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Details on Person UniProt:P04114 APOB
| Class:Id | ReferenceGeneProduct:50108 |
|---|---|
| _chainChangeLog | signal peptide:1-27 added on Fri February 6 2015;chain:28-4563 added on Fri February 6 2015;chain:28-2179 added on Fri February 6 2015 |
| _displayName | UniProt:P04114 APOB |
| _timestamp | 2025-05-21 21:41:09 |
| chain | signal peptide:1-27 chain:28-4563 chain:28-2179 |
| checksum | D1073B2D5172A370 |
| comment | FUNCTION 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.SUBUNIT Interacts with PCSK9 (PubMed:22580899). Interacts with MTTP (PubMed:26224785, PubMed:27206948). Interacts with AUP1 (PubMed:28183703). Interacts with CIDEB (By similarity).INTERACTION Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).PTM Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.RNA EDITING The stop codon (UAA) at position 2180 is created by an APOBEC1-containing mRNA editing complex. 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.POLYMORPHISM Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:615558].DISEASE 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).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.SEQUENCE CAUTION Apolipoprotein B entry |
| description | recommendedName: Apolipoprotein B-100 shortName: Apo B-100 component recommendedName: Apolipoprotein B-48 shortName: Apo B-48 /component |
| geneName | APOB |
| identifier | P04114 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Atherosclerosis Cholesterol metabolism Chylomicron Cytoplasm Direct protein sequencing Disease variant Disulfide bond Glycoprotein Heparin-binding LDL Lipid droplet Lipid metabolism Lipid transport Lipoprotein Palmitate Phosphoprotein Proteomics identification Reference proteome RNA editing Secreted Signal Steroid metabolism Sterol metabolism Transport VLDL |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | APOB |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8958374] ENSEMBL:ENSG00000084674 APOB [Homo sapiens] |
| secondaryIdentifier | APOB_HUMAN O00502 P78479 P78480 P78481 Q13779 Q13785 Q13786 Q13787 Q13788 Q4ZG63 Q53QC8 Q7Z600 Q9UMN0 |
| sequenceLength | 4563 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:171065] APOB(28-4563) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:171089] APOB(28-4563) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:171119] APOB(28-4563) [endosome lumen] [Homo sapiens] [EntityWithAccessionedSequence:171121] APOB(28-4563) [endosome membrane] [Homo sapiens] [EntityWithAccessionedSequence:171155] APOB(28-4563) [clathrin-coated endocytic vesicle membrane] [Homo sapiens] [EntityWithAccessionedSequence:174620] APOB(28-2179) [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:174625] APOB(28-2179) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:174637] APOB(28-2179) [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:174716] APOB(28-2179) [endosome lumen] [Homo sapiens] [EntityWithAccessionedSequence:174762] APOB(28-2179) [endosome membrane] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:2173695] dihydroxyphenylalanine (Phe) at 4380 [ModifiedResidue:2173697] L-tyrosine residue at 883 [ModifiedResidue:2173698] modified L-lysine residue at 2208 [ModifiedResidue:2173700] Oxohistidine (from histidine) at 596 [ModifiedResidue:2173703] glutamyl semialdehyde (Pro) at 3293 [ModifiedResidue:2173704] Oxohistidine (from histidine) at 2507 [ModifiedResidue:2173706] dihydroxyphenylalanine (Phe) at 276 [ModifiedResidue:2173707] glutamyl semialdehyde (Pro) at 2659 [ModifiedResidue:2173710] Oxohistidine (from histidine) at 4529 [ModifiedResidue:2173711] L-tyrosine residue at 2665 |
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No pathways have been reviewed or authored by UniProt:P04114 APOB (50108)
