ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!
Search for

UniProtKB/Swiss-Prot entry O00203


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents.
Entry information
Entry name AP3B1_HUMAN
Primary accession number O00203
Secondary accession numbers O00580 Q7Z393 Q9HD66
Integrated into Swiss-Prot on September 26, 2001
Sequence was last modified on May 1, 2000 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 87)
Name and origin of the protein
Protein name AP-3 complex subunit beta-1
Synonyms Adapter-related protein complex 3 subunit beta-1
Adaptor protein complex AP-3 beta-1 subunit
Beta3A-adaptin
Clathrin assembly protein complex 3 beta-1 large chain
Gene name
Name: AP3B1
Synonyms: ADTB3A
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Heart;
DOI=10.1083/jcb.137.4.835; PubMed=9151686 [NCBI, ExPASy, EBI, Israel, Japan]
Simpson F., Peden A.A., Christopoulou L., Robinson M.S.;
"Characterization of the adaptor-related protein complex, AP-3.";
J. Cell Biol. 137:835-845(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PHOSPHORYLATION, AND TISSUE SPECIFICITY.
TISSUE=Pancreas;
DOI=10.1074/jbc.272.24.15078; PubMed=9182526 [NCBI, ExPASy, EBI, Israel, Japan]
Dell'Angelica E.C., Ooi C.E., Bonifacino J.S.;
"Beta3A-adaptin, a subunit of the adaptor-like complex AP-3.";
J. Biol. Chem. 272:15078-15084(1997).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Colon;
DOI=10.1186/1471-2164-8-399; PubMed=17974005 [NCBI, ExPASy, EBI, Israel, Japan]
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Uterus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-42.
TISSUE=Cervix;
Kisseljov F., Petrenko A., Eshilev E., Kisseljova N.;
"Identification of CpG islands hypermethylated in human tumors by the arbitrarily primed-PCR method.";
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276 AND SER-609, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1021/pr0704130; PubMed=18088087 [NCBI, ExPASy, EBI, Israel, Japan]
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, AND MASS SPECTROMETRY.
DOI=10.1016/j.molcel.2008.07.007; PubMed=18691976 [NCBI, ExPASy, EBI, Israel, Japan]
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.;
"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.";
Mol. Cell 31:438-448(2008).
[9]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276; SER-609 AND THR-661, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.0805139105; PubMed=18669648 [NCBI, ExPASy, EBI, Israel, Japan]
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[10]
IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J., Superti-Furga G., Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
[11]
VARIANTS HPS2 390-LEU--GLN-410 DEL AND ARG-580.
DOI=10.1016/S1097-2765(00)80170-7; PubMed=10024875 [NCBI, ExPASy, EBI, Israel, Japan]
Dell'Angelica E.C., Shotelersuk V., Aguilar R.C., Gahl W.A., Bonifacino J.S.;
"Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.";
Mol. Cell 3:11-21(1999).
Comments
  • FUNCTION: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 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.
  • SUBUNIT: Adaptor protein complex 3 (AP-3) is an 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).
  • INTERACTION:
    P49407:ARRB1; NbExp=1; IntAct=EBI-1044383, EBI-743313;
    P32121:ARRB2; NbExp=1; IntAct=EBI-1044383, EBI-714559;
  • SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Golgi apparatus (By similarity). Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex (By similarity).
  • ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.
    Name1
    Isoform IDO00203-1
    This is the isoform sequence displayed in this entry.
    Name2
    Isoform IDO00203-2
    Note: May be due to a competing donor splice site. No experimental confirmation available.
    Features which should be applied to build the isoform sequence: VSP_009233.
  • TISSUE SPECIFICITY: Ubiquitously expressed.
  • PTM: Phosphorylated on serine residues.
  • DISEASE: Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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.
  • SIMILARITY: Belongs to the adaptor complexes large subunit family.
  • WEB RESOURCE: Name=AP3B1base; Note=AP3B1 mutation db; URL="http://bioinf.uta.fi/AP3B1base/";.
  • WEB RESOURCE: Name=Mutations of the ADTB3A gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.com/sci-news/adtb3mut.htm";.
  • WEB RESOURCE: Name=Albinism database (ADB); Note=AP3B1 mutations; URL="http://albinismdb.med.umn.edu/hps2mut.htm";.
  • WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=AP3B1";.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U91931; AAD03778.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U81504; AAB61638.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BX538041; CAD97982.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC038444; AAH38444.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF247736; AAG01739.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00021129; -.
IPI00397887; -.
PIR T50651; T50651.
T50652; T50652.
RefSeq NP_003655.3; -.
UniGene Hs.532091
3D structure databases
ModBase O00203.
Protein-protein interaction databases
DIP DIP:24208N; -.
IntAct O00203; 2.
PTM databases
PhosphoSite O00203; -.
Organism-specific databases
GeneCards GC05M077333; -.
H-InvDB HIX0024835; -.
HGNC HGNC:566; AP3B1.
GenAtlas AP3B1.
MIM 203300; phenotype. [NCBI / EBI]
603401; gene. [NCBI / EBI]
608233; phenotype. [NCBI / EBI]
Orphanet 79430; Hermansky-Pudlak syndrome.
PharmGKB PA24857; -.
Gene expression databases
ArrayExpress O00203; -.
Bgee O00203; -.
CleanEx HS_AP3B1; -.
GermOnline ENSG00000132842; Homo sapiens.
Ontologies
GO
GO:0030665; Cellular component: clathrin coated vesicle membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005794; Cellular component: Golgi apparatus (traceable author statement from ProtInc).
GO:0030117; Cellular component: membrane coat (inferred from electronic annotation from InterPro).
GO:0019903; Molecular function: protein phosphatase binding (inferred from physical interaction from UniProtKB).
GO:0008565; Molecular function: protein transporter activity (inferred from electronic annotation from InterPro).
GO:0006897; Biological process: endocytosis (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR017108; AP3_complex_bsu.
IPR011989; ARM-like.
IPR002553; Clathrin/coatomer_adapt-like_N.
Graphical view of domain structure.
Gene3D G3DSA:1.25.10.10; ARM-like; 1.
Pfam PF01602; Adaptin_N; 1.
Pfam graphical view of domain structure.
PIRSF PIRSF037096; AP3_complex_beta; 1.
Proteomic databases
PRIDE O00203; -.
Genome annotation databases
Ensembl ENSG00000132842; Homo sapiens. [Contig view]
GeneID 8546; -.
KEGG hsa:8546; -.
Phylogenomic databases
HOGENOM O00203; -.
HOVERGEN O00203; -.
Other
NextBio 32018; -.
SOURCE AP3B1; Homo sapiens.
ProtoNet O00203.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Albinism; Alternative splicing; Cytoplasmic vesicle; Disease mutation; Endocytosis; Golgi apparatus; Hermansky-Pudlak syndrome; Membrane; Phosphoprotein; Protein transport; Transport.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
CHAIN   1   1094  1094     AP-3 complex subunit beta-1. PRO_0000193746
COMPBIAS   677    802  126     Glu/Ser-rich. 
MOD_RES   276    276        Phosphoserine. 
MOD_RES   609    609        Phosphoserine. 
MOD_RES   661    661        Phosphothreonine. 
VAR_SEQ   44   1094        Missing (in isoform 2). VSP_009233
VARIANT   390    410  21     Missing (in HPS2). VAR_011595
VARIANT   580    580  1     L -> R (in HPS2). VAR_011596 
CONFLICT   804    804        Missing (in Ref. 1; AAD03778). 
Sequence information
Length: 1094 AA [This is the length of the unprocessed precursor] Molecular weight: 121350 Da [This is the MW of the unprocessed precursor] CRC64: AC683CE18EFE3EE6 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MSSNSFPYNE QSGGGEATEL GQEATSTISP SGAFGLFSSD LKKNEDLKQM LESNKDSAKL 

        70         80         90        100        110        120 
DAMKRIVGMI AKGKNASELF PAVVKNVASK NIEIKKLVYV YLVRYAEEQQ DLALLSISTF 

       130        140        150        160        170        180 
QRALKDPNQL IRASALRVLS SIRVPIIVPI MMLAIKEASA DLSPYVRKNA AHAIQKLYSL 

       190        200        210        220        230        240 
DPEQKEMLIE VIEKLLKDKS TLVAGSVVMA FEEVCPDRID LIHKNYRKLC NLLVDVEEWG 

       250        260        270        280        290        300 
QVVIIHMLTR YARTQFVSPW KEGDELEDNG KNFYESDDDQ KEKTDKKKKP YTMDPDHRLL 

       310        320        330        340        350        360 
IRNTKPLLQS RNAAVVMAVA QLYWHISPKS EAGIISKSLV RLLRSNREVQ YIVLQNIATM 

       370        380        390        400        410        420 
SIQRKGMFEP YLKSFYVRST DPTMIKTLKL EILTNLANEA NISTLLREFQ TYVKSQDKQF 

       430        440        450        460        470        480 
AAATIQTIGR CATNILEVTD TCLNGLVCLL SNRDEIVVAE SVVVIKKLLQ MQPAQHGEII 

       490        500        510        520        530        540 
KHMAKLLDSI TVPVARASIL WLIGENCERV PKIAPDVLRK MAKSFTSEDD LVKLQILNLG 

       550        560        570        580        590        600 
AKLYLTNSKQ TKLLTQYILN LGKYDQNYDI RDRTRFIRQL IVPNEKSGAL SKYAKKIFLA 

       610        620        630        640        650        660 
QKPAPLLESP FKDRDHFQLG TLSHTLNIKA TGYLELSNWP EVAPDPSVRN VEVIELAKEW 

       670        680        690        700        710        720 
TPAGKAKQEN SAKKFYSESE EEEDSSDSSS DSESESGSES GEQGESGEEG DSNEDSSEDS 

       730        740        750        760        770        780 
SSEQDSESGR ESGLENKRTA KRNSKAKGKS DSEDGEKENE KSKTSDSSND ESSSIEDSSS 

       790        800        810        820        830        840 
DSESESEPES ESESRRVTKE KEKKTKQDRT PLTKDVSLLD LDDFNPVSTP VALPTPALSP 

       850        860        870        880        890        900 
SLMADLEGLH LSTSSSVISV STPAFVPTKT HVLLHRMSGK GLAAHYFFPR QPCIFGDKMV 

       910        920        930        940        950        960 
SIQITLNNTT DRKIENIHIG EKKLPIGMKM HVFNPIDSLE PEGSITVSMG IDFCDSTQTA 

       970        980        990       1000       1010       1020 
SFQLCTKDDC FNVNIQPPVG ELLLPVAMSE KDFKKEQGVL TGMNETSAVI IAAPQNFTPS 

      1030       1040       1050       1060       1070       1080 
VIFQKVVNVA NVGAVPSGQD NIHRFAAKTV HSGSLMLVTV ELKEGSTAQL IINTEKTVIG 

      1090 
SVLLRELKPV LSQG 

O00203 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

BLAST logo BLAST submission on ExPASy/SIB
or at NCBI (USA)
Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
PROSITE logo ScanProsite, MotifScan SWISS-MODEL Submit a homology modeling request to SWISS-MODEL
NPSA logo NPSA Sequence analysis tools

ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
 Hosted by ch flag SIB Switzerland Mirror sites: Australia  Brazil  Canada  China  Korea
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!