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

Gene ID: 4547, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:7467
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
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Genomic context

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See MTTP in Genome Data Viewer
Location:
4q23
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99564130..99623997)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102878899..102939426)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100485287..100545154)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene chromosome 4 open reading frame 17 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 Neighboring gene tRNA methyltransferase 10A Neighboring gene chromosome 4 open reading frame 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21741 Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort. Böhme M, et al. Mol Genet Metab, 2008 Dec. PMID 18951054
  2. Lack of association between microsomal triglyceride transfer protein gene polymorphism and liver steatosis in HCV-infected patients. Petit JM, et al. Mol Genet Metab, 2006 Jun. PMID 16458034
  3. Chromosome 4q25, microsomal transfer protein gene, and human longevity: novel data and a meta-analysis of association studies. Beekman M, et al. J Gerontol A Biol Sci Med Sci, 2006 Apr. PMID 16611701
  4. The Ile128Thr polymorphism influences stability and ligand binding properties of the microsomal triglyceride transfer protein. Ledmyr H, et al. J Lipid Res, 2006 Jul. PMID 16617174
  5. A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels. Rubin D, et al. J Hum Genet, 2006. PMID 16721486

See all (179) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bulky hydrophobic side chains in the beta1-sandwich of microsomal triglyceride transfer protein are critical for the transfer of both triglycerides and phospholipids.
    Title: Bulky hydrophobic side chains in the β1-sandwich of microsomal triglyceride transfer protein are critical for the transfer of both triglycerides and phospholipids.
  2. Exploring the combined effects of MTTP gene polymorphisms in chronic hepatitis C patients with hepatic steatosis.
    Title: Exploring the combined effects of MTTP gene polymorphisms in chronic hepatitis C patients with hepatic steatosis.
  3. Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion.
    Title: Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion.
  4. Association between MTTP genotype (-493G/T) polymorphism and hepatic steatosis in hepatitis C: a systematic review and meta-analysis.
    Title: Association between MTTP genotype (-493G/T) polymorphism and hepatic steatosis in hepatitis C: a systematic review and meta-analysis.
  5. Microsomal triglyceride transfer protein regulates intracellular lipolysis in adipocytes independent of its lipid transfer activity.
    Title: Microsomal triglyceride transfer protein regulates intracellular lipolysis in adipocytes independent of its lipid transfer activity.
  6. Effect of MTTP -493G/T, I128T, Q95H and Q244E polymorphisms on hepatic steatosis in patients with chronic hepatitis.
    Title: Effect of MTTP -493G/T, I128T, Q95H and Q244E polymorphisms on hepatic steatosis in patients with chronic hepatitis.
  7. An improved assay to measure the phospholipid transfer activity of microsomal triglyceride transport protein.
    Title: An improved assay to measure the phospholipid transfer activity of microsomal triglyceride transport protein.
  8. Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
    Title: Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene.
  9. A 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.
    Title: A 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.
  10. 17beta-Estradiol-Induced Conformational Changes of Human Microsomal Triglyceride Transfer Protein: A Computational Molecular Modelling Study.
    Title: 17β-Estradiol-Induced Conformational Changes of Human Microsomal Triglyceride Transfer Protein: A Computational Molecular Modelling Study.
Submit: New GeneRIF Correction See all GeneRIFs (120)

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
Abetalipoproteinaemia
MedGen: C0000744 OMIM: 200100 GeneReviews: Abetalipoproteinemia
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EBI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC149819, MGC149820

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
  
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
  
involved_in chylomicron assembly TAS
Traceable Author Statement
more info
  
involved_in circadian rhythm IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of localization in cell 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
  
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 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
  
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
  
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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

  1. NG_011469.1 RefSeqGene

    Range
    15742..64915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
    A8K428, P55157, Q08AM4, Q6P5T3
    UniProtKB/TrEMBL
    B7Z7X3
    Related
    ENSP00000400821.1, ENST00000457717.6
    Conserved Domains (1) summary
    cl26969
    Location:28 → 584
    Vitellogenin_N; Lipoprotein amino terminal region

  2. 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
    CCDS75169.2
    UniProtKB/TrEMBL
    B7Z7X3, E9PBP6
    Related
    ENSP00000427679.2, ENST00000511045.6
    Conserved Domains (1) summary
    cl26969
    Location:1 → 501
    Vitellogenin_N; Lipoprotein amino terminal region

  3. NM_001386140.1 → NP_001373069.1  microsomal triglyceride transfer protein large subunit isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC083902
    Consensus CDS
    CCDS3651.1
    UniProtKB/Swiss-Prot
    A8K428, P55157, Q08AM4, Q6P5T3
    UniProtKB/TrEMBL
    B7Z7X3
    Related
    ENSP00000265517.5, ENST00000265517.10
    Conserved Domains (1) summary
    cl26969
    Location:28 → 584
    Vitellogenin_N; Lipoprotein amino terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    99564130..99623997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    102878899..102939426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P55157.1 GenPept UniProtKB/Swiss-Prot:P55157

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