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

Gene ID: 4547, updated on 26-Aug-2014
Official Symbol
MTTPprovided by HGNC
Official Full Name
microsomal triglyceride transfer proteinprovided by HGNC
Primary source
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]
See MTTP in Epigenomics, MapViewer
Location:
4q24
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (99564083..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 10 homolog A (S. cerevisiae) Neighboring gene uncharacterized LOC285556 Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3

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
apolipoprotein binding IEA
Inferred from Electronic Annotation
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
lipid transporter activity TAS
Traceable Author Statement
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
lipoprotein metabolic process TAS
Traceable Author Statement
more info
 
lipoprotein transport IEA
Inferred from Electronic Annotation
more info
 
protein lipidation IEA
Inferred from Electronic Annotation
more info
 
response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
membrane-bounded vesicle IEA
Inferred from Electronic Annotation
more info
 
microvillus membrane IEA
Inferred from Electronic Annotation
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
microsomal triglyceride transfer protein large subunit
Names
microsomal triglyceride transfer protein large subunit
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 

    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 proteins identical to 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
    Blast Score: 739
    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
    Conserved Domains (1) summary
    pfam01347
    Location:55611
    Blast Score: 743
    Vitellogenin_N; Lipoprotein amino terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    99564083..99623997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263025.1XP_005263082.1  

    UniProtKB/TrEMBL
    E9PBP6
    Related
    ENSP00000427679, OTTHUMP00000220444, ENST00000511045, OTTHUMT00000365448
    Conserved Domains (1) summary
    pfam01347
    Location:55611
    Blast Score: 743
    Vitellogenin_N; Lipoprotein amino terminal region

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    96223283..96283485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    100461713..100521565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)