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UniProtKB - O00203 (AP3B1_HUMAN)

Protein

AP-3 complex subunit beta-1

Gene

AP3B1

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

Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

<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

  • GTP-dependent protein binding Source: ParkinsonsUK-UCL
  • protein phosphatase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the 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-432722 Golgi Associated Vesicle Biogenesis
R-HSA-6802952 Signaling by BRAF and RAF fusions

<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:
AP-3 complex subunit beta-1
Alternative name(s):
Adaptor protein complex AP-3 subunit beta-1
Adaptor-related protein complex 3 subunit beta-1
Beta-3A-adaptin
Clathrin assembly protein complex 3 beta-1 large chain
<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:AP3B1
Synonyms:ADTB3A
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000132842.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:566 AP3B1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603401 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00203

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hermansky-Pudlak syndrome 2 (HPS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.
See also OMIM:608233
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_011595390 – 410Missing in HPS2. 1 PublicationAdd BLAST21
Natural variantiVAR_011596580L → R in HPS2. 1 PublicationCorresponds to variant dbSNP:rs121908904EnsemblClinVar.1

Keywords - Diseasei

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		8546

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

More...GeneReviewsi		AP3B1

MalaCards human disease database

More...MalaCardsi		AP3B1
MIMi203300 phenotype
608233 phenotype

Open Targets

More...OpenTargetsi		ENSG00000132842

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

More...Orphaneti		183678 Hermansky-Pudlak syndrome with neutropenia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24857

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AP3B1

<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_00001937461 – 1094AP-3 complex subunit beta-1Add BLAST1094

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 residuei276PhosphoserineCombined sources1
Modified residuei609PhosphoserineCombined sources1
Modified residuei750PhosphoserineCombined sources1
Modified residuei752PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Phosphorylated on serine residues.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O00203

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00203

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00203

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

More...PaxDbi		O00203

PeptideAtlas

More...PeptideAtlasi		O00203

PRoteomics IDEntifications database

More...PRIDEi		O00203

ProteomicsDB human proteome resource

More...ProteomicsDBi		47775

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00203

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

More...PhosphoSitePlusi		O00203

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O00203

<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

Ubiquitously expressed.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000132842 Expressed in 224 organ(s), highest expression level in tendon of biceps brachii

CleanEx database of gene expression profiles

More...CleanExi		HS_AP3B1

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00203 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00203 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA038737
HPA045458

<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

AP-3 associates with the BLOC-1 complex (By similarity). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2).By similarity

<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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114116, 71 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O00203

Database of interacting proteins

More...DIPi		DIP-24208N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O00203

Protein interaction database and analysis system

More...IntActi		O00203, 20 interactors

Molecular INTeraction database

More...MINTi		O00203

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000255194

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O00203

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

More...SMRi		O00203

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

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 biasi677 – 802Glu/Ser-richAdd BLAST126

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the adaptor complexes large subunit family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1060 Eukaryota
COG5096 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157603

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000033978

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG050519

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00203

KEGG Orthology (KO)

More...KOi		K12397

Identification of Orthologs from Complete Genome Data

More...OMAi		WHLAPKS

Database of Orthologous Groups

More...OrthoDBi		323029at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00203

TreeFam database of animal gene trees

More...TreeFami		TF314605

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026740 AP3_beta
IPR029394 AP3B1_Ser
IPR029390 AP3B_C
IPR026739 AP_beta
IPR016024 ARM-type_fold
IPR015151 B-adaptin_app_sub_C
IPR002553 Clathrin/coatomer_adapt-like_N

The PANTHER Classification System

More...PANTHERi		PTHR11134 PTHR11134, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01602 Adaptin_N, 1 hit
PF14796 AP3B1_C, 1 hit
PF14797 SEEEED, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037096 AP3_complex_beta, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01355 AP3B1_C, 1 hit
SM01020 B2-adapt-app_C, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 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>.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O00203-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MSSNSFPYNE QSGGGEATEL GQEATSTISP SGAFGLFSSD LKKNEDLKQM 
        60         70         80         90        100
LESNKDSAKL DAMKRIVGMI AKGKNASELF PAVVKNVASK NIEIKKLVYV 
       110        120        130        140        150
YLVRYAEEQQ DLALLSISTF QRALKDPNQL IRASALRVLS SIRVPIIVPI 
       160        170        180        190        200
MMLAIKEASA DLSPYVRKNA AHAIQKLYSL DPEQKEMLIE VIEKLLKDKS 
       210        220        230        240        250
TLVAGSVVMA FEEVCPDRID LIHKNYRKLC NLLVDVEEWG QVVIIHMLTR 
       260        270        280        290        300
YARTQFVSPW KEGDELEDNG KNFYESDDDQ KEKTDKKKKP YTMDPDHRLL 
       310        320        330        340        350
IRNTKPLLQS RNAAVVMAVA QLYWHISPKS EAGIISKSLV RLLRSNREVQ 
       360        370        380        390        400
YIVLQNIATM SIQRKGMFEP YLKSFYVRST DPTMIKTLKL EILTNLANEA 
       410        420        430        440        450
NISTLLREFQ TYVKSQDKQF AAATIQTIGR CATNILEVTD TCLNGLVCLL 
       460        470        480        490        500
SNRDEIVVAE SVVVIKKLLQ MQPAQHGEII KHMAKLLDSI TVPVARASIL 
       510        520        530        540        550
WLIGENCERV PKIAPDVLRK MAKSFTSEDD LVKLQILNLG AKLYLTNSKQ 
       560        570        580        590        600
TKLLTQYILN LGKYDQNYDI RDRTRFIRQL IVPNVKSGAL SKYAKKIFLA 
       610        620        630        640        650
QKPAPLLESP FKDRDHFQLG TLSHTLNIKA TGYLELSNWP EVAPDPSVRN 
       660        670        680        690        700
VEVIELAKEW TPAGKAKQEN SAKKFYSESE EEEDSSDSSS DSESESGSES 
       710        720        730        740        750
GEQGESGEEG DSNEDSSEDS SSEQDSESGR ESGLENKRTA KRNSKAKGKS 
       760        770        780        790        800
DSEDGEKENE KSKTSDSSND ESSSIEDSSS DSESESEPES ESESRRVTKE 
       810        820        830        840        850
KEKKTKQDRT PLTKDVSLLD LDDFNPVSTP VALPTPALSP SLMADLEGLH 
       860        870        880        890        900
LSTSSSVISV STPAFVPTKT HVLLHRMSGK GLAAHYFFPR QPCIFGDKMV 
       910        920        930        940        950
SIQITLNNTT DRKIENIHIG EKKLPIGMKM HVFNPIDSLE PEGSITVSMG 
       960        970        980        990       1000
IDFCDSTQTA SFQLCTKDDC FNVNIQPPVG ELLLPVAMSE KDFKKEQGVL 
      1010       1020       1030       1040       1050
TGMNETSAVI IAAPQNFTPS VIFQKVVNVA NVGAVPSGQD NIHRFAAKTV 
      1060       1070       1080       1090 
HSGSLMLVTV ELKEGSTAQL IINTEKTVIG SVLLRELKPV LSQG
Length:1,094
Mass (Da):121,320
Last modified:July 28, 2009 - 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:iAC683CE18EF90555
GO
Isoform 2 (identifier: O00203-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.

Note: No experimental confirmation available.
Show »
Length:1,045
Mass (Da):116,195
Checksum:i28C0DFA3E2603570
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YBD0H0YBD0_HUMAN
AP-3 complex subunit beta-1
AP3B1
154Annotation 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 CAD97982 differs from that shown. Wrong choice of CDS.Curated
The sequence CAD97982 differs from that shown. Reason: Frameshift at position 1011.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 conflicti168K → R in CAD97982 (PubMed:17974005).Curated1
Sequence conflicti379S → P in CAD97982 (PubMed:17974005).Curated1
Sequence conflicti804Missing in AAD03778 (PubMed:9151686).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011595390 – 410Missing in HPS2. 1 PublicationAdd BLAST21
Natural variantiVAR_011596580L → R in HPS2. 1 PublicationCorresponds to variant dbSNP:rs121908904EnsemblClinVar.1
Natural variantiVAR_058404585V → ECombined sources4 PublicationsCorresponds to variant dbSNP:rs6453373EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0547081 – 49Missing in isoform 2. 1 PublicationAdd BLAST49

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
U91931 mRNA Translation: AAD03778.1
U81504 mRNA Translation: AAB61638.1
BX538041 mRNA Translation: CAD97982.1 Sequence problems.
AC024568 Genomic DNA No translation available.
AC024578 Genomic DNA No translation available.
AC104108 Genomic DNA No translation available.
AC112197 Genomic DNA No translation available.
BC038444 mRNA Translation: AAH38444.1
AF247736 Genomic DNA Translation: AAG01739.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4041.1 [O00203-1]
CCDS64186.1 [O00203-3]

Protein sequence database of the Protein Information Resource

More...PIRi		T50651
T50652

NCBI Reference Sequences

More...RefSeqi		NP_001258698.1, NM_001271769.1 [O00203-3]
NP_003655.3, NM_003664.4 [O00203-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.532091

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000255194; ENSP00000255194; ENSG00000132842 [O00203-1]
ENST00000519295; ENSP00000430597; ENSG00000132842 [O00203-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		8546

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:8546

UCSC genome browser

More...UCSCi		uc003kfj.5 human [O00203-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

AP3B1base

AP3B1 mutation db

Mutations of the ADTB3A gene

Retina International's Scientific Newsletter

Albinism database (ADB)

AP3B1 mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91931 mRNA Translation: AAD03778.1
U81504 mRNA Translation: AAB61638.1
BX538041 mRNA Translation: CAD97982.1 Sequence problems.
AC024568 Genomic DNA No translation available.
AC024578 Genomic DNA No translation available.
AC104108 Genomic DNA No translation available.
AC112197 Genomic DNA No translation available.
BC038444 mRNA Translation: AAH38444.1
AF247736 Genomic DNA Translation: AAG01739.1
CCDSiCCDS4041.1 [O00203-1]
CCDS64186.1 [O00203-3]
PIRiT50651
T50652
RefSeqiNP_001258698.1, NM_001271769.1 [O00203-3]
NP_003655.3, NM_003664.4 [O00203-1]
UniGeneiHs.532091

3D structure databases

ProteinModelPortaliO00203
SMRiO00203
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114116, 71 interactors
CORUMiO00203
DIPiDIP-24208N
ELMiO00203
IntActiO00203, 20 interactors
MINTiO00203
STRINGi9606.ENSP00000255194

PTM databases

iPTMnetiO00203
PhosphoSitePlusiO00203
SwissPalmiO00203

Polymorphism and mutation databases

BioMutaiAP3B1

Proteomic databases

EPDiO00203
jPOSTiO00203
MaxQBiO00203
PaxDbiO00203
PeptideAtlasiO00203
PRIDEiO00203
ProteomicsDBi47775

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		8546
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255194; ENSP00000255194; ENSG00000132842 [O00203-1]
ENST00000519295; ENSP00000430597; ENSG00000132842 [O00203-3]
GeneIDi8546
KEGGihsa:8546
UCSCiuc003kfj.5 human [O00203-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8546
DisGeNETi8546
EuPathDBiHostDB:ENSG00000132842.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		AP3B1
GeneReviewsiAP3B1
HGNCiHGNC:566 AP3B1
HPAiHPA038737
HPA045458
MalaCardsiAP3B1
MIMi203300 phenotype
603401 gene
608233 phenotype
neXtProtiNX_O00203
OpenTargetsiENSG00000132842
Orphaneti183678 Hermansky-Pudlak syndrome with neutropenia
PharmGKBiPA24857

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1060 Eukaryota
COG5096 LUCA
GeneTreeiENSGT00940000157603
HOGENOMiHOG000033978
HOVERGENiHBG050519
InParanoidiO00203
KOiK12397
OMAiWHLAPKS
OrthoDBi323029at2759
PhylomeDBiO00203
TreeFamiTF314605

Enzyme and pathway databases

ReactomeiR-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-6802952 Signaling by BRAF and RAF fusions

Miscellaneous databases

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

More...ChiTaRSi		AP3B1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AP3B1

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

More...GenomeRNAii		8546

Protein Ontology

More...PROi		PR:O00203

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000132842 Expressed in 224 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_AP3B1
ExpressionAtlasiO00203 baseline and differential
GenevisibleiO00203 HS

Family and domain databases

InterProiView protein in InterPro
IPR026740 AP3_beta
IPR029394 AP3B1_Ser
IPR029390 AP3B_C
IPR026739 AP_beta
IPR016024 ARM-type_fold
IPR015151 B-adaptin_app_sub_C
IPR002553 Clathrin/coatomer_adapt-like_N
PANTHERiPTHR11134 PTHR11134, 1 hit
PfamiView protein in Pfam
PF01602 Adaptin_N, 1 hit
PF14796 AP3B1_C, 1 hit
PF14797 SEEEED, 1 hit
PIRSFiPIRSF037096 AP3_complex_beta, 1 hit
SMARTiView protein in SMART
SM01355 AP3B1_C, 1 hit
SM01020 B2-adapt-app_C, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiAP3B1_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: O00203
Secondary accession number(s): E5RJ68
, O00580, Q7Z393, Q9HD66
<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: September 26, 2001
Last sequence update: July 28, 2009
Last modified: January 16, 2019
This is version 181 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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