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

    Gene ID: 4547, updated on 28-Oct-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
    mouse all
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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 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
    		Compare labs

    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)

    Genotypes

    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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    NEW Try the new Transcript table

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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