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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Cancer-related genes Candidate cardiovascular disease genes Disease related genes Human disease related genes Metabolic proteins Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.32
Chromosome location (bp)
44905791 - 44909393
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
APOE-201
APOE-202
APOE-203
APOE-204
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P02649 [Direct mapping] Apolipoprotein E A0A0S2Z3D5 [Target identity:100%; Query identity:100%] Apolipoprotein E isoform 1
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Candidate cardiovascular disease genes Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000302 [response to reactive oxygen species] GO:0001523 [retinoid metabolic process] GO:0001540 [amyloid-beta binding] GO:0001937 [negative regulation of endothelial cell proliferation] GO:0002021 [response to dietary excess] GO:0005102 [signaling receptor binding] GO:0005198 [structural molecule activity] GO:0005319 [lipid transporter activity] GO:0005515 [protein binding] GO:0005543 [phospholipid binding] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005769 [early endosome] GO:0005783 [endoplasmic reticulum] GO:0005788 [endoplasmic reticulum lumen] GO:0005794 [Golgi apparatus] GO:0005886 [plasma membrane] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0006629 [lipid metabolic process] GO:0006641 [triglyceride metabolic process] GO:0006707 [cholesterol catabolic process] GO:0006869 [lipid transport] GO:0006874 [cellular calcium ion homeostasis] GO:0006898 [receptor-mediated endocytosis] GO:0006979 [response to oxidative stress] GO:0007010 [cytoskeleton organization] GO:0007186 [G protein-coupled receptor signaling pathway] GO:0007263 [nitric oxide mediated signal transduction] GO:0007271 [synaptic transmission, cholinergic] GO:0007616 [long-term memory] GO:0008201 [heparin binding] GO:0008202 [steroid metabolic process] GO:0008203 [cholesterol metabolic process] GO:0008289 [lipid binding] GO:0010467 [gene expression] GO:0010468 [regulation of gene expression] GO:0010544 [negative regulation of platelet activation] GO:0010596 [negative regulation of endothelial cell migration] GO:0010629 [negative regulation of gene expression] GO:0010873 [positive regulation of cholesterol esterification] GO:0010875 [positive regulation of cholesterol efflux] GO:0010877 [lipid transport involved in lipid storage] GO:0010976 [positive regulation of neuron projection development] GO:0010977 [negative regulation of neuron projection development] GO:0015909 [long-chain fatty acid transport] GO:0016020 [membrane] GO:0016209 [antioxidant activity] GO:0017038 [protein import] GO:0019068 [virion assembly] GO:0019934 [cGMP-mediated signaling] GO:0030195 [negative regulation of blood coagulation] GO:0030425 [dendrite] GO:0030516 [regulation of axon extension] GO:0030669 [clathrin-coated endocytic vesicle membrane] GO:0031012 [extracellular matrix] GO:0031175 [neuron projection development] GO:0032269 [negative regulation of cellular protein metabolic process] GO:0032489 [regulation of Cdc42 protein signal transduction] GO:0032805 [positive regulation of low-density lipoprotein particle receptor catabolic process] GO:0033344 [cholesterol efflux] GO:0033700 [phospholipid efflux] GO:0034361 [very-low-density lipoprotein particle] GO:0034362 [low-density lipoprotein particle] GO:0034363 [intermediate-density lipoprotein particle] GO:0034364 [high-density lipoprotein particle] GO:0034365 [discoidal high-density lipoprotein particle] GO:0034371 [chylomicron remodeling] GO:0034372 [very-low-density lipoprotein particle remodeling] GO:0034374 [low-density lipoprotein particle remodeling] GO:0034375 [high-density lipoprotein particle remodeling] GO:0034378 [chylomicron assembly] GO:0034380 [high-density lipoprotein particle assembly] GO:0034382 [chylomicron remnant clearance] GO:0034384 [high-density lipoprotein particle clearance] GO:0034447 [very-low-density lipoprotein particle clearance] GO:0035641 [locomotory exploration behavior] GO:0042157 [lipoprotein metabolic process] GO:0042158 [lipoprotein biosynthetic process] GO:0042159 [lipoprotein catabolic process] GO:0042311 [vasodilation] GO:0042627 [chylomicron] GO:0042632 [cholesterol homeostasis] GO:0042802 [identical protein binding] GO:0042803 [protein homodimerization activity] GO:0042981 [regulation of apoptotic process] GO:0042982 [amyloid precursor protein metabolic process] GO:0043025 [neuronal cell body] GO:0043083 [synaptic cleft] GO:0043254 [regulation of protein-containing complex assembly] GO:0043395 [heparan sulfate proteoglycan binding] GO:0043407 [negative regulation of MAP kinase activity] GO:0043524 [negative regulation of neuron apoptotic process] GO:0043537 [negative regulation of blood vessel endothelial cell migration] GO:0043687 [post-translational protein modification] GO:0043691 [reverse cholesterol transport] GO:0044267 [cellular protein metabolic process] GO:0044794 [positive regulation by host of viral process] GO:0044877 [protein-containing complex binding] GO:0045088 [regulation of innate immune response] GO:0045541 [negative regulation of cholesterol biosynthetic process] GO:0045807 [positive regulation of endocytosis] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046889 [positive regulation of lipid biosynthetic process] GO:0046907 [intracellular transport] GO:0046911 [metal chelating activity] GO:0046983 [protein dimerization activity] GO:0048156 [tau protein binding] GO:0048168 [regulation of neuronal synaptic plasticity] GO:0048844 [artery morphogenesis] GO:0050709 [negative regulation of protein secretion] GO:0050728 [negative regulation of inflammatory response] GO:0050750 [low-density lipoprotein particle receptor binding] GO:0050790 [regulation of catalytic activity] GO:0050807 [regulation of synapse organization] GO:0051000 [positive regulation of nitric-oxide synthase activity] GO:0051044 [positive regulation of membrane protein ectodomain proteolysis] GO:0051246 [regulation of protein metabolic process] GO:0051651 [maintenance of location in cell] GO:0055088 [lipid homeostasis] GO:0055089 [fatty acid homeostasis] GO:0060228 [phosphatidylcholine-sterol O-acyltransferase activator activity] GO:0060999 [positive regulation of dendritic spine development] GO:0061136 [regulation of proteasomal protein catabolic process] GO:0061771 [response to caloric restriction] GO:0062023 [collagen-containing extracellular matrix] GO:0070062 [extracellular exosome] GO:0070326 [very-low-density lipoprotein particle receptor binding] GO:0070328 [triglyceride homeostasis] GO:0070374 [positive regulation of ERK1 and ERK2 cascade] GO:0071682 [endocytic vesicle lumen] GO:0071813 [lipoprotein particle binding] GO:0071830 [triglyceride-rich lipoprotein particle clearance] GO:0071831 [intermediate-density lipoprotein particle clearance] GO:0072359 [circulatory system development] GO:0072562 [blood microparticle] GO:0090090 [negative regulation of canonical Wnt signaling pathway] GO:0090181 [regulation of cholesterol metabolic process] GO:0090209 [negative regulation of triglyceride metabolic process] GO:0097006 [regulation of plasma lipoprotein particle levels] GO:0097113 [AMPA glutamate receptor clustering] GO:0097114 [NMDA glutamate receptor clustering] GO:0098869 [cellular oxidant detoxification] GO:0098978 [glutamatergic synapse] GO:0120009 [intermembrane lipid transfer] GO:0120020 [cholesterol transfer activity] GO:1900221 [regulation of amyloid-beta clearance] GO:1900223 [positive regulation of amyloid-beta clearance] GO:1900272 [negative regulation of long-term synaptic potentiation] GO:1902430 [negative regulation of amyloid-beta formation] GO:1902952 [positive regulation of dendritic spine maintenance] GO:1902991 [regulation of amyloid precursor protein catabolic process] GO:1902995 [positive regulation of phospholipid efflux] GO:1903002 [positive regulation of lipid transport across blood-brain barrier] GO:1903561 [extracellular vesicle] GO:1905855 [positive regulation of heparan sulfate binding] GO:1905860 [positive regulation of heparan sulfate proteoglycan binding] GO:1905890 [regulation of cellular response to very-low-density lipoprotein particle stimulus] GO:1905906 [regulation of amyloid fibril formation] GO:1905907 [negative regulation of amyloid fibril formation] GO:1905908 [positive regulation of amyloid fibril formation] GO:1990777 [lipoprotein particle] GO:2000822 [regulation of behavioral fear response]
Metabolic proteins MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)