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

    Gene ID: 4547, updated on 23-Nov-2023

    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; 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
    NEW
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    Try the new Transcript table

    Genomic context

    See MTTP in Genome Data Viewer
    Location:
    4q23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99564130..99623997)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102878899..102939426)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_000253.4NP_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:28584
      Vitellogenin_N; Lipoprotein amino terminal region
    2. NM_001300785.2NP_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:1501
      Vitellogenin_N; Lipoprotein amino terminal region
    3. NM_001386140.1NP_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:28584
      Vitellogenin_N; Lipoprotein amino terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)