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Entry version 168 (13 Feb 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Microsomal triglyceride transfer protein large subunit

Gene

MTTP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:23475612, PubMed:8939939, PubMed:26224785, PubMed:25108285, PubMed:22236406). Required for the secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:23475612, PubMed:8939939, PubMed:26224785).5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • cholesterol homeostasis Source: GO_Central
  • chylomicron assembly Source: Reactome
  • lipid metabolic process Source: ProtInc
  • lipoprotein metabolic process Source: GO_Central
  • phospholipid transport Source: UniProtKB
  • plasma lipoprotein particle assembly Source: UniProtKB
  • protein secretion Source: BHF-UCL
  • triglyceride transport Source: UniProtKB
  • very-low-density lipoprotein particle assembly Source: Reactome

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processLipid transport, Transport
LigandLipid-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8866423 VLDL assembly
R-HSA-8963888 Chylomicron assembly

SIGNOR Signaling Network Open Resource

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SIGNORi
P55157

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000411

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Microsomal triglyceride transfer protein large subunit
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MTTP
Synonyms:MTP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000138823.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7467 MTTP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
157147 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P55157

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Abetalipoproteinemia (ABL)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:200100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_074553169D → V in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with APOB; inhibits interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 1 Publication1
Natural variantiVAR_074554264G → R in ABL; unknown pathological significance; does not reduce interaction with P4HB/PDI and APOB; does not reduce triglyceride transfer activity. 1 PublicationCorresponds to variant dbSNP:rs1367079155Ensembl.1
Natural variantiVAR_074555435L → H in ABL; no loss on localization to the endoplasmic reticulum; inhibits triglyceride transfer activity. 1 Publication1
Natural variantiVAR_074556528Y → H in ABL; does not reduce interaction with P4HB/PDI and APOB; inhibits triglyceride transfer activity. 1 PublicationCorresponds to variant dbSNP:rs1485375137Ensembl.1
Natural variantiVAR_074557540R → C in ABL; does not reduce interaction with P4HB/PDI and APOB; inhibits triglyceride transfer activity. 1 PublicationCorresponds to variant dbSNP:rs372321643Ensembl.1
Natural variantiVAR_010642540R → H in ABL; no loss on localization to the endoplasmic reticulum; reduces interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 4 PublicationsCorresponds to variant dbSNP:rs199422220EnsemblClinVar.1
Natural variantiVAR_010643590S → I in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 2 PublicationsCorresponds to variant dbSNP:rs199422222EnsemblClinVar.1
Natural variantiVAR_074558649N → S in ABL; unknown pathological significance; does not reduce interaction with P4HB/PDI and APOB; reduces triglyceride transfer activity. 1 Publication1
Natural variantiVAR_010644746G → E in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 2 PublicationsCorresponds to variant dbSNP:rs767833468Ensembl.1
Natural variantiVAR_014019780N → Y in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 2 PublicationsCorresponds to variant dbSNP:rs199422221EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi169D → E: No loss on localization to the endoplasmic reticulum and does not reduce interaction with APOB or P4HB/PDI, does partially reduce phospholipid or triglyceride transfer activity and apolipoprotein B secretion. 1 Publication1
Mutagenesisi187K → L: No loss on localization to the endoplasmic reticulum and does not reduce interaction with APOB, but inhibits interaction with P4HB/PDI, phospholipid or triglyceride transfer activity and apolipoprotein B secretion. 1 Publication1
Mutagenesisi187K → R: No loss on localization to the endoplasmic reticulum, does not reduce interaction with APOB or P4HB/PDI, partially inhibits triglyceride transfer activity, does not inhibit phospholipid transfer activity and apolipoprotein B secretion. 1 Publication1
Mutagenesisi189K → L: No loss on localization to the endoplasmic reticulum and does not reduce interaction with APOB, but inhibits interaction with P4HB/PDI, phospholipid or triglyceride transfer activity and apolipoprotein B secretion. 1 Publication1
Mutagenesisi189K → R: No loss on localization to the endoplasmic reticulum, does not reduce interaction with APOB or P4HB/PDI, partially inhibits triglyceride transfer activity, does not inhibit phospholipid transfer activity and apolipoprotein B secretion. 1 Publication1
Mutagenesisi435L → E: No loss on localization to the endoplasmic reticulum. Inhibits triglyceride transfer activity. 1 Publication1
Mutagenesisi435L → V: No loss on localization to the endoplasmic reticulum. Does not inhibit triglyceride transfer activity. 1 Publication1
Mutagenesisi528Y → F: Does not inhibit triglyceride transfer activity. 1 Publication1
Mutagenesisi528Y → K: Inhibits triglyceride transfer activity. 1 Publication1
Mutagenesisi540R → A: Strongly reduces triglyceride transfer activity. 1 Publication1
Mutagenesisi540R → K: Does not inhibit triglyceride transfer activity and apolipoprotein B secretion. 2 Publications1
Mutagenesisi878C → S: Inhibits triglyceride transfer activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
4547

MalaCards human disease database

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MalaCardsi
MTTP
MIMi200100 phenotype

Open Targets

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OpenTargetsi
ENSG00000138823

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
14 Abetalipoproteinemia
426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164742099

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2569

Drug and drug target database

More...
DrugBanki
DB01094 Hesperetin
DB04852 Implitapide
DB08827 Lomitapide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MTTP

Domain mapping of disease mutations (DMDM)

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DMDMi
1709167

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 18Sequence analysisAdd BLAST18
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004159319 – 894Microsomal triglyceride transfer protein large subunitAdd BLAST876

Keywords - PTMi

Disulfide bond

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P55157

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P55157

MaxQB - The MaxQuant DataBase

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MaxQBi
P55157

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P55157

PeptideAtlas

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PeptideAtlasi
P55157

PRoteomics IDEntifications database

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PRIDEi
P55157

ProteomicsDB human proteome resource

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ProteomicsDBi
56794

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P55157

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P55157

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Liver and small intestine. Also found in ovary, testis and kidney.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Positively regulated by cholesterol and negatively regulated by insulin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138823 Expressed in 94 organ(s), highest expression level in jejunal mucosa

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P55157 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P55157 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051170
HPA054862

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer; heterodimerizes with the protein disulfide isomerase (P4HB/PDI) (PubMed:23475612, PubMed:26224785, PubMed:25108285). Interacts with APOB (PubMed:26224785, PubMed:25108285, PubMed:27206948).4 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110641, 5 interactors

Protein interaction database and analysis system

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IntActi
P55157, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000265517

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P55157

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P55157

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini28 – 659VitellogeninPROSITE-ProRule annotationAdd BLAST632

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4337 Eukaryota
ENOG410YKCW LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000011412

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113688

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG006416

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P55157

KEGG Orthology (KO)

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KOi
K14463

Database of Orthologous Groups

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OrthoDBi
673565at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P55157

TreeFam database of animal gene trees

More...
TreeFami
TF328754

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.20, 1 hit
2.30.230.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR015819 Lipid_transp_b-sht_shell
IPR001747 Lipid_transpt_N
IPR011030 Lipovitellin_superhlx_dom
IPR039988 MTTP
IPR015816 Vitellinogen_b-sht_N

The PANTHER Classification System

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PANTHERi
PTHR13024 PTHR13024, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01347 Vitellogenin_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00638 LPD_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48431 SSF48431, 1 hit
SSF56968 SSF56968, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51211 VITELLOGENIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P55157-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MILLAVLFLC FISSYSASVK GHTTGLSLNN DRLYKLTYST EVLLDRGKGK
60 70 80 90 100
LQDSVGYRIS SNVDVALLWR NPDGDDDQLI QITMKDVNVE NVNQQRGEKS
110 120 130 140 150
IFKGKSPSKI MGKENLEALQ RPTLLHLIHG KVKEFYSYQN EAVAIENIKR
160 170 180 190 200
GLASLFQTQL SSGTTNEVDI SGNCKVTYQA HQDKVIKIKA LDSCKIARSG
210 220 230 240 250
FTTPNQVLGV SSKATSVTTY KIEDSFVIAV LAEETHNFGL NFLQTIKGKI
260 270 280 290 300
VSKQKLELKT TEAGPRLMSG KQAAAIIKAV DSKYTAIPIV GQVFQSHCKG
310 320 330 340 350
CPSLSELWRS TRKYLQPDNL SKAEAVRNFL AFIQHLRTAK KEEILQILKM
360 370 380 390 400
ENKEVLPQLV DAVTSAQTSD SLEAILDFLD FKSDSSIILQ ERFLYACGFA
410 420 430 440 450
SHPNEELLRA LISKFKGSIG SSDIRETVMI ITGTLVRKLC QNEGCKLKAV
460 470 480 490 500
VEAKKLILGG LEKAEKKEDT RMYLLALKNA LLPEGIPSLL KYAEAGEGPI
510 520 530 540 550
SHLATTALQR YDLPFITDEV KKTLNRIYHQ NRKVHEKTVR TAAAAIILNN
560 570 580 590 600
NPSYMDVKNI LLSIGELPQE MNKYMLAIVQ DILRFEMPAS KIVRRVLKEM
610 620 630 640 650
VAHNYDRFSR SGSSSAYTGY IERSPRSAST YSLDILYSGS GILRRSNLNI
660 670 680 690 700
FQYIGKAGLH GSQVVIEAQG LEALIAATPD EGEENLDSYA GMSAILFDVQ
710 720 730 740 750
LRPVTFFNGY SDLMSKMLSA SGDPISVVKG LILLIDHSQE LQLQSGLKAN
760 770 780 790 800
IEVQGGLAID ISGAMEFSLW YRESKTRVKN RVTVVITTDI TVDSSFVKAG
810 820 830 840 850
LETSTETEAG LEFISTVQFS QYPFLVCMQM DKDEAPFRQF EKKYERLSTG
860 870 880 890
RGYVSQKRKE SVLAGCEFPL HQENSEMCKV VFAPQPDSTS SGWF
Length:894
Mass (Da):99,351
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB20260C136BDAB9F
GO
Isoform 2 (identifier: P55157-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     134-151: EFYSYQNEAVAIENIKRG → GRLDSTTFSPTSYFSSLQ
     152-894: Missing.

Note: No experimental confirmation available.
Show »
Length:151
Mass (Da):16,865
Checksum:iF0A042FD95FA8F3A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PBP6E9PBP6_HUMAN
Microsomal triglyceride transfer pr...
MTTP
921Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6REL9D6REL9_HUMAN
Microsomal triglyceride transfer pr...
MTTP
178Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RJG5D6RJG5_HUMAN
Microsomal triglyceride transfer pr...
MTTP
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RHZ9D6RHZ9_HUMAN
Microsomal triglyceride transfer pr...
MTTP
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6R915D6R915_HUMAN
Microsomal triglyceride transfer pr...
MTTP
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RBJ4D6RBJ4_HUMAN
Microsomal triglyceride transfer pr...
MTTP
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6REP9D6REP9_HUMAN
Microsomal triglyceride transfer pr...
MTTP
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAB8D6RAB8_HUMAN
Microsomal triglyceride transfer pr...
MTTP
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti585F → L in CAA42200 (PubMed:8361539).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01401695Q → H1 PublicationCorresponds to variant dbSNP:rs61733139EnsemblClinVar.1
Natural variantiVAR_05296198E → D. Corresponds to variant dbSNP:rs2306986EnsemblClinVar.1
Natural variantiVAR_014017128I → T2 PublicationsCorresponds to variant dbSNP:rs3816873EnsemblClinVar.1
Natural variantiVAR_052962166N → S. Corresponds to variant dbSNP:rs3792683EnsemblClinVar.1
Natural variantiVAR_022658168V → I Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs61750974EnsemblClinVar.1
Natural variantiVAR_074553169D → V in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with APOB; inhibits interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 1 Publication1
Natural variantiVAR_014018244Q → E1 PublicationCorresponds to variant dbSNP:rs17599091EnsemblClinVar.1
Natural variantiVAR_074554264G → R in ABL; unknown pathological significance; does not reduce interaction with P4HB/PDI and APOB; does not reduce triglyceride transfer activity. 1 PublicationCorresponds to variant dbSNP:rs1367079155Ensembl.1
Natural variantiVAR_010640297H → Q Polymorphism; does not inhibit apolipoprotein B secretion. 3 PublicationsCorresponds to variant dbSNP:rs2306985EnsemblClinVar.1
Natural variantiVAR_010641384D → A Polymorphism; no loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; reduces phospholipid or triglyceride transfer activity; does not inhibit apolipoprotein B secretion. 2 PublicationsCorresponds to variant dbSNP:rs17029215EnsemblClinVar.1
Natural variantiVAR_074555435L → H in ABL; no loss on localization to the endoplasmic reticulum; inhibits triglyceride transfer activity. 1 Publication1
Natural variantiVAR_074556528Y → H in ABL; does not reduce interaction with P4HB/PDI and APOB; inhibits triglyceride transfer activity. 1 PublicationCorresponds to variant dbSNP:rs1485375137Ensembl.1
Natural variantiVAR_074557540R → C in ABL; does not reduce interaction with P4HB/PDI and APOB; inhibits triglyceride transfer activity. 1 PublicationCorresponds to variant dbSNP:rs372321643Ensembl.1
Natural variantiVAR_010642540R → H in ABL; no loss on localization to the endoplasmic reticulum; reduces interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 4 PublicationsCorresponds to variant dbSNP:rs199422220EnsemblClinVar.1
Natural variantiVAR_010643590S → I in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 2 PublicationsCorresponds to variant dbSNP:rs199422222EnsemblClinVar.1
Natural variantiVAR_074558649N → S in ABL; unknown pathological significance; does not reduce interaction with P4HB/PDI and APOB; reduces triglyceride transfer activity. 1 Publication1
Natural variantiVAR_010644746G → E in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 2 PublicationsCorresponds to variant dbSNP:rs767833468Ensembl.1
Natural variantiVAR_014019780N → Y in ABL; no loss on localization to the endoplasmic reticulum; does not reduce interaction with P4HB/PDI; inhibits phospholipid or triglyceride transfer activity; inhibits apolipoprotein B secretion. 2 PublicationsCorresponds to variant dbSNP:rs199422221EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056325134 – 151EFYSY…NIKRG → GRLDSTTFSPTSYFSSLQ in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_056326152 – 894Missing in isoform 2. 1 PublicationAdd BLAST743

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X75500 mRNA Translation: CAA53217.1
X59657 mRNA Translation: CAA42200.1
X83013
, X83014, X83015, X83016, X83017, X83018, X83019, X83020, X83021, X83022, X83023, X83024, X83025, X83026, X83027, X83028, X83029, X83030 Genomic DNA Translation: CAA58142.1
AK290793 mRNA Translation: BAF83482.1
AC083902 Genomic DNA No translation available.
BC062696 mRNA Translation: AAH62696.1
BC125110 mRNA Translation: AAI25111.1
BC125111 mRNA Translation: AAI25112.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3651.1 [P55157-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I38047

NCBI Reference Sequences

More...
RefSeqi
NP_000244.2, NM_000253.3 [P55157-1]
NP_001287714.1, NM_001300785.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.195799

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265517; ENSP00000265517; ENSG00000138823 [P55157-1]
ENST00000422897; ENSP00000407350; ENSG00000138823 [P55157-2]
ENST00000457717; ENSP00000400821; ENSG00000138823 [P55157-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4547

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4547

UCSC genome browser

More...
UCSCi
uc003hvb.4 human [P55157-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X75500 mRNA Translation: CAA53217.1
X59657 mRNA Translation: CAA42200.1
X83013
, X83014, X83015, X83016, X83017, X83018, X83019, X83020, X83021, X83022, X83023, X83024, X83025, X83026, X83027, X83028, X83029, X83030 Genomic DNA Translation: CAA58142.1
AK290793 mRNA Translation: BAF83482.1
AC083902 Genomic DNA No translation available.
BC062696 mRNA Translation: AAH62696.1
BC125110 mRNA Translation: AAI25111.1
BC125111 mRNA Translation: AAI25112.1
CCDSiCCDS3651.1 [P55157-1]
PIRiI38047
RefSeqiNP_000244.2, NM_000253.3 [P55157-1]
NP_001287714.1, NM_001300785.1
UniGeneiHs.195799

3D structure databases

ProteinModelPortaliP55157
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110641, 5 interactors
IntActiP55157, 2 interactors
STRINGi9606.ENSP00000265517

Chemistry databases

BindingDBiP55157
ChEMBLiCHEMBL2569
DrugBankiDB01094 Hesperetin
DB04852 Implitapide
DB08827 Lomitapide
SwissLipidsiSLP:000000411

PTM databases

iPTMnetiP55157
PhosphoSitePlusiP55157

Polymorphism and mutation databases

BioMutaiMTTP
DMDMi1709167

Proteomic databases

EPDiP55157
jPOSTiP55157
MaxQBiP55157
PaxDbiP55157
PeptideAtlasiP55157
PRIDEiP55157
ProteomicsDBi56794

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265517; ENSP00000265517; ENSG00000138823 [P55157-1]
ENST00000422897; ENSP00000407350; ENSG00000138823 [P55157-2]
ENST00000457717; ENSP00000400821; ENSG00000138823 [P55157-1]
GeneIDi4547
KEGGihsa:4547
UCSCiuc003hvb.4 human [P55157-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4547
DisGeNETi4547
EuPathDBiHostDB:ENSG00000138823.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MTTP
HGNCiHGNC:7467 MTTP
HPAiHPA051170
HPA054862
MalaCardsiMTTP
MIMi157147 gene
200100 phenotype
neXtProtiNX_P55157
OpenTargetsiENSG00000138823
Orphaneti14 Abetalipoproteinemia
426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia
PharmGKBiPA164742099

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4337 Eukaryota
ENOG410YKCW LUCA
GeneTreeiENSGT00390000011412
HOGENOMiHOG000113688
HOVERGENiHBG006416
InParanoidiP55157
KOiK14463
OrthoDBi673565at2759
PhylomeDBiP55157
TreeFamiTF328754

Enzyme and pathway databases

ReactomeiR-HSA-8866423 VLDL assembly
R-HSA-8963888 Chylomicron assembly
SIGNORiP55157

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MTTP human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Microsomal_triglyceride_transfer_protein

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4547

Protein Ontology

More...
PROi
PR:P55157

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138823 Expressed in 94 organ(s), highest expression level in jejunal mucosa
ExpressionAtlasiP55157 baseline and differential
GenevisibleiP55157 HS

Family and domain databases

Gene3Di1.25.10.20, 1 hit
2.30.230.10, 1 hit
InterProiView protein in InterPro
IPR015819 Lipid_transp_b-sht_shell
IPR001747 Lipid_transpt_N
IPR011030 Lipovitellin_superhlx_dom
IPR039988 MTTP
IPR015816 Vitellinogen_b-sht_N
PANTHERiPTHR13024 PTHR13024, 1 hit
PfamiView protein in Pfam
PF01347 Vitellogenin_N, 1 hit
SMARTiView protein in SMART
SM00638 LPD_N, 1 hit
SUPFAMiSSF48431 SSF48431, 1 hit
SSF56968 SSF56968, 1 hit
PROSITEiView protein in PROSITE
PS51211 VITELLOGENIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMTP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P55157
Secondary accession number(s): A8K428, Q08AM4, Q6P5T3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: February 13, 2019
This is version 168 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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