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UniProtKB - O00213 (APBB1_HUMAN)

Entry version 191 (07 Oct 2020)
Sequence version 2 (01 Jun 1998)
Previous versions | rss
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Protein

Amyloid-beta A4 precursor protein-binding family B member 1

Gene

APBB1

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

Transcription coregulator that can have both coactivator and corepressor functions. Adapter protein that forms a transcriptionally active complex with the gamma-secretase-derived amyloid precursor protein (APP) intracellular domain. Plays a central role in the response to DNA damage by translocating to the nucleus and inducing apoptosis. May act by specifically recognizing and binding histone H2AX phosphorylated on 'Tyr-142' (H2AXY142ph) at double-strand breaks (DSBs), recruiting other pro-apoptosis factors such as MAPK8/JNK1. Required for histone H4 acetylation at double-strand breaks (DSBs). Its ability to specifically bind modified histones and chromatin modifying enzymes such as KAT5/TIP60, probably explains its transcription activation activity. Functions in association with TSHZ3, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s).6 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

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 functionActivator, Chromatin regulator, Repressor
Biological processApoptosis, DNA damage, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00213

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O00213

SIGNOR Signaling Network Open Resource

More...SIGNORi		O00213

<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:
Amyloid-beta A4 precursor protein-binding family B member 1
Alternative name(s):
Protein Fe65
<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:APBB1
Synonyms:FE65, RIR
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000166313.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:581, APBB1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602709, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00213

<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

Cell membrane, Cell projection, Cytoplasm, Membrane, Nucleus

<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

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>Mutagenesisi117Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi234Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi269 – 271YYW → AAA: Impairs transcriptional activation and inhibits binding to ABL1. 1 Publication3
Mutagenesisi269Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi270Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi403Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi467Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi546Y → F: No effect on phosphorylation by ABL1. 1 Publication1
Mutagenesisi547Y → F: Abrogates phosphorylation and stimulation of transcription by ABL1, and increases the interaction with RASD1/DEXRAS1. 2 Publications1
Mutagenesisi658Y → F: No effect on phosphorylation by ABL1. 1

Organism-specific databases

DisGeNET

More...DisGeNETi		322

Open Targets

More...OpenTargetsi		ENSG00000166313

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24873

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00213, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		APBB1

<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 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_00000760491 – 710Amyloid-beta A4 precursor protein-binding family B member 1Add BLAST710

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei517PhosphoserineBy similarity1
Modified residuei547Phosphotyrosine; by ABL12 Publications1
Modified residuei610Phosphoserine; by SGK1By similarity1

<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

Polyubiquitination by RNF157 leads to degradation by the proteasome (PubMed:25342469).1 Publication
Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). Phosphorylated following nuclear translocation. Phosphorylation at Tyr-547 by ABL1 enhances transcriptional activation activity and reduces the affinity for RASD1/DEXRAS1.By similarity2 Publications

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00213

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00213

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00213

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

More...PaxDbi		O00213

PeptideAtlas

More...PeptideAtlasi		O00213

PRoteomics IDEntifications database

More...PRIDEi		O00213

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		47783 [O00213-1]
47784 [O00213-2]
6474

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00213

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

More...PhosphoSitePlusi		O00213

<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

Highly expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000166313, Expressed in right hemisphere of cerebellum and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00213, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00213, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000166313, Tissue enhanced (brain)

<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

Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP.

Interacts (via PID domain 2) with APP (with the intracellular domain of the amyloid-beta precursor protein).

Interacts (via PID domain 2) with RASD1/DEXRAS1; impairs the transcription activation activity.

Interacts (via PID domain 1) with KAT5/TIP60.

Interacts (via the WW domain) with the proline-rich region of APBB1IP.

Interacts with TSHZ1 and TSHZ2 (By similarity).

Interacts (via the WW domain) with histone H2AX (when phosphorylated on 'Tyr-142') and the proline-rich region of ENAH.

Interacts with MAPK8.

Interacts (via PID domain 1) with TSHZ3 (via homeobox domain).

Interacts with SET.

Found in a trimeric complex with HDAC1 and TSHZ3; the interaction between HDAC1 and APBB1 is mediated by TSHZ3.

Interacts (via WWW domain) with NEK6.

Interacts (via WWW domain) with ABL1.

Interacts with RNF157 (PubMed:25342469).

By similarity9 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		106819, 110 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O00213

Database of interacting proteins

More...DIPi		DIP-30903N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O00213

Protein interaction database and analysis system

More...IntActi		O00213, 156 interactors

Molecular INTeraction database

More...MINTi		O00213

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000477213

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00213, protein

<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

Secondary structure

1710
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		O00213

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O00213

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O00213

<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>Domaini253 – 285WWPROSITE-ProRule annotationAdd BLAST33
Domaini370 – 509PID 1PROSITE-ProRule annotationAdd BLAST140
Domaini542 – 699PID 2PROSITE-ProRule annotationAdd BLAST158

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi158 – 171Glu-richAdd BLAST14

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QT08, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000000002

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_021196_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00213

KEGG Orthology (KO)

More...KOi		K04529

Database of Orthologous Groups

More...OrthoDBi		437627at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00213

TreeFam database of animal gene trees

More...TreeFami		TF314331

Family and domain databases

Conserved Domains Database

More...CDDi		cd00201, WW, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039576, Fe65
IPR011993, PH-like_dom_sf
IPR006020, PTB/PI_dom
IPR001202, WW_dom
IPR036020, WW_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR14058, PTHR14058, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00640, PID, 2 hits
PF00397, WW, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00462, PTB, 2 hits
SM00456, WW, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51045, SSF51045, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01179, PID, 2 hits
PS01159, WW_DOMAIN_1, 1 hit
PS50020, WW_DOMAIN_2, 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>Sequences (6+)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.

This entry describes 6 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00213-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSVPSSLSQS AINANSHGGP ALSLPLPLHA AHNQLLNAKL QATAVGPKDL 
        60         70         80         90        100
RSAMGEGGGP EPGPANAKWL KEGQNQLRRA ATAHRDQNRN VTLTLAEEAS 
       110        120        130        140        150
QEPEMAPLGP KGLIHLYSEL ELSAHNAANR GLRGPGLIIS TQEQGPDEGE 
       160        170        180        190        200
EKAAGEAEEE EEDDDDEEEE EDLSSPPGLP EPLESVEAPP RPQALTDGPR 
       210        220        230        240        250
EHSKSASLLF GMRNSAASDE DSSWATLSQG SPSYGSPEDT DSFWNPNAFE 
       260        270        280        290        300
TDSDLPAGWM RVQDTSGTYY WHIPTGTTQW EPPGRASPSQ GSSPQEESQL 
       310        320        330        340        350
TWTGFAHGEG FEDGEFWKDE PSDEAPMELG LKEPEEGTLT FPAQSLSPEP 
       360        370        380        390        400
LPQEEEKLPP RNTNPGIKCF AVRSLGWVEM TEEELAPGRS SVAVNNCIRQ 
       410        420        430        440        450
LSYHKNNLHD PMSGGWGEGK DLLLQLEDET LKLVEPQSQA LLHAQPIISI 
       460        470        480        490        500
RVWGVGRDSG RERDFAYVAR DKLTQMLKCH VFRCEAPAKN IATSLHEICS 
       510        520        530        540        550
KIMAERRNAR CLVNGLSLDH SKLVDVPFQV EFPAPKNELV QKFQVYYLGN 
       560        570        580        590        600
VPVAKPVGVD VINGALESVL SSSSREQWTP SHVSVAPATL TILHQQTEAV 
       610        620        630        640        650
LGECRVRFLS FLAVGRDVHT FAFIMAAGPA SFCCHMFWCE PNAASLSEAV 
       660        670        680        690        700
QAACMLRYQK CLDARSQAST SCLPAPPAES VARRVGWTVR RGVQSLWGSL 
       710
KPKRLGAHTP
Length:710
Mass (Da):77,244
Last modified:June 1, 1998 - 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:iFD4A2EF7E8D8E884
GO
Isoform 2 (identifier: O00213-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     462-463: Missing.

Show »
Length:708
Mass (Da):76,959
Checksum:iFC578B7688BCC1A0
GO
Isoform 3 (identifier: O00213-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-213: Missing.
     214-240: NSAASDEDSSWATLSQGSPSYGSPEDT → MSAMFSQDFFLAIILQDSSA
     462-463: Missing.

Show »
Length:488
Mass (Da):53,927
Checksum:i72DB1DFEA0886C91
GO
Isoform 4 (identifier: O00213-4) [UniParc]FASTAAdd to basket
Also known as: p60Fe65

The sequence of this isoform differs from the canonical sequence as follows:
     1-259: Missing.

Note: Expressed preferentially in the brain.Curated
Show »
Length:451
Mass (Da):49,857
Checksum:i14AE683C4BD3A6D5
GO
Isoform 5 (identifier: O00213-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-213: Missing.
     214-240: NSAASDEDSSWATLSQGSPSYGSPEDT → MSAMFSQDFFLAIILQDSSA

Show »
Length:490
Mass (Da):54,212
Checksum:i1996107B7E50C0B0
GO
Isoform 6 (identifier: O00213-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-240: MSVPSSLSQS...SPSYGSPEDT → MTQMR

Show »
Length:475
Mass (Da):52,656
Checksum:iC01AD5CED5941D94
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KPL8J3KPL8_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB1
710Annotation 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>
V9GY97V9GY97_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB1
261Annotation 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>
A0A087X0V7A0A087X0V7_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB1
451Annotation 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>
A0A087WYH9A0A087WYH9_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB1
475Annotation 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>
A0A075B7G8A0A075B7G8_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB1
706Annotation 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>
V9GYD5V9GYD5_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB1
87Annotation 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>
V9GYR7V9GYR7_HUMAN
Amyloid-beta A4 precursor protein-b...
APBB1
235Annotation 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 CAD98057 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti367I → T in BAH11532 (PubMed:14702039).Curated1
Sequence conflicti493T → A in BAH11532 (PubMed:14702039).Curated1

Natural variant

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_014444327M → V. Corresponds to variant dbSNP:rs1800423EnsemblClinVar.1
Natural variantiVAR_014445396N → S. Corresponds to variant dbSNP:rs1800425Ensembl.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_0474591 – 259Missing in isoform 4. 2 PublicationsAdd BLAST259
Alternative sequenceiVSP_0547091 – 240MSVPS…SPEDT → MTQMR in isoform 6. 1 PublicationAdd BLAST240
Alternative sequenceiVSP_0453261 – 213Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST213
Alternative sequenceiVSP_045327214 – 240NSAAS…SPEDT → MSAMFSQDFFLAIILQDSSA in isoform 3 and isoform 5. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_011658462 – 463Missing in isoform 2 and isoform 3. 2 Publications2

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
L77864 mRNA Translation: AAB93631.1
AF029234, AF047835 Genomic DNA Translation: AAC79942.1
EF103274 mRNA Translation: ABL07489.3
AK293550 mRNA Translation: BAH11531.1
AK293554 mRNA Translation: BAH11532.1
AK293643 mRNA Translation: BAH11554.1
AK295241 mRNA Translation: BAH12016.1
BX538185 mRNA Translation: CAD98057.1 Different initiation.
AC068733 Genomic DNA No translation available.
AC084337 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68723.1
CH471064 Genomic DNA Translation: EAW68724.1
BC010854 mRNA Translation: AAH10854.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31410.1 [O00213-2]
CCDS58114.1 [O00213-3]
CCDS66015.1 [O00213-4]
CCDS66016.1 [O00213-6]
CCDS66017.1 [O00213-5]
CCDS66018.1 [O00213-1]

NCBI Reference Sequences

More...RefSeqi		NP_001155.1, NM_001164.4 [O00213-1]
NP_001244248.1, NM_001257319.2 [O00213-5]
NP_001244249.1, NM_001257320.2 [O00213-4]
NP_001244250.1, NM_001257321.2 [O00213-4]
NP_001244252.1, NM_001257323.2 [O00213-3]
NP_001244254.1, NM_001257325.2 [O00213-6]
NP_001244255.1, NM_001257326.2 [O00213-4]
NP_663722.1, NM_145689.2 [O00213-2]
XP_011518342.1, XM_011520040.2
XP_016873130.1, XM_017017641.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000299402; ENSP00000299402; ENSG00000166313 [O00213-2]
ENST00000311051; ENSP00000311912; ENSG00000166313 [O00213-2]
ENST00000530885; ENSP00000433338; ENSG00000166313 [O00213-3]
ENST00000608394; ENSP00000476442; ENSG00000166313 [O00213-4]
ENST00000608645; ENSP00000476646; ENSG00000166313 [O00213-4]
ENST00000608655; ENSP00000476846; ENSG00000166313 [O00213-5]
ENST00000608704; ENSP00000476871; ENSG00000166313 [O00213-4]
ENST00000609331; ENSP00000477069; ENSG00000166313 [O00213-6]
ENST00000609360; ENSP00000477213; ENSG00000166313 [O00213-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		322

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:322

UCSC genome browser

More...UCSCi		uc001mdb.4, human [O00213-1]

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
L77864 mRNA Translation: AAB93631.1
AF029234, AF047835 Genomic DNA Translation: AAC79942.1
EF103274 mRNA Translation: ABL07489.3
AK293550 mRNA Translation: BAH11531.1
AK293554 mRNA Translation: BAH11532.1
AK293643 mRNA Translation: BAH11554.1
AK295241 mRNA Translation: BAH12016.1
BX538185 mRNA Translation: CAD98057.1 Different initiation.
AC068733 Genomic DNA No translation available.
AC084337 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68723.1
CH471064 Genomic DNA Translation: EAW68724.1
BC010854 mRNA Translation: AAH10854.1
CCDSiCCDS31410.1 [O00213-2]
CCDS58114.1 [O00213-3]
CCDS66015.1 [O00213-4]
CCDS66016.1 [O00213-6]
CCDS66017.1 [O00213-5]
CCDS66018.1 [O00213-1]
RefSeqiNP_001155.1, NM_001164.4 [O00213-1]
NP_001244248.1, NM_001257319.2 [O00213-5]
NP_001244249.1, NM_001257320.2 [O00213-4]
NP_001244250.1, NM_001257321.2 [O00213-4]
NP_001244252.1, NM_001257323.2 [O00213-3]
NP_001244254.1, NM_001257325.2 [O00213-6]
NP_001244255.1, NM_001257326.2 [O00213-4]
NP_663722.1, NM_145689.2 [O00213-2]
XP_011518342.1, XM_011520040.2
XP_016873130.1, XM_017017641.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E45NMR-A241-290[»]
2HO2X-ray1.33A253-289[»]
2IDHX-ray2.28A/B/C/D/E/F/G/H253-289[»]
2OEIX-ray1.35A253-289[»]
3D8DX-ray2.20A/B366-505[»]
3D8EX-ray2.80A/B/C/D366-505[»]
3D8FX-ray2.70A/B/C/D366-505[»]
3DXCX-ray2.10A/C534-667[»]
3DXDX-ray2.20A/C534-667[»]
3DXEX-ray2.00A/C534-667[»]
5NQHX-ray2.60A/B/C/D534-667[»]
BMRBiO00213
SMRiO00213
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106819, 110 interactors
CORUMiO00213
DIPiDIP-30903N
ELMiO00213
IntActiO00213, 156 interactors
MINTiO00213
STRINGi9606.ENSP00000477213

PTM databases

iPTMnetiO00213
PhosphoSitePlusiO00213

Polymorphism and mutation databases

BioMutaiAPBB1

Proteomic databases

jPOSTiO00213
MassIVEiO00213
MaxQBiO00213
PaxDbiO00213
PeptideAtlasiO00213
PRIDEiO00213
ProteomicsDBi47783 [O00213-1]
47784 [O00213-2]
6474

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23808, 393 antibodies

The DNASU plasmid repository

More...DNASUi		322

Genome annotation databases

EnsembliENST00000299402; ENSP00000299402; ENSG00000166313 [O00213-2]
ENST00000311051; ENSP00000311912; ENSG00000166313 [O00213-2]
ENST00000530885; ENSP00000433338; ENSG00000166313 [O00213-3]
ENST00000608394; ENSP00000476442; ENSG00000166313 [O00213-4]
ENST00000608645; ENSP00000476646; ENSG00000166313 [O00213-4]
ENST00000608655; ENSP00000476846; ENSG00000166313 [O00213-5]
ENST00000608704; ENSP00000476871; ENSG00000166313 [O00213-4]
ENST00000609331; ENSP00000477069; ENSG00000166313 [O00213-6]
ENST00000609360; ENSP00000477213; ENSG00000166313 [O00213-1]
GeneIDi322
KEGGihsa:322
UCSCiuc001mdb.4, human [O00213-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		322
DisGeNETi322
EuPathDBiHostDB:ENSG00000166313.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		APBB1
HGNCiHGNC:581, APBB1
HPAiENSG00000166313, Tissue enhanced (brain)
MIMi602709, gene
neXtProtiNX_O00213
OpenTargetsiENSG00000166313
PharmGKBiPA24873

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QT08, Eukaryota
GeneTreeiENSGT00390000000002
HOGENOMiCLU_021196_0_0_1
InParanoidiO00213
KOiK04529
OrthoDBi437627at2759
PhylomeDBiO00213
TreeFamiTF314331

Enzyme and pathway databases

PathwayCommonsiO00213
ReactomeiR-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
SignaLinkiO00213
SIGNORiO00213

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		322, 1 hit in 883 CRISPR screens

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

More...ChiTaRSi		APBB1, human
EvolutionaryTraceiO00213

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		APBB1

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

More...GenomeRNAii		322
PharosiO00213, Tbio

Protein Ontology

More...PROi		PR:O00213
RNActiO00213, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000166313, Expressed in right hemisphere of cerebellum and 213 other tissues
ExpressionAtlasiO00213, baseline and differential
GenevisibleiO00213, HS

Family and domain databases

CDDicd00201, WW, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR039576, Fe65
IPR011993, PH-like_dom_sf
IPR006020, PTB/PI_dom
IPR001202, WW_dom
IPR036020, WW_dom_sf
PANTHERiPTHR14058, PTHR14058, 1 hit
PfamiView protein in Pfam
PF00640, PID, 2 hits
PF00397, WW, 1 hit
SMARTiView protein in SMART
SM00462, PTB, 2 hits
SM00456, WW, 1 hit
SUPFAMiSSF51045, SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS01179, PID, 2 hits
PS01159, WW_DOMAIN_1, 1 hit
PS50020, WW_DOMAIN_2, 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 nameiAPBB1_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: O00213
Secondary accession number(s): A1E379
, A6NH82, A6NL69, B7Z1J5, B7Z1J6, B7Z2Y0, D3DQT2, Q7Z324, Q96A93, V9GYK0, V9GYT4
<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: January 11, 2001
Last sequence update: June 1, 1998
Last modified: October 7, 2020
This is version 191 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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