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

Gene ID: 4547, updated on 16-Aug-2021

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
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Genomic context

See MTTP in Genome Data Viewer
Location:
4q23
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99564130..99623997)
105.20201022 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 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
GeneReviews: Not available
Abetalipoproteinaemia
MedGen: C0000744 OMIM: 200100 GeneReviews: Abetalipoproteinemia
not available
Metabolic syndrome X
MedGen: C0524620 OMIM: 605552 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC149819, MGC149820

Gene Ontology Provided by GOA

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
PubMed 
involved_in chylomicron assembly TAS
Traceable Author Statement
more info
 
involved_in circadian rhythm 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
PubMed 
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 lipidation IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
PubMed 
located_in brush border membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
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)

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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_000253.4NP_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
    P55157
    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
    CCDS75169.1
    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
    Related
    ENSP00000265517.5, ENST00000265517.10
    Conserved Domains (1) summary
    cl26969
    Location:28584
    Vitellogenin_N; Lipoprotein amino terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    99564130..99623997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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