MTTP microsomal triglyceride transfer protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTTPprovided by HGNC
Official Full Name: microsomal triglyceride transfer proteinprovided by HGNC
Primary source: HGNC:HGNC:7467
See related: Ensembl:ENSG00000138823 MIM:157147
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABL; MTP
Summary: 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]
Expression: Biased expression in small intestine (RPKM 140.0), duodenum (RPKM 122.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 4q23

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	4	NC_000004.12 (99564130..99623997)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (100485287..100545154)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of IL10, MTP, SOD2, and APOE Gene Polymorphisms on the Severity of Liver Fibrosis Induced by HCV Genotype 4.
Title: Impact of IL10, MTP, SOD2, and APOE Gene Polymorphisms on the Severity of Liver Fibrosis Induced by HCV Genotype 4.
Leptin-mediated differential regulation of microsomal triglyceride transfer protein in the intestine and liver affects plasma lipids.
Title: Leptin-mediated differential regulation of microsomal triglyceride transfer protein in the intestine and liver affects plasma lipids.
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.
Title: A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.
MTTP may play an important role for the heart function in conjunction to ischemic events.
Title: Cardiac expression of the microsomal triglyceride transport protein protects the heart function during ischemia.
common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family
Title: In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.
The anti-sense strand of the human MTTP gene transcribes two noncoding RNAs. The MTTP-AS1-Long noncoding RNA is in the cytosol.
Title: Identification of antisense transcripts of the microsomal triglyceride transfer protein genes in humans and mice.
Twenty-three patients were genetically confirmed as affected by primary hypobetalipoproteinemia. In this group of patients, the most prevalent mutated genes were APOB (in 17 patients, with eight novel mutations identified), SAR1B (in 3 patients, with one novel mutation identified), ANGPTL3 (in 2 patients), and MTTP (in 1 patient). The other 21 patients could not be genetically diagnosed with hypobetalipoproteinemia despit
Title: Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients.
The study demonstrates for the first time that MTP gene -493G/T polymorphism has not a major effect on the risk of HCV genotype 1-related hepatic steatosis.
Title: Association between hepatic steatosis and MTP gene -493G/T polymorphism in the patients with HCV genotype 1 infection.
this study suggests that a single copy of the MTTP gene may be sufficient for human normal lipid absorption
Title: Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
The crystal structure of human microsomal triglyceride transfer protein.
Title: The crystal structure of human microsomal triglyceride transfer protein.

Submit: New GeneRIF Correction See all GeneRIFs (110)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available
Abetalipoproteinaemia MedGen: C0000744 OMIM: 200100 GeneReviews: Abetalipoproteinemia	not available
Metabolic syndrome X MedGen: C0524620 OMIM: 605552 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MTTP (e-PCR)
- UniSTS:519174

SHGC-12008 (e-PCR)
- UniSTS:12049

STS-N41015 (e-PCR)
- UniSTS:54811

SHGC-67823 (e-PCR)
- UniSTS:83499

STS-X59657 (e-PCR)
- UniSTS:10797

D4S979 (e-PCR)
- UniSTS:35972

SHGC-67619 (e-PCR)
- UniSTS:6535

GDB:384603 (e-PCR)
- UniSTS:157084

Homology

Homologs of the MTTP gene: The MTTP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 400 organisms have orthologs with human gene MTTP
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables apolipoprotein binding	IEA Inferred from Electronic Annotation more info
enables ceramide 1-phosphate transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables lipid transporter activity	TAS Traceable Author Statement more info
enables phosphatidylcholine transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylethanolamine transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables triglyceride transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables triglyceride transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in ceramide 1-phosphate transport	IEA Inferred from Electronic Annotation more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in chylomicron assembly	TAS Traceable Author Statement more info
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in lipoprotein metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in lipoprotein transport	IEA Inferred from Electronic Annotation more info
involved_in low-density lipoprotein particle remodeling	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma lipoprotein particle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma lipoprotein particle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein lipidation	IEA Inferred from Electronic Annotation more info
involved_in protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in sterol transport	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride transport	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in very-low-density lipoprotein particle assembly	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in brush border membrane	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in microvillus membrane	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in rough endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: microsomal triglyceride transfer protein large subunit

Names: microsomal triglyceride transfer protein (large polypeptide, 88kDa)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011469.1 RefSeqGene

Range

4996..64915

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000253.4 → NP_000244.2 microsomal triglyceride transfer protein large subunit isoform 1 precursor

See identical proteins and their annotated locations for NP_000244.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).

Source sequence(s)

AI623321, BC125110, BE047932, CB162574, DB458800, X91148

Consensus CDS

CCDS3651.1

UniProtKB/Swiss-Prot

P55157

Related

ENSP00000400821.1, ENST00000457717.6

Conserved Domains (1) summary

cl26969
Location:28 → 584

Vitellogenin_N; Lipoprotein amino terminal region
NM_001300785.2 → NP_001287714.2 microsomal triglyceride transfer protein large subunit isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in its 5' UTR and coding region, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC083902

Consensus CDS

CCDS75169.1

Related

ENSP00000427679.2, ENST00000511045.6

Conserved Domains (1) summary

cl26969
Location:1 → 501

Vitellogenin_N; Lipoprotein amino terminal region
NM_001386140.1 → NP_001373069.1 microsomal triglyceride transfer protein large subunit isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC083902

Related

ENSP00000265517.5, ENST00000265517.10

Conserved Domains (1) summary

cl26969
Location:28 → 584

Vitellogenin_N; Lipoprotein amino terminal region