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

Gene ID: 4547, updated on 8-Dec-2018

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
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

Genomic context

See MTTP in Genome Data Viewer
Location:
4q23
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 chromosome 4 open reading frame 54 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Abetalipoproteinaemia
MedGen: C0000744 OMIM: 200100 GeneReviews: Abetalipoproteinemia
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

Pathways from BioSystems

  • 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...
  • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
    Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
  • 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...
  • VLDL biosynthesis, organism-specific biosystem (from REACTOME)
    VLDL biosynthesis, organism-specific biosystemVery low-density lipoprotein (VLDL) is synthesised in the liver in two steps. First, apolipoprotein B-100 (APOB-100) is co- and post-translationally lipidated in the rough ER lumen. After transfer to...
  • VLDL interactions, organism-specific biosystem (from REACTOME)
    VLDL interactions, organism-specific biosystemVery-low-density lipoprotein (VLDL) is a lipoprotein made by the liver (Gibbons et al. 2004) and is one of the five major groups of lipoproteins (chylomicrons, VLDL, LDL, IDL and HDL) that enable fat...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chylomicron assembly TAS
Traceable Author Statement
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
lipoprotein metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
plasma lipoprotein particle assembly IDA
Inferred from Direct Assay
more info
PubMed 
protein secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
triglyceride transport IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
very-low-density lipoprotein particle assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000400821.1, ENST00000457717.5
    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
    ENSP00000427679.1, ENST00000511045.5
    Conserved Domains (1) summary
    pfam01347
    Location:55611
    Vitellogenin_N; Lipoprotein amino terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

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