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

    Gene ID: 4547, updated on 13-Aug-2016
    Official Symbol
    MTTPprovided by HGNC
    Official Full Name
    microsomal triglyceride transfer proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7467
    See related
    Ensembl:ENSG00000138823 HPRD:01144; MIM:157147; Vega:OTTHUMG00000131023
    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]
    Orthologs
    Location:
    4q24
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (99564078..99623997)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100485240..100545154)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene chromosome 4 open reading frame 17 Neighboring gene tRNA methyltransferase 10A Neighboring gene uncharacterized LOC285556 Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Abetalipoproteinaemia
    MedGen: C0000744 OMIM: 200100 GeneReviews: Not available
    Compare labs
    Metabolic syndrome X
    MedGen: C0524620 OMIM: 605552 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    NHGRI GWA Catalog
    • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
      Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
    • Fat digestion and absorption, organism-specific biosystem (from KEGG)
      Fat digestion and absorption, organism-specific biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Fat digestion and absorption, conserved biosystem (from KEGG)
      Fat digestion and absorption, conserved biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC149819, MGC149820

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    lipid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid transporter activity TAS
    Traceable Author Statement
    more info
     
    phospholipid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    lipoprotein biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phospholipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma lipoprotein particle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    microsomal triglyceride transfer protein large subunit
    Names
    microsomal triglyceride transfer protein (large polypeptide, 88kDa)

    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
      4996..64915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000253.3NP_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, ENST00000457717
      Conserved Domains (1) summary
      pfam01347
      Location:28584
      Vitellogenin_N; Lipoprotein amino terminal region
    2. NM_001300785.1NP_001287714.1  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 longer and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AI623321, AK302602, BC125110, BE047932, CB162574, DB458800, X91148
      Consensus CDS
      CCDS75169.1
      UniProtKB/Swiss-Prot
      P55157
      UniProtKB/TrEMBL
      B7Z7X3, E9PBP6
      Related
      ENSP00000427679, OTTHUMP00000220444, ENST00000511045, OTTHUMT00000365448
      Conserved Domains (1) summary
      pfam01347
      Location:55611
      Vitellogenin_N; Lipoprotein amino terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      99564078..99623997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      100461708..100521565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)