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UniProtKB - Q02410 (APBA1_HUMAN)

Entry version 180 (16 Oct 2019)
Sequence version 3 (17 Oct 2006)
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Protein

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

Gene

APBA1

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

Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta.

<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

Biological processProtein transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-6794361 Neurexins and neuroligins
R-HSA-9609736 Assembly and cell surface presentation of NMDA receptors

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.24.2.2 the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Amyloid-beta A4 precursor protein-binding family A member 1
Alternative name(s):
Adapter protein X11alpha
Neuron-specific X11 protein
Neuronal Munc18-1-interacting protein 1
Short name:
Mint-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:APBA1
Synonyms:MINT1, X11
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic 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_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:578 APBA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602414 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q02410

<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

Cytoplasm, Golgi apparatus, 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_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi608F → V: Diminishes interaction with APP. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		320

Open Targets

More...OpenTargetsi		ENSG00000107282

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24869

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q02410

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		APBA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		116241250

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000646141 – 837Amyloid-beta A4 precursor protein-binding family A member 1Add BLAST837

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 residuei78PhosphoserineBy similarity1
Modified residuei242PhosphoserineBy similarity1
Modified residuei246PhosphoserineBy similarity1
Modified residuei248PhosphoserineCombined sources1
Modified residuei263PhosphoserineCombined sources1
Modified residuei280PhosphoserineBy similarity1
Modified residuei285PhosphoserineBy similarity1
Modified residuei305PhosphothreonineCombined sources1
Modified residuei313PhosphoserineBy similarity1
Modified residuei367PhosphoserineBy similarity1
Modified residuei370PhosphothreonineCombined sources1
Modified residuei401PhosphoserineBy similarity1
Modified residuei403PhosphoserineBy similarity1
Modified residuei408PhosphoserineBy similarity1
Modified residuei568PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q02410

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q02410

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

More...PaxDbi		Q02410

PeptideAtlas

More...PeptideAtlasi		Q02410

PRoteomics IDEntifications database

More...PRIDEi		Q02410

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58088 [Q02410-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q02410

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

More...PhosphoSitePlusi		Q02410

<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

Brain and spinal cord. Isoform 2 is expressed in testis and brain, but not detected in lung, liver or spleen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107282 Expressed in 110 organ(s), highest expression level in dorsolateral prefrontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q02410 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q02410 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA061287

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

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

Part of a multimeric complex containing Munc18-1 and syntaxin-1. Also part of the brain-specific heterotrimeric complex LIN-10/X11-alpha, LIN-2/CASK, and LIN7. Both isoform 1 and isoform 2 bind to the cytoplasmic domain of amyloid protein (APP).

Interacts (via PDZ 1 and 2 domains) with FSPB. Isoform 2, but not isoform 1, interacts (via its truncated PID domain) with active, GTP-bound RAB6A and RAB6B.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		106817, 17 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q02410

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q02410

Protein interaction database and analysis system

More...IntActi		Q02410, 13 interactors

Molecular INTeraction database

More...MINTi		Q02410

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265381

<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

1837
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q02410

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		Q02410

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini457 – 643PIDPROSITE-ProRule annotationAdd BLAST187
Domaini656 – 742PDZ 1PROSITE-ProRule annotationAdd BLAST87
Domaini747 – 822PDZ 2PROSITE-ProRule annotationAdd BLAST76

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>Regioni226 – 314Munc-18-1 bindingAdd BLAST89
Regioni373 – 436LIN-2/CASK bindingAdd BLAST64
Regioni626 – 641Autoinhibitory helix linkerBy similarityAdd BLAST16

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 biasi67 – 70Poly-Glu4
Compositional biasi294 – 328Pro-richAdd BLAST35
Compositional biasi368 – 452Pro-richAdd BLAST85

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Composed of an N-terminal domain that binds Munc18-1 and LIN-2/CASK, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the amyloid-beta precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
The autoinhibitory helix linker occludes the APP binding site.By similarity
The PID domain, truncated by 11 amino acids, as observed in isoform 2, but not full-length, mediates the interaction with RAB6A and RAB6B.1 Publication

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3605 Eukaryota
ENOG410XSBD LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156820

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000033981

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q02410

KEGG Orthology (KO)

More...KOi		K04531

Identification of Orthologs from Complete Genome Data

More...OMAi		MNHLVGP

Database of Orthologous Groups

More...OrthoDBi		436779at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q02410

TreeFam database of animal gene trees

More...TreeFami		TF315245

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR030530 Apba1
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom

The PANTHER Classification System

More...PANTHERi		PTHR12345:SF14 PTHR12345:SF14, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00595 PDZ, 2 hits
PF00640 PID, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00228 PDZ, 2 hits
SM00462 PTB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156 SSF50156, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50106 PDZ, 2 hits
PS01179 PID, 1 hit

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

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

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

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

Isoform 1 (identifier: Q02410-1) [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
MNHLEGSAEV EVTDEAAGGE VNESVEADLE HPEVEEEQQQ PPQQQHYVGR 
        60         70         80         90        100
HQRGRALEDL RAQLGQEEEE RGECLARSAS TESGFHNHTD TAEGDVIAAA 
       110        120        130        140        150
RDGYDAERAQ DPEDESAYAV QYRPEAEEYT EQAEAEHAEA THRRALPNHL 
       160        170        180        190        200
HFHSLEHEEA MNAAYSGYVY THRLFHRGED EPYSEPYADY GGLQEHVYEE 
       210        220        230        240        250
IGDAPELDAR DGLRLYEQER DEAAAYRQEA LGARLHHYDE RSDGESDSPE 
       260        270        280        290        300
KEAEFAPYPR MDSYEQEEDI DQIVAEVKQS MSSQSLDKAA EDMPEAEQDL 
       310        320        330        340        350
ERPPTPAGGR PDSPGLQAPA GQQRAVGPAG GGEAGQRYSK EKRDAISLAI 
       360        370        380        390        400
KDIKEAIEEV KTRTIRSPYT PDEPKEPIWV MRQDISPTRD CDDQRPMDGD 
       410        420        430        440        450
SPSPGSSSPL GAESSSTSLH PSDPVEASTN KESRKSLASF PTYVEVPGPC 
       460        470        480        490        500
DPEDLIDGII FAANYLGSTQ LLSDKTPSKN VRMMQAQEAV SRIKMAQKLA 
       510        520        530        540        550
KSRKKAPEGE SQPMTEVDLF ISTQRIKVLN ADTQETMMDH PLRTISYIAD 
       560        570        580        590        600
IGNIVVLMAR RRMPRSNSQE NVEASHPSQD GKRQYKMICH VFESEDAQLI 
       610        620        630        640        650
AQSIGQAFSV AYQEFLRANG INPEDLSQKE YSDLLNTQDM YNDDLIHFSK 
       660        670        680        690        700
SENCKDVFIE KQKGEILGVV IVESGWGSIL PTVIIANMMH GGPAEKSGKL 
       710        720        730        740        750
NIGDQIMSIN GTSLVGLPLS TCQSIIKGLK NQSRVKLNIV RCPPVTTVLI 
       760        770        780        790        800
RRPDLRYQLG FSVQNGIICS LMRGGIAERG GVRVGHRIIE INGQSVVATP 
       810        820        830 
HEKIVHILSN AVGEIHMKTM PAAMYRLLTA QEQPVYI
Length:837
Mass (Da):92,865
Last modified:October 17, 2006 - v3
<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:i29C3620BBC89534B
GO
Isoform 2 (identifier: Q02410-2) [UniParc]FASTAAdd to basket
Also known as: Mint1_826

The sequence of this isoform differs from the canonical sequence as follows:
     495-505: Missing.

Note: This isoform interacts with RAB6 GTPases.
Show »
Length:826
Mass (Da):91,594
Checksum:iDD7B6C1C6D3D9FE7
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
A0A0D9SFA9A0A0D9SFA9_HUMAN
Amyloid-beta A4 precursor protein-b...
APBA1
122Annotation 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>
A0A0G2JMD7A0A0G2JMD7_HUMAN
Amyloid-beta A4 precursor protein-b...
APBA1
437Annotation score:

Annotation score:1 out of 5

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti164A → V in AAA61307 (PubMed:7678331).Curated1
Sequence conflicti208D → H in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti427 – 429AST → VPI in AAC05304 (PubMed:9395480).Curated3
Sequence conflicti427 – 429AST → VPI in AAA61307 (PubMed:7678331).Curated3
Sequence conflicti522S → L in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti522S → L in AAA61307 (PubMed:7678331).Curated1
Sequence conflicti563M → I in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti563M → I in AAA61307 (PubMed:7678331).Curated1
Sequence conflicti730K → E in AAC05304 (PubMed:9395480).Curated1
Sequence conflicti730K → E in AAA61307 (PubMed:7678331).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_050664184S → A. Corresponds to variant dbSNP:rs34788368Ensembl.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_053518495 – 505Missing in isoform 2. CuratedAdd BLAST11

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
AF029106 mRNA Translation: AAC05304.1
AF047347 mRNA Translation: AAC39766.1
AL353693 Genomic DNA No translation available.
AL355140 Genomic DNA No translation available.
L04953 mRNA Translation: AAA61307.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6630.1 [Q02410-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A47176

NCBI Reference Sequences

More...RefSeqi		NP_001154.2, NM_001163.3 [Q02410-1]
XP_005252025.1, XM_005251968.3 [Q02410-2]
XP_011516919.1, XM_011518617.2 [Q02410-1]
XP_016870159.1, XM_017014670.1 [Q02410-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000265381; ENSP00000265381; ENSG00000107282 [Q02410-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		320

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:320

UCSC genome browser

More...UCSCi		uc004ahh.3 human [Q02410-1]

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
AF029106 mRNA Translation: AAC05304.1
AF047347 mRNA Translation: AAC39766.1
AL353693 Genomic DNA No translation available.
AL355140 Genomic DNA No translation available.
L04953 mRNA Translation: AAA61307.1
CCDSiCCDS6630.1 [Q02410-1]
PIRiA47176
RefSeqiNP_001154.2, NM_001163.3 [Q02410-1]
XP_005252025.1, XM_005251968.3 [Q02410-2]
XP_011516919.1, XM_011518617.2 [Q02410-1]
XP_016870159.1, XM_017014670.1 [Q02410-1]

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
1AQCX-ray2.30A/B453-623[»]
1U37NMR-A655-741[»]
1U38NMR-A655-741[»]
1U39NMR-A743-822[»]
1U3BNMR-A655-837[»]
1X11X-ray2.50A/B453-623[»]
1X45NMR-A656-740[»]
1Y7NNMR-A745-823[»]
SMRiQ02410
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi106817, 17 interactors
CORUMiQ02410
ELMiQ02410
IntActiQ02410, 13 interactors
MINTiQ02410
STRINGi9606.ENSP00000265381

Protein family/group databases

TCDBi8.A.24.2.2 the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family

PTM databases

iPTMnetiQ02410
PhosphoSitePlusiQ02410

Polymorphism and mutation databases

BioMutaiAPBA1
DMDMi116241250

Proteomic databases

jPOSTiQ02410
MassIVEiQ02410
PaxDbiQ02410
PeptideAtlasiQ02410
PRIDEiQ02410
ProteomicsDBi58088 [Q02410-1]

Genome annotation databases

EnsembliENST00000265381; ENSP00000265381; ENSG00000107282 [Q02410-1]
GeneIDi320
KEGGihsa:320
UCSCiuc004ahh.3 human [Q02410-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		320
DisGeNETi320

GeneCards: human genes, protein and diseases

More...GeneCardsi		APBA1
HGNCiHGNC:578 APBA1
HPAiHPA061287
MIMi602414 gene
neXtProtiNX_Q02410
OpenTargetsiENSG00000107282
PharmGKBiPA24869

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3605 Eukaryota
ENOG410XSBD LUCA
GeneTreeiENSGT00940000156820
HOGENOMiHOG000033981
InParanoidiQ02410
KOiK04531
OMAiMNHLVGP
OrthoDBi436779at2759
PhylomeDBiQ02410
TreeFamiTF315245

Enzyme and pathway databases

ReactomeiR-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-6794361 Neurexins and neuroligins
R-HSA-9609736 Assembly and cell surface presentation of NMDA receptors

Miscellaneous databases

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

More...ChiTaRSi		APBA1 human
EvolutionaryTraceiQ02410

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		APBA1

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

More...GenomeRNAii		320
PharosiQ02410

Protein Ontology

More...PROi		PR:Q02410

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107282 Expressed in 110 organ(s), highest expression level in dorsolateral prefrontal cortex
ExpressionAtlasiQ02410 baseline and differential
GenevisibleiQ02410 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030530 Apba1
IPR001478 PDZ
IPR036034 PDZ_sf
IPR011993 PH-like_dom_sf
IPR006020 PTB/PI_dom
PANTHERiPTHR12345:SF14 PTHR12345:SF14, 1 hit
PfamiView protein in Pfam
PF00595 PDZ, 2 hits
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 2 hits
SM00462 PTB, 1 hit
SUPFAMiSSF50156 SSF50156, 2 hits
PROSITEiView protein in PROSITE
PS50106 PDZ, 2 hits
PS01179 PID, 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 nameiAPBA1_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: Q02410
Secondary accession number(s): O14914, O60570, Q5VYR8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: October 17, 2006
Last modified: October 16, 2019
This is version 180 of the entry and version 3 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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