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UniProtKB - P04114 (APOB_HUMAN)

Entry version 239 (10 Feb 2021)
Sequence version 2 (13 Jul 2010)
Previous versions | rss
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Protein

Apolipoprotein B-100

Gene

APOB

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

Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionHeparin-binding
Biological processCholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P04114

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-202733, Cell surface interactions at the vascular wall
R-HSA-3000471, Scavenging by Class B Receptors
R-HSA-3000480, Scavenging by Class A Receptors
R-HSA-3000484, Scavenging by Class F Receptors
R-HSA-3000497, Scavenging by Class H Receptors
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-432142, Platelet sensitization by LDL
R-HSA-5686938, Regulation of TLR by endogenous ligand
R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis
R-HSA-8866423, VLDL assembly
R-HSA-8957275, Post-translational protein phosphorylation
R-HSA-8963888, Chylomicron assembly
R-HSA-8963901, Chylomicron remodeling
R-HSA-8964026, Chylomicron clearance
R-HSA-8964038, LDL clearance
R-HSA-8964041, LDL remodeling
R-HSA-8964046, VLDL clearance
R-HSA-975634, Retinoid metabolism and transport

SIGNOR Signaling Network Open Resource

More...SIGNORi		P04114

<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%5Fand%5Ftaxonomy%5Fsection">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:
Apolipoprotein B-100
Short name:
Apo B-100
Cleaved into the following chain:
Apolipoprotein B-48
Short name:
Apo B-48
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:APOB
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:603, APOB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		107730, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P04114

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000084674.13

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chylomicron, Cytoplasm, LDL, Lipid droplet, Secreted, VLDL

<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

Hypobetalipoproteinemia, familial, 1 (FHBL1)3 Publications
The disease is caused by variants affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844).1 Publication
Disease descriptionA disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia.
Related information in OMIM
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_022610490R → W in FHBL1; reduced protein secretion. 1 PublicationCorresponds to variant dbSNP:rs771541567Ensembl.1
Natural variantiVAR_076539952V → L in FHBL1; unknown pathological significance; does not affect interaction with MTTP. 1 Publication1
Hypercholesterolemia, familial, 2 (FHCL2)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0050253527R → Q in FHCL2. 3 PublicationsCorresponds to variant dbSNP:rs5742904Ensembl.1
Natural variantiVAR_0050263558R → C in FHCL2. 2 PublicationsCorresponds to variant dbSNP:rs12713559Ensembl.1
Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi483D → N: Impairs protein secretion. 1 Publication1
Mutagenesisi483D → Q: Does not affect protein secretion. 1 Publication1
Mutagenesisi490R → A: Impairs protein secretion. 1 Publication1
Mutagenesisi490R → K: Does not affect protein secretion. 1 Publication1

Keywords - Diseasei

Atherosclerosis, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		338

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		APOB

MalaCards human disease database

More...MalaCardsi		APOB
MIMi144010, phenotype
615558, phenotype

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

More...Orphaneti		391665, Homozygous familial hypercholesterolemia
426, NON RARE IN EUROPE: Familial hypobetalipoproteinemia
406, NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA50

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P04114, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4549

Drug and drug target database

More...DrugBanki		DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		APOB

Domain mapping of disease mutations (DMDM)

More...DMDMi		300669605

<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 – 27Add BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002075028 – 4563Apolipoprotein B-100Add BLAST4536
ChainiPRO_000002075128 – 2179Apolipoprotein B-48Add BLAST2152

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi34N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi39 ↔ 88PROSITE-ProRule annotation1 Publication
Disulfide bondi78 ↔ 97PROSITE-ProRule annotation1 Publication
Glycosylationi185N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi186 ↔ 212PROSITE-ProRule annotation1 Publication
Disulfide bondi245 ↔ 261PROSITE-ProRule annotation1 Publication
Disulfide bondi385 ↔ 390PROSITE-ProRule annotation1 Publication
Disulfide bondi478 ↔ 513PROSITE-ProRule annotation1 Publication
Disulfide bondi966 ↔ 976PROSITE-ProRule annotation1 Publication
Glycosylationi983N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi1112S-palmitoyl cysteine1 Publication1
Glycosylationi1368N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1377N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1523N-linked (GlcNAc...) asparagine2 Publications1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2004N6-acetyllysineCombined sources1
Glycosylationi2239N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi2560N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2779N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi2982N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi3101N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi3194 ↔ 3324PROSITE-ProRule annotation1 Publication
Glycosylationi3224N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei3279PhosphoserineCombined sources1
Glycosylationi3336N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi3358N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi3411N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi3465N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi3895N-linked (GlcNAc...) asparagine2 Publications1
Modified residuei4048Phosphoserine; by FAM20CCombined sources1 Publication1
Modified residuei4052PhosphothreonineCombined sources1
Glycosylationi4237N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi4431N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1299
CPTAC-1300
CPTAC-2205
CPTAC-652
CPTAC-653
non-CPTAC-1080
non-CPTAC-1081
non-CPTAC-1082

Encyclopedia of Proteome Dynamics

More...EPDi		P04114

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P04114

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P04114

MaxQB - The MaxQuant DataBase

More...MaxQBi		P04114

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

More...PaxDbi		P04114

PeptideAtlas

More...PeptideAtlasi		P04114

PRoteomics IDEntifications database

More...PRIDEi		P04114

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51654

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P04114

GlyConnect protein glycosylation platform

More...GlyConnecti		57, 57 N-Linked glycans (13 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P04114, 28 sites, 20 N-linked glycans (8 sites), 1 O-linked glycan (7 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P04114

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

More...PhosphoSitePlusi		P04114

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P04114

<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 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

Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000084674, Expressed in jejunal mucosa and 102 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P04114, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P04114, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000084674, Group enriched (intestine, liver)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PCSK9 (PubMed:22580899).

Interacts with MTTP (PubMed:26224785, PubMed:27206948).

Interacts with AUP1 (PubMed:28183703).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106835, 85 interactors

Database of interacting proteins

More...DIPi		DIP-44767N

Protein interaction database and analysis system

More...IntActi		P04114, 60 interactors

Molecular INTeraction database

More...MINTi		P04114

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000233242

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P04114

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P04114, protein

<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%5Fand%5Fdomains%5Fsection">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>Domaini46 – 672VitellogeninPROSITE-ProRule annotationAdd BLAST627

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni32 – 126Heparin-bindingAdd BLAST95
Regioni232 – 306Heparin-bindingAdd BLAST75
Regioni902 – 959Heparin-bindingAdd BLAST58
Regioni2043 – 2178Heparin-bindingAdd BLAST136
Regioni3161 – 3236Heparin-bindingAdd BLAST76
Regioni3174 – 3184Basic (possible receptor binding region)Add BLAST11
Regioni3373 – 3393LDL receptor bindingAdd BLAST21
Regioni3383 – 3516Heparin-bindingAdd BLAST134
Regioni3386 – 3394Basic (possible receptor binding region)9

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4338, Eukaryota

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P04114

Database of Orthologous Groups

More...OrthoDBi		5350at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P04114

TreeFam database of animal gene trees

More...TreeFami		TF331316

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...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
IPR022176, ApoB100_C
IPR016024, ARM-type_fold
IPR015819, Lipid_transp_b-sht_shell
IPR001747, Lipid_transpt_N
IPR009454, Lipid_transpt_open_b-sht
IPR011030, Lipovitellin_superhlx_dom
IPR015816, Vitellinogen_b-sht_N
IPR015255, Vitellinogen_open_b-sht

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12491, ApoB100_C, 1 hit
PF06448, DUF1081, 1 hit
PF09172, DUF1943, 1 hit
PF01347, Vitellogenin_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01169, DUF1943, 1 hit
SM00638, LPD_N, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 1 hit
SSF48431, SSF48431, 1 hit
SSF56968, SSF56968, 2 hits

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P04114-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDPPRPALLA LLALPALLLL LLAGARAEEE MLENVSLVCP KDATRFKHLR 
        60         70         80         90        100
KYTYNYEAES SSGVPGTADS RSATRINCKV ELEVPQLCSF ILKTSQCTLK 
       110        120        130        140        150
EVYGFNPEGK ALLKKTKNSE EFAAAMSRYE LKLAIPEGKQ VFLYPEKDEP 
       160        170        180        190        200
TYILNIKRGI ISALLVPPET EEAKQVLFLD TVYGNCSTHF TVKTRKGNVA 
       210        220        230        240        250
TEISTERDLG QCDRFKPIRT GISPLALIKG MTRPLSTLIS SSQSCQYTLD 
       260        270        280        290        300
AKRKHVAEAI CKEQHLFLPF SYKNKYGMVA QVTQTLKLED TPKINSRFFG 
       310        320        330        340        350
EGTKKMGLAF ESTKSTSPPK QAEAVLKTLQ ELKKLTISEQ NIQRANLFNK 
       360        370        380        390        400
LVTELRGLSD EAVTSLLPQL IEVSSPITLQ ALVQCGQPQC STHILQWLKR 
       410        420        430        440        450
VHANPLLIDV VTYLVALIPE PSAQQLREIF NMARDQRSRA TLYALSHAVN 
       460        470        480        490        500
NYHKTNPTGT QELLDIANYL MEQIQDDCTG DEDYTYLILR VIGNMGQTME 
       510        520        530        540        550
QLTPELKSSI LKCVQSTKPS LMIQKAAIQA LRKMEPKDKD QEVLLQTFLD 
       560        570        580        590        600
DASPGDKRLA AYLMLMRSPS QADINKIVQI LPWEQNEQVK NFVASHIANI 
       610        620        630        640        650
LNSEELDIQD LKKLVKEALK ESQLPTVMDF RKFSRNYQLY KSVSLPSLDP 
       660        670        680        690        700
ASAKIEGNLI FDPNNYLPKE SMLKTTLTAF GFASADLIEI GLEGKGFEPT 
       710        720        730        740        750
LEALFGKQGF FPDSVNKALY WVNGQVPDGV SKVLVDHFGY TKDDKHEQDM 
       760        770        780        790        800
VNGIMLSVEK LIKDLKSKEV PEARAYLRIL GEELGFASLH DLQLLGKLLL 
       810        820        830        840        850
MGARTLQGIP QMIGEVIRKG SKNDFFLHYI FMENAFELPT GAGLQLQISS 
       860        870        880        890        900
SGVIAPGAKA GVKLEVANMQ AELVAKPSVS VEFVTNMGII IPDFARSGVQ 
       910        920        930        940        950
MNTNFFHESG LEAHVALKAG KLKFIIPSPK RPVKLLSGGN TLHLVSTTKT 
       960        970        980        990       1000
EVIPPLIENR QSWSVCKQVF PGLNYCTSGA YSNASSTDSA SYYPLTGDTR 
      1010       1020       1030       1040       1050
LELELRPTGE IEQYSVSATY ELQREDRALV DTLKFVTQAE GAKQTEATMT 
      1060       1070       1080       1090       1100
FKYNRQSMTL SSEVQIPDFD VDLGTILRVN DESTEGKTSY RLTLDIQNKK 
      1110       1120       1130       1140       1150
ITEVALMGHL SCDTKEERKI KGVISIPRLQ AEARSEILAH WSPAKLLLQM 
      1160       1170       1180       1190       1200
DSSATAYGST VSKRVAWHYD EEKIEFEWNT GTNVDTKKMT SNFPVDLSDY 
      1210       1220       1230       1240       1250
PKSLHMYANR LLDHRVPQTD MTFRHVGSKL IVAMSSWLQK ASGSLPYTQT 
      1260       1270       1280       1290       1300
LQDHLNSLKE FNLQNMGLPD FHIPENLFLK SDGRVKYTLN KNSLKIEIPL 
      1310       1320       1330       1340       1350
PFGGKSSRDL KMLETVRTPA LHFKSVGFHL PSREFQVPTF TIPKLYQLQV 
      1360       1370       1380       1390       1400
PLLGVLDLST NVYSNLYNWS ASYSGGNTST DHFSLRARYH MKADSVVDLL 
      1410       1420       1430       1440       1450
SYNVQGSGET TYDHKNTFTL SYDGSLRHKF LDSNIKFSHV EKLGNNPVSK 
      1460       1470       1480       1490       1500
GLLIFDASSS WGPQMSASVH LDSKKKQHLF VKEVKIDGQF RVSSFYAKGT 
      1510       1520       1530       1540       1550
YGLSCQRDPN TGRLNGESNL RFNSSYLQGT NQITGRYEDG TLSLTSTSDL 
      1560       1570       1580       1590       1600
QSGIIKNTAS LKYENYELTL KSDTNGKYKN FATSNKMDMT FSKQNALLRS 
      1610       1620       1630       1640       1650
EYQADYESLR FFSLLSGSLN SHGLELNADI LGTDKINSGA HKATLRIGQD 
      1660       1670       1680       1690       1700
GISTSATTNL KCSLLVLENE LNAELGLSGA SMKLTTNGRF REHNAKFSLD 
      1710       1720       1730       1740       1750
GKAALTELSL GSAYQAMILG VDSKNIFNFK VSQEGLKLSN DMMGSYAEMK 
      1760       1770       1780       1790       1800
FDHTNSLNIA GLSLDFSSKL DNIYSSDKFY KQTVNLQLQP YSLVTTLNSD 
      1810       1820       1830       1840       1850
LKYNALDLTN NGKLRLEPLK LHVAGNLKGA YQNNEIKHIY AISSAALSAS 
      1860       1870       1880       1890       1900
YKADTVAKVQ GVEFSHRLNT DIAGLASAID MSTNYNSDSL HFSNVFRSVM 
      1910       1920       1930       1940       1950
APFTMTIDAH TNGNGKLALW GEHTGQLYSK FLLKAEPLAF TFSHDYKGST 
      1960       1970       1980       1990       2000
SHHLVSRKSI SAALEHKVSA LLTPAEQTGT WKLKTQFNNN EYSQDLDAYN 
      2010       2020       2030       2040       2050
TKDKIGVELT GRTLADLTLL DSPIKVPLLL SEPINIIDAL EMRDAVEKPQ 
      2060       2070       2080       2090       2100
EFTIVAFVKY DKNQDVHSIN LPFFETLQEY FERNRQTIIV VLENVQRNLK 
      2110       2120       2130       2140       2150
HINIDQFVRK YRAALGKLPQ QANDYLNSFN WERQVSHAKE KLTALTKKYR 
      2160       2170       2180       2190       2200
ITENDIQIAL DDAKINFNEK LSQLQTYMIQ FDQYIKDSYD LHDLKIAIAN 
      2210       2220       2230       2240       2250
IIDEIIEKLK SLDEHYHIRV NLVKTIHDLH LFIENIDFNK SGSSTASWIQ 
      2260       2270       2280       2290       2300
NVDTKYQIRI QIQEKLQQLK RHIQNIDIQH LAGKLKQHIE AIDVRVLLDQ 
      2310       2320       2330       2340       2350
LGTTISFERI NDILEHVKHF VINLIGDFEV AEKINAFRAK VHELIERYEV 
      2360       2370       2380       2390       2400
DQQIQVLMDK LVELAHQYKL KETIQKLSNV LQQVKIKDYF EKLVGFIDDA 
      2410       2420       2430       2440       2450
VKKLNELSFK TFIEDVNKFL DMLIKKLKSF DYHQFVDETN DKIREVTQRL 
      2460       2470       2480       2490       2500
NGEIQALELP QKAEALKLFL EETKATVAVY LESLQDTKIT LIINWLQEAL 
      2510       2520       2530       2540       2550
SSASLAHMKA KFRETLEDTR DRMYQMDIQQ ELQRYLSLVG QVYSTLVTYI 
      2560       2570       2580       2590       2600
SDWWTLAAKN LTDFAEQYSI QDWAKRMKAL VEQGFTVPEI KTILGTMPAF 
      2610       2620       2630       2640       2650
EVSLQALQKA TFQTPDFIVP LTDLRIPSVQ INFKDLKNIK IPSRFSTPEF 
      2660       2670       2680       2690       2700
TILNTFHIPS FTIDFVEMKV KIIRTIDQML NSELQWPVPD IYLRDLKVED 
      2710       2720       2730       2740       2750
IPLARITLPD FRLPEIAIPE FIIPTLNLND FQVPDLHIPE FQLPHISHTI 
      2760       2770       2780       2790       2800
EVPTFGKLYS ILKIQSPLFT LDANADIGNG TTSANEAGIA ASITAKGESK 
      2810       2820       2830       2840       2850
LEVLNFDFQA NAQLSNPKIN PLALKESVKF SSKYLRTEHG SEMLFFGNAI 
      2860       2870       2880       2890       2900
EGKSNTVASL HTEKNTLELS NGVIVKINNQ LTLDSNTKYF HKLNIPKLDF 
      2910       2920       2930       2940       2950
SSQADLRNEI KTLLKAGHIA WTSSGKGSWK WACPRFSDEG THESQISFTI 
      2960       2970       2980       2990       3000
EGPLTSFGLS NKINSKHLRV NQNLVYESGS LNFSKLEIQS QVDSQHVGHS 
      3010       3020       3030       3040       3050
VLTAKGMALF GEGKAEFTGR HDAHLNGKVI GTLKNSLFFS AQPFEITAST 
      3060       3070       3080       3090       3100
NNEGNLKVRF PLRLTGKIDF LNNYALFLSP SAQQASWQVS ARFNQYKYNQ 
      3110       3120       3130       3140       3150
NFSAGNNENI MEAHVGINGE ANLDFLNIPL TIPEMRLPYT IITTPPLKDF 
      3160       3170       3180       3190       3200
SLWEKTGLKE FLKTTKQSFD LSVKAQYKKN KHRHSITNPL AVLCEFISQS 
      3210       3220       3230       3240       3250
IKSFDRHFEK NRNNALDFVT KSYNETKIKF DKYKAEKSHD ELPRTFQIPG 
      3260       3270       3280       3290       3300
YTVPVVNVEV SPFTIEMSAF GYVFPKAVSM PSFSILGSDV RVPSYTLILP 
      3310       3320       3330       3340       3350
SLELPVLHVP RNLKLSLPDF KELCTISHIF IPAMGNITYD FSFKSSVITL 
      3360       3370       3380       3390       3400
NTNAELFNQS DIVAHLLSSS SSVIDALQYK LEGTTRLTRK RGLKLATALS 
      3410       3420       3430       3440       3450
LSNKFVEGSH NSTVSLTTKN MEVSVATTTK AQIPILRMNF KQELNGNTKS 
      3460       3470       3480       3490       3500
KPTVSSSMEF KYDFNSSMLY STAKGAVDHK LSLESLTSYF SIESSTKGDV 
      3510       3520       3530       3540       3550
KGSVLSREYS GTIASEANTY LNSKSTRSSV KLQGTSKIDD IWNLEVKENF 
      3560       3570       3580       3590       3600
AGEATLQRIY SLWEHSTKNH LQLEGLFFTN GEHTSKATLE LSPWQMSALV 
      3610       3620       3630       3640       3650
QVHASQPSSF HDFPDLGQEV ALNANTKNQK IRWKNEVRIH SGSFQSQVEL 
      3660       3670       3680       3690       3700
SNDQEKAHLD IAGSLEGHLR FLKNIILPVY DKSLWDFLKL DVTTSIGRRQ 
      3710       3720       3730       3740       3750
HLRVSTAFVY TKNPNGYSFS IPVKVLADKF IIPGLKLNDL NSVLVMPTFH 
      3760       3770       3780       3790       3800
VPFTDLQVPS CKLDFREIQI YKKLRTSSFA LNLPTLPEVK FPEVDVLTKY 
      3810       3820       3830       3840       3850
SQPEDSLIPF FEITVPESQL TVSQFTLPKS VSDGIAALDL NAVANKIADF 
      3860       3870       3880       3890       3900
ELPTIIVPEQ TIEIPSIKFS VPAGIVIPSF QALTARFEVD SPVYNATWSA 
      3910       3920       3930       3940       3950
SLKNKADYVE TVLDSTCSST VQFLEYELNV LGTHKIEDGT LASKTKGTFA 
      3960       3970       3980       3990       4000
HRDFSAEYEE DGKYEGLQEW EGKAHLNIKS PAFTDLHLRY QKDKKGISTS 
      4010       4020       4030       4040       4050
AASPAVGTVG MDMDEDDDFS KWNFYYSPQS SPDKKLTIFK TELRVRESDE 
      4060       4070       4080       4090       4100
ETQIKVNWEE EAASGLLTSL KDNVPKATGV LYDYVNKYHW EHTGLTLREV 
      4110       4120       4130       4140       4150
SSKLRRNLQN NAEWVYQGAI RQIDDIDVRF QKAASGTTGT YQEWKDKAQN 
      4160       4170       4180       4190       4200
LYQELLTQEG QASFQGLKDN VFDGLVRVTQ EFHMKVKHLI DSLIDFLNFP 
      4210       4220       4230       4240       4250
RFQFPGKPGI YTREELCTMF IREVGTVLSQ VYSKVHNGSE ILFSYFQDLV 
      4260       4270       4280       4290       4300
ITLPFELRKH KLIDVISMYR ELLKDLSKEA QEVFKAIQSL KTTEVLRNLQ 
      4310       4320       4330       4340       4350
DLLQFIFQLI EDNIKQLKEM KFTYLINYIQ DEINTIFSDY IPYVFKLLKE 
      4360       4370       4380       4390       4400
NLCLNLHKFN EFIQNELQEA SQELQQIHQY IMALREEYFD PSIVGWTVKY 
      4410       4420       4430       4440       4450
YELEEKIVSL IKNLLVALKD FHSEYIVSAS NFTSQLSSQV EQFLHRNIQE 
      4460       4470       4480       4490       4500
YLSILTDPDG KGKEKIAELS ATAQEIIKSQ AIATKKIISD YHQQFRYKLQ 
      4510       4520       4530       4540       4550
DFSDQLSDYY EKFIAESKRL IDLSIQNYHT FLIYITELLK KLQSTTVMNP 
      4560 
YMKLAPGELT IIL
Length:4,563
Mass (Da):515,605
Last modified:July 13, 2010 - v2
<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:i6800F94BF6ADF698
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MUN2A8MUN2_HUMAN
Apolipoprotein B-100
APOB
828Annotation 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>
A0A669KB70A0A669KB70_HUMAN
Apolipoprotein B-100
APOB
135Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA51752 differs from that shown. Reason: Frameshift.Curated

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 conflicti11 – 13Missing in AAB60718 (PubMed:3030729).Curated3
Sequence conflicti11 – 13Missing in CAA28420 (PubMed:3030729).Curated3
Sequence conflicti329L → V in AAA35549 (PubMed:3759943).Curated1
Sequence conflicti645L → I in AAA35549 (PubMed:3759943).Curated1
Sequence conflicti704L → P in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti792 – 809LQLLG…TLQGI → SSSWKAASHGCPHSAGD in AAA51759 (PubMed:3860836).CuratedAdd BLAST18
Sequence conflicti793Q → R in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti893D → K AA sequence (PubMed:6373369).Curated1
Sequence conflicti919A → P in AAA35549 (PubMed:3759943).Curated1
Sequence conflicti1109H → D in CAA28420 (PubMed:3030729).Curated1
Sequence conflicti1180T → R in AAA51752 (PubMed:3461454).Curated1
Sequence conflicti1271F → S in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti1418F → S in CAA28420 (PubMed:3030729).Curated1
Sequence conflicti1445N → I in AAA51752 (PubMed:3461454).Curated1
Sequence conflicti1535G → E in AAA51752 (PubMed:3461454).Curated1
Sequence conflicti1867R → G in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti2098N → K in CAA28420 (PubMed:3030729).Curated1
Sequence conflicti2218I → T in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti2221N → I in CAA28420 (PubMed:3030729).Curated1
Sequence conflicti2324 – 2326LIG → PYW in AAA51741 (PubMed:3676265).Curated3
Sequence conflicti2353Q → H in AAA51741 (PubMed:3676265).Curated1
Sequence conflicti2540G → S in CAA28420 (PubMed:3030729).Curated1
Sequence conflicti2718 – 2737Missing in AAA51758 (PubMed:2883086).CuratedAdd BLAST20
Sequence conflicti2933C → S in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti3114H → L AA sequence (PubMed:6373369).Curated1
Sequence conflicti3131T → R AA sequence (PubMed:6373369).Curated1
Sequence conflicti3134E → P AA sequence (PubMed:6373369).Curated1
Sequence conflicti3137L → R AA sequence (PubMed:6373369).Curated1
Sequence conflicti3239H → Q in CAA28420 (PubMed:3030729).Curated1
Sequence conflicti3286L → I in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti3291R → L in AAA51758 (PubMed:2883086).Curated1
Sequence conflicti3337I → N in AAA51758 (PubMed:2883086).Curated1
Sequence conflicti3431A → P in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti3728D → N in AAA51742 (PubMed:2932736).Curated1
Sequence conflicti3782N → T in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti3824Q → R in CAA28420 (PubMed:3030729).Curated1
Sequence conflicti3824Q → R in AAA51750 (PubMed:2994225).Curated1
Sequence conflicti3876V → A in AAA35549 (PubMed:3759943).Curated1
Sequence conflicti3876V → A in AAA51742 (PubMed:2932736).Curated1
Sequence conflicti3911T → Y AA sequence (PubMed:2115173).Curated1
Sequence conflicti3983F → S in AAA51742 (PubMed:2932736).Curated1
Sequence conflicti4002A → P in AAA51742 (PubMed:2932736).Curated1
Sequence conflicti4110 – 4111NN → DH in AAA35549 (PubMed:3759943).Curated2
Sequence conflicti4110 – 4111NN → DH in AAA51742 (PubMed:2932736).Curated2
Sequence conflicti4122Q → E in AAA35549 (PubMed:3759943).Curated1
Sequence conflicti4122Q → E in AAA51742 (PubMed:2932736).Curated1
Sequence conflicti4128V → E in AAA35549 (PubMed:3759943).Curated1
Sequence conflicti4128V → E in AAA51742 (PubMed:2932736).Curated1
Sequence conflicti4133A → G in AAA35549 (PubMed:3759943).Curated1
Sequence conflicti4133A → G in AAA51742 (PubMed:2932736).Curated1
Sequence conflicti4188H → K in AAB04636 (PubMed:3464946).Curated1
Sequence conflicti4217 – 4218CT → FP in AAA35548 (PubMed:3024665).Curated2
Sequence conflicti4221I → M in AAB04636 (PubMed:3464946).Curated1

<p>This subsection of the 'Sequence' section provides information relevant to all types of RNA editing events (conversion, insertion, deletion of nucleotides) that lead to one or more amino acid changes compared to the translation of the non-edited RNA version.<p><a href='/help/rna_editing' target='_top'>More...</a></p>RNA editingi

Edited at position 2180.
The stop codon (UAA) at position 2180 is created by RNA editing. Apo B-48, derived from the fully edited RNA, is produced only in the intestine and is found in chylomicrons. Apo B-48 is a shortened form of apo B-100 which lacks the LDL-receptor region. The unedited version (apo B-100) is produced by the liver and is found in the VLDL and LDL.

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIMi:615558].

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06727712 – 14Missing 1 Publication3
Natural variantiVAR_01618498T → I Influences plasma concentrations of low density lipoprotein cholesterol. 6 PublicationsCorresponds to variant dbSNP:rs1367117Ensembl.1
Natural variantiVAR_022036103Y → H. Corresponds to variant dbSNP:rs9282603Ensembl.1
Natural variantiVAR_022037145P → S. Corresponds to variant dbSNP:rs6752026Ensembl.1
Natural variantiVAR_056737194T → M. Corresponds to variant dbSNP:rs13306198EnsemblClinVar.1
Natural variantiVAR_076538251A → T Does not affect plasma lipid levels. 1 PublicationCorresponds to variant dbSNP:rs61741625EnsemblClinVar.1
Natural variantiVAR_019827273K → N1 Publication1
Natural variantiVAR_029341408I → T. Corresponds to variant dbSNP:rs12714225Ensembl.1
Natural variantiVAR_022610490R → W in FHBL1; reduced protein secretion. 1 PublicationCorresponds to variant dbSNP:rs771541567Ensembl.1
Natural variantiVAR_020135554P → L. Corresponds to variant dbSNP:rs12714214Ensembl.1
Natural variantiVAR_019828618A → V3 PublicationsCorresponds to variant dbSNP:rs679899Ensembl.1
Natural variantiVAR_020136730V → I1 PublicationCorresponds to variant dbSNP:rs12691202Ensembl.1
Natural variantiVAR_016185733V → I. Corresponds to variant dbSNP:rs1800476Ensembl.1
Natural variantiVAR_020137741T → N. Corresponds to variant dbSNP:rs12714192Ensembl.1
Natural variantiVAR_029342877P → L. Corresponds to variant dbSNP:rs12714097EnsemblClinVar.1
Natural variantiVAR_076539952V → L in FHBL1; unknown pathological significance; does not affect interaction with MTTP. 1 Publication1
Natural variantiVAR_056738955P → S. Corresponds to variant dbSNP:rs13306206Ensembl.1
Natural variantiVAR_0293431086G → S. Corresponds to variant dbSNP:rs12720801EnsemblClinVar.1
Natural variantiVAR_0293441113D → H. Corresponds to variant dbSNP:rs12713844Ensembl.1
Natural variantiVAR_0226111128R → H1 PublicationCorresponds to variant dbSNP:rs12713843EnsemblClinVar.1
Natural variantiVAR_0198291218Q → E2 PublicationsCorresponds to variant dbSNP:rs1041956Ensembl.1
Natural variantiVAR_0293451388R → H. Corresponds to variant dbSNP:rs13306187EnsemblClinVar.1
Natural variantiVAR_0615581422Y → C8 PublicationsCorresponds to variant dbSNP:rs568413Ensembl.1
Natural variantiVAR_0050161437F → L1 PublicationCorresponds to variant dbSNP:rs1801697EnsemblClinVar.1
Natural variantiVAR_0672781613S → T1 PublicationCorresponds to variant dbSNP:rs61742247EnsemblClinVar.1
Natural variantiVAR_0689111670E → D2 PublicationsCorresponds to variant dbSNP:rs773681906Ensembl.1
Natural variantiVAR_0050171914N → S2 PublicationsCorresponds to variant dbSNP:rs1801699Ensembl.1
Natural variantiVAR_0050181923H → R2 PublicationsCorresponds to variant dbSNP:rs533617Ensembl.1
Natural variantiVAR_0689122037I → N2 Publications1
Natural variantiVAR_0198302092L → V1 PublicationCorresponds to variant dbSNP:rs1041960Ensembl.1
Natural variantiVAR_0293462299D → H. Corresponds to variant dbSNP:rs12713681Ensembl.1
Natural variantiVAR_0595822313I → V8 PublicationsCorresponds to variant dbSNP:rs584542Ensembl.1
Natural variantiVAR_0198312365A → T1 PublicationCorresponds to variant dbSNP:rs1041971Ensembl.1
Natural variantiVAR_0201382456A → D. Corresponds to variant dbSNP:rs12713675Ensembl.1
Natural variantiVAR_0357952564F → C in a colorectal cancer sample; somatic mutation; confirmed at protein level. 2 Publications1
Natural variantiVAR_0050192566E → K3 PublicationsCorresponds to variant dbSNP:rs1801696EnsemblClinVar.1
Natural variantiVAR_0198322680L → Q1 PublicationCorresponds to variant dbSNP:rs1042013Ensembl.1
Natural variantiVAR_0050202739P → L3 PublicationsCorresponds to variant dbSNP:rs676210Ensembl.1
Natural variantiVAR_0220382785N → H. Corresponds to variant dbSNP:rs2163204EnsemblClinVar.1
Natural variantiVAR_0050213121A → T1 PublicationCorresponds to variant dbSNP:rs1801694Ensembl.1
Natural variantiVAR_0293473182H → N. Corresponds to variant dbSNP:rs12720848EnsemblClinVar.1
Natural variantiVAR_0293483279S → G. Corresponds to variant dbSNP:rs12720854Ensembl.1
Natural variantiVAR_0201393294S → P. Corresponds to variant dbSNP:rs12720855Ensembl.1
Natural variantiVAR_0050223319D → H8 PublicationsCorresponds to variant dbSNP:rs1042021Ensembl.1
Natural variantiVAR_0050233427T → K8 PublicationsCorresponds to variant dbSNP:rs1042022Ensembl.1
Natural variantiVAR_0050243432Q → E8 PublicationsCorresponds to variant dbSNP:rs1042023Ensembl.1
Natural variantiVAR_0050253527R → Q in FHCL2. 3 PublicationsCorresponds to variant dbSNP:rs5742904Ensembl.1
Natural variantiVAR_0050263558R → C in FHCL2. 2 PublicationsCorresponds to variant dbSNP:rs12713559Ensembl.1
Natural variantiVAR_0161863638R → Q1 PublicationCorresponds to variant dbSNP:rs1801701Ensembl.1
Natural variantiVAR_0198333732I → T4 PublicationsCorresponds to variant dbSNP:rs1042025Ensembl.1
Natural variantiVAR_0293493801S → T. Corresponds to variant dbSNP:rs12713540Ensembl.1
Natural variantiVAR_0672793835I → L1 PublicationCorresponds to variant dbSNP:rs776119459Ensembl.1
Natural variantiVAR_0050273921V → I1 PublicationCorresponds to variant dbSNP:rs72654409Ensembl.1
Natural variantiVAR_0050283945T → A1 PublicationCorresponds to variant dbSNP:rs1801698EnsemblClinVar.1
Natural variantiVAR_0198343949F → L5 PublicationsCorresponds to variant dbSNP:rs1042027Ensembl.1
Natural variantiVAR_0198353964Y → F4 PublicationsCorresponds to variant dbSNP:rs1126468Ensembl.1
Natural variantiVAR_0050294128V → M1 PublicationCorresponds to variant dbSNP:rs1801703Ensembl.1
Natural variantiVAR_0161874181E → K6 PublicationsCorresponds to variant dbSNP:rs1042031Ensembl.1
Natural variantiVAR_0161884270R → T1 PublicationCorresponds to variant dbSNP:rs1801702Ensembl.1
Natural variantiVAR_0672804314I → V1 PublicationCorresponds to variant dbSNP:rs72654423Ensembl.1
Natural variantiVAR_0050304338S → N11 PublicationsCorresponds to variant dbSNP:rs1042034Ensembl.1
Natural variantiVAR_0293504394V → A. Corresponds to variant dbSNP:rs12720843EnsemblClinVar.1
Natural variantiVAR_0050314481A → T2 PublicationsCorresponds to variant dbSNP:rs1801695Ensembl.1
Natural variantiVAR_0672814482I → V1 PublicationCorresponds to variant dbSNP:rs142702699EnsemblClinVar.1
Natural variantiVAR_0201404484T → M. Corresponds to variant dbSNP:rs12713450Ensembl.1

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
X04506 mRNA Translation: CAA28191.1
M19828 M19827 Genomic DNA Translation: AAB00481.1
J02610 mRNA Translation: AAA35549.1
M14162 mRNA Translation: AAB04636.1
M15053 Genomic DNA Translation: AAB60718.1
X04714 mRNA Translation: CAA28420.1
AY324608 Genomic DNA Translation: AAP72970.1
AC010872 Genomic DNA Translation: AAX88848.1
AC115619 Genomic DNA Translation: AAX93246.1
M14081 mRNA Translation: AAA51752.1 Frameshift.
M12681 mRNA Translation: AAA51753.1
M12480 mRNA Translation: AAA51751.1
K03175 mRNA Translation: AAA51759.1
M15421 mRNA Translation: AAA51758.1
M17367 mRNA Translation: AAA51741.1
M31030 mRNA Translation: AAA51756.1
X03325 mRNA Translation: CAA27044.1
X03326 mRNA Translation: CAA27045.1
M17779 mRNA Translation: AAA51755.1
M19734 mRNA Translation: AAA35544.1
M18471 mRNA Translation: AAA35541.1
X03045 mRNA Translation: CAA26850.1
M10374 mRNA Translation: AAA51750.1
M12413 mRNA Translation: AAA51742.1
M36676 mRNA Translation: AAA35548.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1703.1

Protein sequence database of the Protein Information Resource

More...PIRi		A27850, LPHUB

NCBI Reference Sequences

More...RefSeqi		NP_000375.2, NM_000384.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000233242; ENSP00000233242; ENSG00000084674

Database of genes from NCBI RefSeq genomes

More...GeneIDi		338

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:338

UCSC genome browser

More...UCSCi		uc002red.3, human

Keywords - Coding sequence diversityi

RNA editing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Apolipoprotein B entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04506 mRNA Translation: CAA28191.1
M19828 M19827 Genomic DNA Translation: AAB00481.1
J02610 mRNA Translation: AAA35549.1
M14162 mRNA Translation: AAB04636.1
M15053 Genomic DNA Translation: AAB60718.1
X04714 mRNA Translation: CAA28420.1
AY324608 Genomic DNA Translation: AAP72970.1
AC010872 Genomic DNA Translation: AAX88848.1
AC115619 Genomic DNA Translation: AAX93246.1
M14081 mRNA Translation: AAA51752.1 Frameshift.
M12681 mRNA Translation: AAA51753.1
M12480 mRNA Translation: AAA51751.1
K03175 mRNA Translation: AAA51759.1
M15421 mRNA Translation: AAA51758.1
M17367 mRNA Translation: AAA51741.1
M31030 mRNA Translation: AAA51756.1
X03325 mRNA Translation: CAA27044.1
X03326 mRNA Translation: CAA27045.1
M17779 mRNA Translation: AAA51755.1
M19734 mRNA Translation: AAA35544.1
M18471 mRNA Translation: AAA35541.1
X03045 mRNA Translation: CAA26850.1
M10374 mRNA Translation: AAA51750.1
M12413 mRNA Translation: AAA51742.1
M36676 mRNA Translation: AAA35548.1
CCDSiCCDS1703.1
PIRiA27850, LPHUB
RefSeqiNP_000375.2, NM_000384.2

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi106835, 85 interactors
DIPiDIP-44767N
IntActiP04114, 60 interactors
MINTiP04114
STRINGi9606.ENSP00000233242

Chemistry databases

BindingDBiP04114
ChEMBLiCHEMBL4549
DrugBankiDB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

PTM databases

CarbonylDBiP04114
GlyConnecti57, 57 N-Linked glycans (13 sites)
GlyGeniP04114, 28 sites, 20 N-linked glycans (8 sites), 1 O-linked glycan (7 sites)
iPTMnetiP04114
PhosphoSitePlusiP04114
SwissPalmiP04114

Genetic variation databases

BioMutaiAPOB
DMDMi300669605

Proteomic databases

CPTACiCPTAC-1299
CPTAC-1300
CPTAC-2205
CPTAC-652
CPTAC-653
non-CPTAC-1080
non-CPTAC-1081
non-CPTAC-1082
EPDiP04114
jPOSTiP04114
MassIVEiP04114
MaxQBiP04114
PaxDbiP04114
PeptideAtlasiP04114
PRIDEiP04114
ProteomicsDBi51654

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P04114, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4232, 1067 antibodies

Genome annotation databases

EnsembliENST00000233242; ENSP00000233242; ENSG00000084674
GeneIDi338
KEGGihsa:338
UCSCiuc002red.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		338
DisGeNETi338

GeneCards: human genes, protein and diseases

More...GeneCardsi		APOB
GeneReviewsiAPOB
HGNCiHGNC:603, APOB
HPAiENSG00000084674, Group enriched (intestine, liver)
MalaCardsiAPOB
MIMi107730, gene
144010, phenotype
615558, phenotype
neXtProtiNX_P04114
Orphaneti391665, Homozygous familial hypercholesterolemia
426, NON RARE IN EUROPE: Familial hypobetalipoproteinemia
406, NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
PharmGKBiPA50
VEuPathDBiHostDB:ENSG00000084674.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4338, Eukaryota
InParanoidiP04114
OrthoDBi5350at2759
PhylomeDBiP04114
TreeFamiTF331316

Enzyme and pathway databases

PathwayCommonsiP04114
ReactomeiR-HSA-202733, Cell surface interactions at the vascular wall
R-HSA-3000471, Scavenging by Class B Receptors
R-HSA-3000480, Scavenging by Class A Receptors
R-HSA-3000484, Scavenging by Class F Receptors
R-HSA-3000497, Scavenging by Class H Receptors
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-432142, Platelet sensitization by LDL
R-HSA-5686938, Regulation of TLR by endogenous ligand
R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828, Clathrin-mediated endocytosis
R-HSA-8866423, VLDL assembly
R-HSA-8957275, Post-translational protein phosphorylation
R-HSA-8963888, Chylomicron assembly
R-HSA-8963901, Chylomicron remodeling
R-HSA-8964026, Chylomicron clearance
R-HSA-8964038, LDL clearance
R-HSA-8964041, LDL remodeling
R-HSA-8964046, VLDL clearance
R-HSA-975634, Retinoid metabolism and transport
SIGNORiP04114

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		338, 5 hits in 873 CRISPR screens

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

More...ChiTaRSi		APOB, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Apolipoprotein_B

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

More...GenomeRNAii		338
PharosiP04114, Tchem

Protein Ontology

More...PROi		PR:P04114
RNActiP04114, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000084674, Expressed in jejunal mucosa and 102 other tissues
ExpressionAtlasiP04114, baseline and differential
GenevisibleiP04114, HS

Family and domain databases

Gene3Di1.25.10.20, 1 hit
2.30.230.10, 1 hit
InterProiView protein in InterPro
IPR022176, ApoB100_C
IPR016024, ARM-type_fold
IPR015819, Lipid_transp_b-sht_shell
IPR001747, Lipid_transpt_N
IPR009454, Lipid_transpt_open_b-sht
IPR011030, Lipovitellin_superhlx_dom
IPR015816, Vitellinogen_b-sht_N
IPR015255, Vitellinogen_open_b-sht
PfamiView protein in Pfam
PF12491, ApoB100_C, 1 hit
PF06448, DUF1081, 1 hit
PF09172, DUF1943, 1 hit
PF01347, Vitellogenin_N, 1 hit
SMARTiView protein in SMART
SM01169, DUF1943, 1 hit
SM00638, LPD_N, 1 hit
SUPFAMiSSF48371, SSF48371, 1 hit
SSF48431, SSF48431, 1 hit
SSF56968, SSF56968, 2 hits
PROSITEiView protein in PROSITE
PS51211, VITELLOGENIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiAPOB_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: P04114
Secondary accession number(s): O00502
, P78479, P78480, P78481, Q13779, Q13785, Q13786, Q13787, Q13788, Q4ZG63, Q53QC8, Q7Z600, Q9UMN0
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1986
Last sequence update: July 13, 2010
Last modified: February 10, 2021
This is version 239 of the entry and version 2 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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