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O00203

- AP3B1_HUMAN

UniProt

O00203 - AP3B1_HUMAN

Protein

AP-3 complex subunit beta-1

Gene

AP3B1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 3 (28 Jul 2009)
      Previous versions | rss
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    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.

    GO - Molecular functioni

    1. GTP-dependent protein binding Source: BHF-UCL
    2. protein phosphatase binding Source: UniProtKB

    GO - Biological processi

    1. anterograde axon cargo transport Source: UniProtKB
    2. anterograde synaptic vesicle transport Source: UniProtKB
    3. antigen processing and presentation, exogenous lipid antigen via MHC class Ib Source: Ensembl
    4. blood coagulation Source: Ensembl
    5. intracellular protein transport Source: ProtInc
    6. melanosome organization Source: UniProtKB
    7. positive regulation of NK T cell differentiation Source: Ensembl
    8. protein targeting to lysosome Source: Ensembl

    Keywords - Biological processi

    Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_19400. Golgi Associated Vesicle Biogenesis.

    Names & Taxonomyi

    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
    Gene namesi
    Name:AP3B1
    Synonyms:ADTB3A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:566. AP3B1.

    Subcellular locationi

    Cytoplasmic vesicleclathrin-coated vesicle membrane By similarity; Peripheral membrane protein By similarity; 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

    GO - Cellular componenti

    1. AP-3 adaptor complex Source: InterPro
    2. clathrin-coated vesicle membrane Source: UniProtKB-SubCell
    3. Golgi apparatus Source: ProtInc
    4. lysosomal membrane Source: UniProtKB
    5. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti390 – 41021Missing in HPS2.
    VAR_011595Add
    BLAST
    Natural varianti580 – 5801L → R in HPS2. 1 Publication
    VAR_011596

    Keywords - Diseasei

    Albinism, Disease mutation, Hermansky-Pudlak syndrome

    Organism-specific databases

    MIMi203300. phenotype.
    608233. phenotype.
    Orphaneti183678. Hermansky-Pudlak syndrome with neutropenia.
    PharmGKBiPA24857.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10941094AP-3 complex subunit beta-1PRO_0000193746Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei276 – 2761Phosphoserine4 Publications
    Modified residuei609 – 6091Phosphoserine3 Publications
    Modified residuei750 – 7501Phosphoserine2 Publications
    Modified residuei752 – 7521Phosphoserine2 Publications

    Post-translational modificationi

    Phosphorylated on serine residues.5 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO00203.
    PaxDbiO00203.
    PRIDEiO00203.

    PTM databases

    PhosphoSiteiO00203.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.2 Publications

    Gene expression databases

    ArrayExpressiO00203.
    BgeeiO00203.
    CleanExiHS_AP3B1.
    GenevestigatoriO00203.

    Organism-specific databases

    HPAiHPA038737.
    HPA045458.

    Interactioni

    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

    Protein-protein interaction databases

    BioGridi114116. 14 interactions.
    DIPiDIP-24208N.
    IntActiO00203. 5 interactions.
    MINTiMINT-1538470.
    STRINGi9606.ENSP00000255194.

    Structurei

    3D structure databases

    ProteinModelPortaliO00203.
    SMRiO00203. Positions 42-603.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi677 – 802126Glu/Ser-richAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG5096.
    HOGENOMiHOG000033978.
    HOVERGENiHBG050519.
    InParanoidiO00203.
    KOiK12397.
    OMAiFVPMKTH.
    OrthoDBiEOG74R1QG.
    PhylomeDBiO00203.
    TreeFamiTF314605.

    Family and domain databases

    Gene3Di1.25.10.10. 2 hits.
    InterProiIPR026740. 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]
    PANTHERiPTHR11134. PTHR11134. 1 hit.
    PfamiPF01602. Adaptin_N. 1 hit.
    PF14796. AP3B1_C. 1 hit.
    PF14797. SEEEED. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037096. AP3_complex_beta. 1 hit.
    SUPFAMiSSF48371. SSF48371. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MSSNSFPYNE QSGGGEATEL GQEATSTISP SGAFGLFSSD LKKNEDLKQM     50
    LESNKDSAKL DAMKRIVGMI AKGKNASELF PAVVKNVASK NIEIKKLVYV 100
    YLVRYAEEQQ DLALLSISTF QRALKDPNQL IRASALRVLS SIRVPIIVPI 150
    MMLAIKEASA DLSPYVRKNA AHAIQKLYSL DPEQKEMLIE VIEKLLKDKS 200
    TLVAGSVVMA FEEVCPDRID LIHKNYRKLC NLLVDVEEWG QVVIIHMLTR 250
    YARTQFVSPW KEGDELEDNG KNFYESDDDQ KEKTDKKKKP YTMDPDHRLL 300
    IRNTKPLLQS RNAAVVMAVA QLYWHISPKS EAGIISKSLV RLLRSNREVQ 350
    YIVLQNIATM SIQRKGMFEP YLKSFYVRST DPTMIKTLKL EILTNLANEA 400
    NISTLLREFQ TYVKSQDKQF AAATIQTIGR CATNILEVTD TCLNGLVCLL 450
    SNRDEIVVAE SVVVIKKLLQ MQPAQHGEII KHMAKLLDSI TVPVARASIL 500
    WLIGENCERV PKIAPDVLRK MAKSFTSEDD LVKLQILNLG AKLYLTNSKQ 550
    TKLLTQYILN LGKYDQNYDI RDRTRFIRQL IVPNVKSGAL SKYAKKIFLA 600
    QKPAPLLESP FKDRDHFQLG TLSHTLNIKA TGYLELSNWP EVAPDPSVRN 650
    VEVIELAKEW TPAGKAKQEN SAKKFYSESE EEEDSSDSSS DSESESGSES 700
    GEQGESGEEG DSNEDSSEDS SSEQDSESGR ESGLENKRTA KRNSKAKGKS 750
    DSEDGEKENE KSKTSDSSND ESSSIEDSSS DSESESEPES ESESRRVTKE 800
    KEKKTKQDRT PLTKDVSLLD LDDFNPVSTP VALPTPALSP SLMADLEGLH 850
    LSTSSSVISV STPAFVPTKT HVLLHRMSGK GLAAHYFFPR QPCIFGDKMV 900
    SIQITLNNTT DRKIENIHIG EKKLPIGMKM HVFNPIDSLE PEGSITVSMG 950
    IDFCDSTQTA SFQLCTKDDC FNVNIQPPVG ELLLPVAMSE KDFKKEQGVL 1000
    TGMNETSAVI IAAPQNFTPS VIFQKVVNVA NVGAVPSGQD NIHRFAAKTV 1050
    HSGSLMLVTV ELKEGSTAQL IINTEKTVIG SVLLRELKPV LSQG 1094
    Length:1,094
    Mass (Da):121,320
    Last modified:July 28, 2009 - v3
    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

    Sequence cautioni

    The sequence CAD97982.1 differs from that shown. Reason: Wrong choice of CDS.
    The sequence CAD97982.1 differs from that shown. Reason: Frameshift at position 1011.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti168 – 1681K → R in CAD97982. (PubMed:17974005)Curated
    Sequence conflicti379 – 3791S → P in CAD97982. (PubMed:17974005)Curated
    Sequence conflicti804 – 8041Missing in AAD03778. (PubMed:9151686)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti390 – 41021Missing in HPS2.
    VAR_011595Add
    BLAST
    Natural varianti580 – 5801L → R in HPS2. 1 Publication
    VAR_011596
    Natural varianti585 – 5851V → E.5 Publications
    Corresponds to variant rs6453373 [ dbSNP | Ensembl ].
    VAR_058404

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4949Missing in isoform 2. 1 PublicationVSP_054708Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.

    Genome annotation databases

    EnsembliENST00000255194; ENSP00000255194; ENSG00000132842. [O00203-1]
    ENST00000519295; ENSP00000430597; ENSG00000132842. [O00203-3]
    GeneIDi8546.
    KEGGihsa:8546.
    UCSCiuc003kfj.4. human. [O00203-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS4041.1. [O00203-1 ]
    CCDS64186.1. [O00203-3 ]
    PIRi T50651.
    T50652.
    RefSeqi NP_001258698.1. NM_001271769.1. [O00203-3 ]
    NP_003655.3. NM_003664.4. [O00203-1 ]
    UniGenei Hs.532091.

    3D structure databases

    ProteinModelPortali O00203.
    SMRi O00203. Positions 42-603.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114116. 14 interactions.
    DIPi DIP-24208N.
    IntActi O00203. 5 interactions.
    MINTi MINT-1538470.
    STRINGi 9606.ENSP00000255194.

    PTM databases

    PhosphoSitei O00203.

    Proteomic databases

    MaxQBi O00203.
    PaxDbi O00203.
    PRIDEi O00203.

    Protocols and materials databases

    DNASUi 8546.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000255194 ; ENSP00000255194 ; ENSG00000132842 . [O00203-1 ]
    ENST00000519295 ; ENSP00000430597 ; ENSG00000132842 . [O00203-3 ]
    GeneIDi 8546.
    KEGGi hsa:8546.
    UCSCi uc003kfj.4. human. [O00203-1 ]

    Organism-specific databases

    CTDi 8546.
    GeneCardsi GC05M077296.
    GeneReviewsi AP3B1.
    HGNCi HGNC:566. AP3B1.
    HPAi HPA038737.
    HPA045458.
    MIMi 203300. phenotype.
    603401. gene.
    608233. phenotype.
    neXtProti NX_O00203.
    Orphaneti 183678. Hermansky-Pudlak syndrome with neutropenia.
    PharmGKBi PA24857.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5096.
    HOGENOMi HOG000033978.
    HOVERGENi HBG050519.
    InParanoidi O00203.
    KOi K12397.
    OMAi FVPMKTH.
    OrthoDBi EOG74R1QG.
    PhylomeDBi O00203.
    TreeFami TF314605.

    Enzyme and pathway databases

    Reactomei REACT_19400. Golgi Associated Vesicle Biogenesis.

    Miscellaneous databases

    ChiTaRSi AP3B1. human.
    GeneWikii AP3B1.
    GenomeRNAii 8546.
    NextBioi 32018.
    PROi O00203.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00203.
    Bgeei O00203.
    CleanExi HS_AP3B1.
    Genevestigatori O00203.

    Family and domain databases

    Gene3Di 1.25.10.10. 2 hits.
    InterProi IPR026740. 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 ]
    PANTHERi PTHR11134. PTHR11134. 1 hit.
    Pfami PF01602. Adaptin_N. 1 hit.
    PF14796. AP3B1_C. 1 hit.
    PF14797. SEEEED. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037096. AP3_complex_beta. 1 hit.
    SUPFAMi SSF48371. SSF48371. 2 hits.
    ProtoNeti Search...

    Publicationsi

    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. 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.
      , 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    9. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-585, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiAP3B1_HUMAN
    AccessioniPrimary (citable) accession number: O00203
    Secondary accession number(s): E5RJ68
    , O00580, Q7Z393, Q9HD66
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 26, 2001
    Last sequence update: July 28, 2009
    Last modified: October 1, 2014
    This is version 142 of the entry and version 3 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3