENSG00000138823ENST00000457717P55157
ENSG00000138823ENST00000504724D6RBJ4
ENSG00000138823ENST00000505094D6RAB8
ENSG00000138823ENST00000505142D6RHZ9
ENSG00000138823ENST00000506883D6REL9
ENSG00000138823ENST00000511045E9PBP6
ENSG00000138823ENST00000511610D6R915
ENSG00000138823ENST00000513404D6REP9
ENSG00000138823ENST00000515141D6RJG5

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
VLDL interactionsREACTOMER-HSA-8855121
VLDL biosynthesisREACTOMER-HSA-8866423

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA24888APOA5GenePathwayassociated
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD15136504
PA444517Hyperlipoproteinemia Type IIDiseaseClinicalAnnotationassociatedPD15864113
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD15864113
PA451089pravastatinChemicalClinicalAnnotationassociatedPD15136504
PA50APOBGenePathwayassociated
PA51APOC1GenePathwayassociated
PA52APOC2GenePathwayassociated
PA53APOC3GenePathwayassociated
PA55APOEGenePathwayassociated

References

Pubmed IDYearTitleCitations
382906492024Exploring the combined effects of MTTP gene polymorphisms in chronic hepatitis C patients with hepatic steatosis.0
383257412024Bulky hydrophobic side chains in the β1-sandwich of microsomal triglyceride transfer protein are critical for the transfer of both triglycerides and phospholipids.0
382906492024Exploring the combined effects of MTTP gene polymorphisms in chronic hepatitis C patients with hepatic steatosis.0
383257412024Bulky hydrophobic side chains in the β1-sandwich of microsomal triglyceride transfer protein are critical for the transfer of both triglycerides and phospholipids.0
360531902023Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion.3
377267652023Association between MTTP genotype (-493G/T) polymorphism and hepatic steatosis in hepatitis C: a systematic review and meta-analysis.0
360531902023Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion.3
377267652023Association between MTTP genotype (-493G/T) polymorphism and hepatic steatosis in hepatitis C: a systematic review and meta-analysis.0
360277552022Effect of MTTP -493G/T, I128T, Q95H and Q244E polymorphisms on hepatic steatosis in patients with chronic hepatitis.2
362287412022Microsomal triglyceride transfer protein regulates intracellular lipolysis in adipocytes independent of its lipid transfer activity.4
360277552022Effect of MTTP -493G/T, I128T, Q95H and Q244E polymorphisms on hepatic steatosis in patients with chronic hepatitis.2
362287412022Microsomal triglyceride transfer protein regulates intracellular lipolysis in adipocytes independent of its lipid transfer activity.4
332582012021A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.4
339242422021Impact of IL10, MTP, SOD2, and APOE Gene Polymorphisms on the Severity of Liver Fibrosis Induced by HCV Genotype 4.1
340521732021Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.0

Citation

Dessen P

MTTP (microsomal triglyceride transfer protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41449/mttp-(microsomal-triglyceride-transfer-protein)