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Q6QNY0

- BL1S3_HUMAN

UniProt

Q6QNY0 - BL1S3_HUMAN

Protein

Biogenesis of lysosome-related organelles complex 1 subunit 3

Gene

BLOC1S3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.2 Publications

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. anterograde axon cargo transport Source: UniProtKB
    2. anterograde synaptic vesicle transport Source: UniProtKB
    3. endosome to melanosome transport Source: UniProtKB
    4. eye development Source: UniProtKB
    5. melanosome organization Source: UniProtKB
    6. melanosome transport Source: UniProtKB
    7. membrane organization Source: Reactome
    8. neuron projection development Source: UniProtKB
    9. pigmentation Source: UniProtKB
    10. platelet activation Source: UniProtKB
    11. platelet dense granule organization Source: UniProtKB
    12. positive regulation of natural killer cell activation Source: Ensembl
    13. post-Golgi vesicle-mediated transport Source: Reactome
    14. response to drug Source: Ensembl
    15. secretion of lysosomal enzymes Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_19400. Golgi Associated Vesicle Biogenesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 3
    Short name:
    BLOC-1 subunit 3
    Gene namesi
    Name:BLOC1S3
    Synonyms:BLOS3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:20914. BLOC1S3.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. BLOC-1 complex Source: UniProtKB
    2. cytosol Source: Reactome
    3. transport vesicle Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Albinism, Hermansky-Pudlak syndrome

    Organism-specific databases

    MIMi614077. phenotype.
    Orphaneti231537. Hermansky-Pudlak syndrome type 8.
    PharmGKBiPA134884924.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 202202Biogenesis of lysosome-related organelles complex 1 subunit 3PRO_0000234548Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei63 – 631Phosphothreonine3 Publications
    Modified residuei65 – 651Phosphoserine3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6QNY0.
    PaxDbiQ6QNY0.
    PRIDEiQ6QNY0.

    PTM databases

    PhosphoSiteiQ6QNY0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6QNY0.
    BgeeiQ6QNY0.
    CleanExiHS_BLOC1S3.
    GenevestigatoriQ6QNY0.

    Interactioni

    Subunit structurei

    Interacts with BLOC1S4, BLOC1S5 and BLOC1S6 By similarity. Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts directly with BLOC1S2.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BLOC1S2Q6QNY13EBI-465930,EBI-465872
    BLOC1S6Q9UL453EBI-465930,EBI-465781
    DTNBP1Q96EV83EBI-465930,EBI-465804

    Protein-protein interaction databases

    BioGridi132736. 6 interactions.
    IntActiQ6QNY0. 6 interactions.
    STRINGi9606.ENSP00000343089.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6QNY0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the BLOC1S3 family.Curated

    Phylogenomic databases

    eggNOGiNOG45212.
    HOGENOMiHOG000060304.
    InParanoidiQ6QNY0.
    OMAiQILPDIN.
    OrthoDBiEOG7SFHZV.
    PhylomeDBiQ6QNY0.
    TreeFamiTF336303.

    Family and domain databases

    InterProiIPR017245. BLOC-1_complex_su-3.
    [Graphical view]
    PIRSFiPIRSF037630. BLOC-1_complex_subunit_3. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q6QNY0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MASQGRRRRP LRRPETVVPG EATETDSERS ASSSEEEELY LGPSGPTRGR    50
    PTGLRVAGEA AETDSEPEPE PEPTAAPRDL PPLVVQRESA EEAWGTEEAP 100
    APAPARSLLQ LRLAESQARL DHDVAAAVSG VYRRAGRDVA ALASRLAAAQ 150
    AAGLAAAHSV RLARGDLCAL AERLDIVAGC RLLPDIRGVP GTEPEKDPGP 200
    RA 202
    Length:202
    Mass (Da):21,256
    Last modified:July 5, 2004 - v1
    Checksum:iEB072B856AB6B4CF
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY531266 mRNA. Translation: AAT00462.1.
    AK296695 mRNA. Translation: BAG59289.1.
    BC151151 mRNA. Translation: AAI51152.1.
    BC151152 mRNA. Translation: AAI51153.1.
    CCDSiCCDS12656.1.
    RefSeqiNP_997715.1. NM_212550.3.
    UniGeneiHs.103902.

    Genome annotation databases

    EnsembliENST00000433642; ENSP00000393840; ENSG00000189114.
    ENST00000587722; ENSP00000468281; ENSG00000189114.
    GeneIDi388552.
    KEGGihsa:388552.
    UCSCiuc002pax.4. human.

    Polymorphism databases

    DMDMi74749299.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY531266 mRNA. Translation: AAT00462.1 .
    AK296695 mRNA. Translation: BAG59289.1 .
    BC151151 mRNA. Translation: AAI51152.1 .
    BC151152 mRNA. Translation: AAI51153.1 .
    CCDSi CCDS12656.1.
    RefSeqi NP_997715.1. NM_212550.3.
    UniGenei Hs.103902.

    3D structure databases

    ProteinModelPortali Q6QNY0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 132736. 6 interactions.
    IntActi Q6QNY0. 6 interactions.
    STRINGi 9606.ENSP00000343089.

    PTM databases

    PhosphoSitei Q6QNY0.

    Polymorphism databases

    DMDMi 74749299.

    Proteomic databases

    MaxQBi Q6QNY0.
    PaxDbi Q6QNY0.
    PRIDEi Q6QNY0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000433642 ; ENSP00000393840 ; ENSG00000189114 .
    ENST00000587722 ; ENSP00000468281 ; ENSG00000189114 .
    GeneIDi 388552.
    KEGGi hsa:388552.
    UCSCi uc002pax.4. human.

    Organism-specific databases

    CTDi 388552.
    GeneCardsi GC19P045682.
    GeneReviewsi BLOC1S3.
    HGNCi HGNC:20914. BLOC1S3.
    MIMi 609762. gene.
    614077. phenotype.
    neXtProti NX_Q6QNY0.
    Orphaneti 231537. Hermansky-Pudlak syndrome type 8.
    PharmGKBi PA134884924.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45212.
    HOGENOMi HOG000060304.
    InParanoidi Q6QNY0.
    OMAi QILPDIN.
    OrthoDBi EOG7SFHZV.
    PhylomeDBi Q6QNY0.
    TreeFami TF336303.

    Enzyme and pathway databases

    Reactomei REACT_19400. Golgi Associated Vesicle Biogenesis.

    Miscellaneous databases

    GenomeRNAii 388552.
    NextBioi 102134.
    PROi Q6QNY0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6QNY0.
    Bgeei Q6QNY0.
    CleanExi HS_BLOC1S3.
    Genevestigatori Q6QNY0.

    Family and domain databases

    InterProi IPR017245. BLOC-1_complex_su-3.
    [Graphical view ]
    PIRSFi PIRSF037630. BLOC-1_complex_subunit_3. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)."
      Starcevic M., Dell'Angelica E.C.
      J. Biol. Chem. 279:28393-28401(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], IDENTIFICATION IN THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S2.
      Tissue: Brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Tongue.
    3. "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].
      Tissue: Brain and Testis.
    4. "A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)."
      Morgan N.V., Pasha S., Johnson C.A., Ainsworth J.R., Eady R.A.J., Dawood B., McKeown C., Trembath R.C., Wilde J., Watson S.P., Maher E.R.
      Am. J. Hum. Genet. 78:160-166(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INVOLVEMENT IN HPS8.
    5. "BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles."
      Setty S.R., Tenza D., Truschel S.T., Chou E., Sviderskaya E.V., Theos A.C., Lamoreux M.L., Di Pietro S.M., Starcevic M., Bennett D.C., Dell'Angelica E.C., Raposo G., Marks M.S.
      Mol. Biol. Cell 18:768-780(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-63 AND SER-65, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "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].
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-63 AND SER-65, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "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 THR-63 AND SER-65, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1)."
      Lee H.H., Nemecek D., Schindler C., Smith W.J., Ghirlando R., Steven A.C., Bonifacino J.S., Hurley J.H.
      J. Biol. Chem. 287:5882-5890(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, COMPOSITION OF THE BLOC-1 COMPLEX.

    Entry informationi

    Entry nameiBL1S3_HUMAN
    AccessioniPrimary (citable) accession number: Q6QNY0
    Secondary accession number(s): B2RXB8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 95 of the entry and version 1 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 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3