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MTTP Gene

protein-coding   GIFtS: 60
GCID: GC04P100485

Microsomal Triglyceride Transfer Protein

(Previous names: microsomal triglyceride transfer protein (large polypeptide,...)
(Previous symbol: MTP)
  See MTTP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Microsomal Triglyceride Transfer Protein1 2
MTP1 2 3 5
Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kDa)1 2
Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kD)1
ABL2
Microsomal Triglyceride Transfer Protein Large Subunit2

External Ids:    HGNC: 74671   Entrez Gene: 45472   Ensembl: ENSG000001388237   OMIM: 1571475   UniProtKB: P551573   

Export aliases for MTTP gene to outside databases

Previous GC identifers: GCMTU990051 GC04P100854 GC04P100715 GC04P096223


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MTTP Gene:
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)

GeneCards Summary for MTTP Gene:
MTTP (microsomal triglyceride transfer protein) is a protein-coding gene. Diseases associated with MTTP include abetalipoproteinemia, and hypobetalipoproteinemia. GO annotations related to this gene include lipid transporter activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot: MTP_HUMAN, P55157
Function: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid
surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B

Gene Wiki entry for MTTP (Microsomal triglyceride transfer protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MTTP gene promoter:
         C/EBPbeta   AML1a   MyoD   POU6F1 (c2)   GATA-1   AREB6   RORalpha1   FOXC1   c-Myb   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTTP promoter sequence
   Search Chromatin IP Primers for MTTP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MTTP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q23   HGNC cytogenetic band: 4q24

MTTP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTTP gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P100485:  view genomic region     (about GC identifiers)

Start:
100,484,918 bp from pter      End:
100,545,156 bp from pter
Size:
60,239 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MTP_HUMAN, P55157 (See protein sequence)
Recommended Name: Microsomal triglyceride transfer protein large subunit precursor  
Size: 894 amino acids; 99351 Da
Subunit: Heterodimer composed of MTTP and of protein disulfide isomerase (P4HB/PDI) (By similarity)
Secondary accessions: A8K428 Q08AM4

Explore the universe of human proteins at neXtProt for MTTP: NX_P55157

Explore proteomics data for MTTP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MTTP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000244.2  
    ENSEMBL proteins: 
     ENSP00000424972   ENSP00000425987   ENSP00000426755   ENSP00000425642   ENSP00000422667  
     ENSP00000422178   ENSP00000422782   ENSP00000427679   ENSP00000265517   ENSP00000407350  
     ENSP00000400821  
    Reactome Protein details: P55157

    MTTP Human Recombinant Protein Products:

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    Novus Biologicals MTTP Proteins
    Novus Biologicals MTTP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTTP

     
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    antibodies-online proteins for MTTP (4 products) 

     
    antibodies-online peptides for MTTP

    MTTP Antibody Products:

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    antibodies-online antibodies for MTTP (36 products) 

    MTTP Assay Products:

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    Cloud-Clone Corp. ELISAs for MTTP
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    antibodies-online kits for MTTP (18 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR015819 Lipid_transp_b-sht_shell
     IPR011030 Vitellinogen_superhlx
     IPR001747 Lipid_transpt_N
     IPR015816 Vitellinogen_b-sht_N

    Graphical View of Domain Structure for InterPro Entry P55157

    ProtoNet protein and cluster: P55157

    1 Blocks protein domain: IPB001747 Lipid transport protein

    UniProtKB/Swiss-Prot: MTP_HUMAN, P55157
    Similarity: Contains 1 vitellogenin domain


    Find genes that share domains with MTTP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTP_HUMAN, P55157
    Function: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid
    surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B
    Induction: Positively regulated by cholesterol and negatively regulated by insulin

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity TAS--
    GO:0005515protein binding ----
    GO:0008289lipid binding IEA--
    GO:0034185apolipoprotein binding IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    Find genes that share ontologies with MTTP           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mttp):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  liver/biliary system  mortality/aging  nervous system 

    Find genes that share phenotypes with MTTP           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MTTP

    miRNA
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    Block miRNA regulation of human, mouse, rat MTTP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MTTP (see all 16):
    hsa-miR-411* hsa-miR-30c hsa-miR-379* hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-30d hsa-miR-30a hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidMTTP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MTTP

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTP_HUMAN, P55157: Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular3
    golgi apparatus2
    peroxisome2
    plasma membrane2
    cytosol1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005791rough endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0016323basolateral plasma membrane IEA--

    Find genes that share ontologies with MTTP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MTTP About    
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Lipoprotein metabolism
    Lipoprotein metabolism0.59
    Chylomicron-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Fat digestion and absorption
    Fat digestion and absorption


    Find genes that share SuperPaths with MTTP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MTTP
        Statin Pathway

    1 Reactome Pathway for MTTP
        Chylomicron-mediated lipid transport

    1 PharmGKB Pathway for MTTP
        Statin Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for MTTP):
        Fat digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Array including MTTP: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MTTP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for MTTP (P551573 ENSP000002655174) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOBP041143, ENSP000002332424I2D: score=2 STRING: ENSP00000233242
    ACTN4O437073, ENSP000002526994I2D: score=1 STRING: ENSP00000252699
    VIL1P093273, ENSP000002484444I2D: score=1 STRING: ENSP00000248444
    HSP90B1P146253, ENSP000002997674I2D: score=1 STRING: ENSP00000299767
    P4HBP072373, ENSP000003278014I2D: score=1 STRING: ENSP00000327801
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006497protein lipidation IEA--
    GO:0006629lipid metabolic process TAS1439810
    GO:0006641triglyceride metabolic process IEA--
    GO:0006869lipid transport ----
    GO:0042157lipoprotein metabolic process TAS--

    Find genes that share ontologies with MTTP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MTTP (MTP)

    Selected HMDB Compounds for MTTP (see all 290)    About this table
    CompoundSynonyms CAS #PubMed Ids
    TG(15:0/16:0/20:2(11Z,14Z))[iso6]Tracylglycerol(15:0/16:0/20:2) (see all 15)--12486725
    TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:3n6) (see all 16)--12486725
    TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]TAG(15:0/16:0/20:4n6) (see all 15)--12486725
    TG(15:0/18:0/18:2(9Z,12Z))[iso6]TG(15:0/18:0/18:2w6) (see all 15)--12486725
    TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]TAG(51:3) (see all 16)--12486725
    TG(15:0/18:1(9Z)/16:0)[iso6]Tracylglycerol(15:0/18:1w9/16:0) (see all 15)--12486725
    TG(15:0/18:1(9Z)/16:1(9Z))[iso6]TG(15:0/18:1/16:1) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:1(9Z))[iso3]TG(15:0/18:1n9/18:1n9) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6]Tracylglycerol(15:0/18:1/18:2) (see all 15)--12486725
    TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]Tracylglycerol(15:0/18:1/18:3) (see all 16)--12486725

    2 DrugBank Compounds for MTTP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HesperetinCyanidanon 4'-Methyl Ether 1626 (see all 3)520-33-2targetantagonist11352979
    LomitapideAEGR-773 (see all 3)202914-84-9targetantagonist--

    Selected Novoseek inferred chemical compound relationships for MTTP gene (see all 47)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mttp 93.6 73 17854051 (8), 16617174 (6), 16518588 (6), 18697801 (5) (see all 13)
    hmtp 83.4 13 15547294 (2), 16226723 (2)
    n-acetylleucylleucylnorleucinal 82.8 2 10092635 (1), 8626595 (1)
    lipovitellin 81.9 10 11264986 (3), 10893406 (1), 17002280 (1), 12700048 (1) (see all 6)
    lipid 72.8 221 7803401 (10), 10893406 (7), 11358959 (5), 10769147 (5) (see all 91)
    oleic acid 70.2 34 9139669 (5), 15723548 (4), 11254482 (2), 9651381 (2) (see all 14)
    sterol 68.7 29 10455139 (4), 16183064 (2), 19054139 (1), 9831631 (1) (see all 13)
    cholesterol 68.7 67 18502767 (3), 20405839 (3), 10894817 (2), 11792722 (2) (see all 41)
    triacylglycerol 67.8 39 9139669 (6), 8621500 (2), 10216282 (2), 9875061 (2) (see all 17)
    ezetimibe 64 4 18506154 (2), 12396226 (1)

    2 PharmGKB related drug/compound annotations for MTTP gene    About this table
    Drug/compound PharmGKB Annotation
    atorvastatinCA  
    pravastatinCA  



    Find genes that share compounds with MTTP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MTTP gene: 
    NM_000253.2  

    Unigene Cluster for MTTP:

    Microsomal triglyceride transfer protein
    Hs.195799  [show with all ESTs]
    Unigene Representative Sequence: NM_000253
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513404 ENST00000505142 ENST00000506883 ENST00000515141 ENST00000504724
    ENST00000511610 ENST00000505094 ENST00000511045 ENST00000265517 ENST00000422897(uc003hvb.3)
    ENST00000457717(uc003hvc.4 uc011cej.2)
    miRNA
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    hsa-miR-411* hsa-miR-30c hsa-miR-379* hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-30d hsa-miR-30a hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidMTTP 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat MTTP

    Additional mRNA sequence: 

    AK225328.1 AK290793.1 AK302602.1 BC062696.1 BC125110.1 BC125111.1 X59657.1 X75500.1 
    X91148.1 

    4 DOTS entries:

    DT.213909  DT.40277941  DT.121240002  DT.121239989 

    Selected AceView cDNA sequences (see all 54):

    X75500 AI431738 AI623321 AA693786 X59657 AA421238 BE047932 BX483526 
    CR596497 AI262113 AI863182 AL531127 X91148 N51199 W01491 BX410109 
    N41015 AA609331 AA676269 AL563954 AA677554 AU076812 AW611586 BX494699 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MTTP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MTTP Expression
    About this image


    MTTP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     NULL (Uncategorized)
             DKK1-induced cells
    MTTP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTTP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.195799

    UniProtKB/Swiss-Prot: MTP_HUMAN, P55157
    Tissue specificity: Liver and small intestine. Also found in ovary, testis and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including MTTP: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTTP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MTTP gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mttp1 , 5 microsomal triglyceride transfer protein1, 5 84.55(n)1
    86(a)1
      3 (64.06 cM)5
    177771  NM_008642.21  NP_032668.21 
     1380898555 
    chicken
    (Gallus gallus)
    Aves MTTP1 microsomal triglyceride transfer protein 69.5(n)
    66.97(a)
      422709  NM_001109784.1  NP_001103254.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTTP6
    microsomal triglyceride transfer protein
    65(a)
    1 ↔ 1
    GL343323.1(1155211-1189350)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004874531 microsomal triglyceride transfer protein large subunit-like 64.87(n)
    61.81(a)
      100487453  XM_002934767.2  XP_002934813.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.197532 Danio rerio mRNA for putative microsomal triglyceride more 75.33(n)    AJ428850.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mtp1 Microsomal triacylglycerol transfer protein 41.03(n)
    28(a)
      35362  NM_136231.4  NP_610075.2 


    ENSEMBL Gene Tree for MTTP (if available)
    TreeFam Gene Tree for MTTP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MTTP (see all 1215)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0106444
    Abetalipoproteinemia (ABL)4--see VAR_0106442 G E mis40--------
    VAR_0140194
    Abetalipoproteinemia (ABL)4--see VAR_0140192 N Y mis40--------
    VAR_0106434
    Abetalipoproteinemia (ABL)4--see VAR_0106432 S I mis40--------
    VAR_0106424
    Abetalipoproteinemia (ABL)4--see VAR_0106422 R H mis40--------
    rs1994222201,2
    Cpathogenic1100331927(+) TGTGCA/GCACTG 2 H R mis10--------
    rs1994222221,2
    Cpathogenic1100332077(+) TGCAAG/TGTATA 2 S I mis10--------
    rs1994222191,2
    Cpathogenic1100334256(+) TCCGTC/TGAGTT 2 R * stg10--------
    rs1994222211,2
    Cpathogenic1100342195(+) TGAAAA/TATAGG 2 N Y mis10--------
    rs1460647141,2
    Cpathogenic1100345857(+) TAGCAG/TGATGT 2 G * stg11Minor allele frequency- T:0.00NA 4550
    rs38168731,2,,4
    C,F,Hother1100306618(+) TCTAAT/CCCATG 2 /T /I mis1 ese333Minor allele frequency- C:0.24EA NA NS WA CSA EU 10156

    HapMap Linkage Disequilibrium report for MTTP (100484918 - 100545156 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MTTP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728037CNV Deletion23290073
    esv2488524CNV Insertion19546169
    nsv512831CNV Insertion21212237
    esv1240378CNV Insertion17803354
    nsv289933CNV Loss16902084
    nsv879656CNV Gain21882294

    Human Gene Mutation Database (HGMD): MTTP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MTTP
    DNA2.0 Custom Variant and Variant Library Synthesis for MTTP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 157147   
    OMIM disorders: 200100  605552  
    UniProtKB/Swiss-Prot: MTP_HUMAN, P55157
  • Abetalipoproteinemia (ABL) [MIM:200100]: An autosomal recessive disorder of lipoprotein metabolism.
    Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons,
    VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and
    retinal degeneration. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for MTTP:    
    About MalaCards
    abetalipoproteinemia    hypobetalipoproteinemia    chylomicron retention disease    hypobetalipoproteinemia, familial, 2
    steatorrhea    3-hydroxyacyl-coa dehydrogenase deficiency    sitosterolemia    hypercholesterolemia

    3 diseases from the University of Copenhagen DISEASES database for MTTP:
    Abetalipoproteinemia     Fatty liver disease     Hypobetalipoproteinemia

    Find genes that share disorders with MTTP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MTTP gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    abetalipoproteinemia 95.6 63 10446076 (2), 8044420 (2), 15910857 (2), 1439810 (2) (see all 36)
    hypobetalipoproteinemia 74.1 2 15910857 (1), 14732481 (1)
    fatty liver 69.1 13 19262398 (2), 20178560 (2), 19018985 (1), 20139103 (1) (see all 9)
    malabsorption 55.8 3 9686820 (1), 19056372 (1), 19066957 (1)
    dyslipidemia 54 8 12775233 (3), 17700364 (1), 12716735 (1), 16721486 (1)
    vitamin deficiency 52.1 1 19066957 (1)
    hypertriglyceridemia 48.3 2 9717061 (1), 16651714 (1)
    steatorrhea 48.2 1 9686820 (1)
    insulin resistance 47.9 9 15723548 (2), 18497882 (1), 12048212 (1), 17547292 (1)
    coronary heart disease 45.4 4 16328015 (1), 9831631 (1), 16617174 (1)

    Genetic Association Database (GAD): MTTP
    Human Genome Epidemiology (HuGE) Navigator: MTTP (59 documents)

    Export disorders for MTTP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MTTP gene, integrated from 10 sources (see all 373):
    (articles sorted by number of sources associating them with MTTP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index. (PubMed id 11792722)1, 2, 4, 9 Ledmyr H....Ehrenborg E. (J. Lipid Res. 2002)
    2. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. (PubMed id 8111381)1, 2, 3, 9 Shoulders C.C.... Scott J. (Hum. Mol. Genet. 1993)
    3. Association of a microsomal triglyceride transfer protein gene polymorphism with blood pressure in Japanese women. (PubMed id 16328015)1, 4, 9 Yamada Y....Shimokata H. (Int. J. Mol. Med. 2006)
    4. No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. (PubMed id 15911777)1, 4, 9 Nebel A....Schreiber S. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    5. Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. (PubMed id 10679949)1, 2, 9 Wang J. and Hegele R.A. (Hum. Mutat. 2000)
    6. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. (PubMed id 8533758)1, 2, 9 Narcisi T.M.E.... Scott J. (Am. J. Hum. Genet. 1995)
    7. Human microsomal triglyceride transfer protein large subunit gene structure. (PubMed id 7545943)1, 2, 9 Sharp D.... Wetterau J.R. (Biochemistry 1994)
    8. MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort. (PubMed id 18951054)1, 4, 9 BAPhme M....DAPring F. (Mol. Genet. Metab. 2008)
    9. Molecular screening of the microsomal triglyceride transfer protein: association between polymorphisms and both abdominal obesity and plasma apolipoprotein B concentration. (PubMed id 15635487)1, 4, 9 Berthier M.T....Vohl M.C. (J. Hum. Genet. 2004)
    10. Polymorphisms of microsomal triglyceride transfer protein gene and manganese superoxide dismutase gene in non-alcoholic steatohepatitis. (PubMed id 15094225)1, 4, 9 Namikawa C....Onishi S. (J. Hepatol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4547 HGNC: 7467 AceView: MTP Ensembl:ENSG00000138823 euGenes: HUgn4547
    ECgene: MTTP Kegg: 4547 H-InvDB: MTTP

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MTTP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MTTP Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MTTP gene:
    Search GeneIP for patents involving MTTP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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