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O00203 (AP3B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 140. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
AP-3 complex subunit beta-1
Alternative name(s):
Adapter-related protein complex 3 subunit beta-1
Adaptor protein complex AP-3 subunit beta-1
Beta-3A-adaptin
Clathrin assembly protein complex 3 beta-1 large chain
Gene names
Name:AP3B1
Synonyms:ADTB3A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1094 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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).

Subcellular location

Golgi apparatus. Cytoplasmic vesicleclathrin-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.

Tissue specificity

Ubiquitously expressed. Ref.1 Ref.2

Post-translational modification

Phosphorylated on serine residues. Ref.2

Involvement in disease

Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

Sequence similarities

Belongs to the adaptor complexes large subunit family.

Sequence caution

The sequence CAD97982.1 differs from that shown. Reason: Frameshift at position 1011.

The sequence CAD97982.1 differs from that shown. Reason: Wrong choice of CDS.

Ontologies

Keywords
   Biological processProtein transport
Transport
   Cellular componentCytoplasmic vesicle
Golgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseAlbinism
Disease mutation
Hermansky-Pudlak syndrome
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanterograde axon cargo transport

Inferred from sequence or structural similarity. Source: UniProtKB

anterograde synaptic vesicle transport

Inferred from sequence or structural similarity. Source: UniProtKB

antigen processing and presentation, exogenous lipid antigen via MHC class Ib

Inferred from electronic annotation. Source: Ensembl

blood coagulation

Inferred from electronic annotation. Source: Ensembl

intracellular protein transport

Traceable author statement PubMed 9931340. Source: ProtInc

melanosome organization

Inferred from mutant phenotype PubMed 19841138. Source: UniProtKB

positive regulation of NK T cell differentiation

Inferred from electronic annotation. Source: Ensembl

protein targeting to lysosome

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentAP-3 adaptor complex

Inferred from electronic annotation. Source: InterPro

Golgi apparatus

Traceable author statement Ref.1. Source: ProtInc

clathrin-coated vesicle membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

lysosomal membrane

Inferred from direct assay PubMed 17897319. Source: UniProtKB

   Molecular_functionprotein phosphatase binding

Inferred from physical interaction PubMed 17622474. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00203-1)

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.
Isoform 2 (identifier: O00203-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10941094AP-3 complex subunit beta-1
PRO_0000193746

Regions

Compositional bias677 – 802126Glu/Ser-rich

Amino acid modifications

Modified residue2761Phosphoserine Ref.9 Ref.11 Ref.12
Modified residue6091Phosphoserine Ref.7 Ref.11
Modified residue7501Phosphoserine Ref.11
Modified residue7521Phosphoserine Ref.11

Natural variations

Alternative sequence1 – 4949Missing in isoform 2.
VSP_054708
Natural variant390 – 41021Missing in HPS2.
VAR_011595
Natural variant5801L → R in HPS2. Ref.13
VAR_011596
Natural variant5851V → E. Ref.1 Ref.2 Ref.3 Ref.5 Ref.14
Corresponds to variant rs6453373 [ dbSNP | Ensembl ].
VAR_058404

Experimental info

Sequence conflict1681K → R in CAD97982. Ref.3
Sequence conflict3791S → P in CAD97982. Ref.3
Sequence conflict8041Missing in AAD03778. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 28, 2009. Version 3.
Checksum: AC683CE18EF90555

FASTA1,094121,320
        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 IVPNVKSGAL 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 

« Hide

Isoform 2 [UniParc].

Checksum: 28C0DFA3E2603570
Show »

FASTA1,045116,195

References

« Hide 'large scale' references
[1]"Characterization of the adaptor-related protein complex, AP-3."
Simpson F., Peden A.A., Christopoulou L., Robinson M.S.
J. Cell Biol. 137:835-845(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLU-585.
Tissue: Heart.
[2]"Beta3A-adaptin, a subunit of the adaptor-like complex AP-3."
Dell'Angelica E.C., Ooi C.E., Bonifacino J.S.
J. Biol. Chem. 272:15078-15084(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PHOSPHORYLATION, TISSUE SPECIFICITY, VARIANT GLU-585.
Tissue: Pancreas.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLU-585.
Tissue: Colon.
[4]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-585.
Tissue: Uterus.
[6]"Identification of CpG islands hypermethylated in human tumors by the arbitrarily primed-PCR method."
Kisseljov F., Petrenko A., Eshilev E., Kisseljova N.
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-42.
Tissue: Cervix.
[7]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-609, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Phosphoproteome of resting human platelets."
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Platelet.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276; SER-609; SER-750 AND SER-752, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor."
Dell'Angelica E.C., Shotelersuk V., Aguilar R.C., Gahl W.A., Bonifacino J.S.
Mol. Cell 3:11-21(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HPS2 390-LEU--GLN-410 DEL AND ARG-580.
[14]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-585, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Web resources

AP3B1base

AP3B1 mutation db

Mutations of the ADTB3A gene

Retina International's Scientific Newsletter

Albinism database (ADB)

AP3B1 mutations

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS4041.1. [O00203-1]
PIRT50651.
T50652.
RefSeqNP_001258698.1. NM_001271769.1. [O00203-3]
NP_003655.3. NM_003664.4. [O00203-1]
UniGeneHs.532091.

3D structure databases

ProteinModelPortalO00203.
SMRO00203. Positions 42-603.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114116. 14 interactions.
DIPDIP-24208N.
IntActO00203. 4 interactions.
MINTMINT-1538470.
STRING9606.ENSP00000255194.

PTM databases

PhosphoSiteO00203.

Proteomic databases

MaxQBO00203.
PaxDbO00203.
PRIDEO00203.

Protocols and materials databases

DNASU8546.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000255194; ENSP00000255194; ENSG00000132842. [O00203-1]
ENST00000519295; ENSP00000430597; ENSG00000132842.
GeneID8546.
KEGGhsa:8546.
UCSCuc003kfj.4. human. [O00203-1]

Organism-specific databases

CTD8546.
GeneCardsGC05M077296.
GeneReviewsAP3B1.
HGNCHGNC:566. AP3B1.
HPAHPA038737.
HPA045458.
MIM203300. phenotype.
603401. gene.
608233. phenotype.
neXtProtNX_O00203.
Orphanet183678. Hermansky-Pudlak syndrome with neutropenia.
PharmGKBPA24857.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5096.
HOGENOMHOG000033978.
HOVERGENHBG050519.
InParanoidO00203.
KOK12397.
OMAFVPMKTH.
OrthoDBEOG74R1QG.
PhylomeDBO00203.
TreeFamTF314605.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressO00203.
BgeeO00203.
CleanExHS_AP3B1.
GenevestigatorO00203.

Family and domain databases

Gene3D1.25.10.10. 2 hits.
InterProIPR026740. AP3_beta.
IPR029394. AP3B1_Ser.
IPR029390. AP3B_C.
IPR026739. AP_beta.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR002553. Clathrin/coatomer_adapt-like_N.
[Graphical view]
PANTHERPTHR11134. PTHR11134. 1 hit.
PfamPF01602. Adaptin_N. 1 hit.
PF14796. AP3B1_C. 1 hit.
PF14797. SEEEED. 1 hit.
[Graphical view]
PIRSFPIRSF037096. AP3_complex_beta. 1 hit.
SUPFAMSSF48371. SSF48371. 2 hits.
ProtoNetSearch...

Other

ChiTaRSAP3B1. human.
GeneWikiAP3B1.
GenomeRNAi8546.
NextBio32018.
PROO00203.
SOURCESearch...

Entry information

Entry nameAP3B1_HUMAN
AccessionPrimary (citable) accession number: O00203
Secondary accession number(s): E5RJ68 expand/collapse secondary AC list , O00580, Q7Z393, Q9HD66
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: July 28, 2009
Last modified: July 9, 2014
This is version 140 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM