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Q9R0C0

- BL1S6_MOUSE

UniProt

Q9R0C0 - BL1S6_MOUSE

Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

Bloc1s6

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process.4 Publications

    GO - Molecular functioni

    1. actin filament binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. anterograde axon cargo transport Source: UniProtKB
    2. anterograde synaptic vesicle transport Source: UniProtKB
    3. blood coagulation Source: MGI
    4. endosome to melanosome transport Source: UniProtKB
    5. melanocyte differentiation Source: MGI
    6. melanosome transport Source: UniProtKB
    7. membrane fusion Source: MGI
    8. neuron projection development Source: UniProtKB
    9. pigmentation Source: MGI
    10. positive regulation of natural killer cell activation Source: MGI
    11. positive regulation of pigment cell differentiation Source: UniProtKB
    12. secretion of lysosomal enzymes Source: MGI
    13. vesicle docking involved in exocytosis Source: MGI
    14. vesicle fusion Source: MGI

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 6
    Short name:
    BLOC-1 subunit 6
    Alternative name(s):
    Pallid protein
    Pallidin
    Syntaxin 13-interacting protein
    Gene namesi
    Name:Bloc1s6
    Synonyms:P2, Pa, Pldn
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 2

    Organism-specific databases

    MGIiMGI:1927580. Bloc1s6.

    Subcellular locationi

    Cytoplasm 1 Publication. Endomembrane system 1 Publication; Peripheral membrane protein 1 Publication
    Note: It can exist as a soluble protein as well as a peripheral membrane protein.

    GO - Cellular componenti

    1. BLOC-1 complex Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. endosome Source: MGI
    4. extrinsic component of membrane Source: UniProtKB
    5. SNARE complex Source: Ensembl
    6. transport vesicle Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Pldn are the cause of the pallid (pa) phenotype that is characterized by an altered formation or function of intracellular storage granules in melanocytes, platelets, and lysosomes in kidney. Pallid mice have a prolonged bleeding time owing to the inability of immature platelet dense granules to accumulate normal amounts of ATP, ADP, and serotonin. Pa animals also suffer from pigment dilution, kidney lysosomal enzyme elevation and serum alpha1-antitrypsin activity deficiency. Finally, pallid mice exhibit defects in otolith formation that lead to balance abnormalities.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 172172Biogenesis of lysosome-related organelles complex 1 subunit 6PRO_0000058459Add
    BLAST

    Post-translational modificationi

    Phosphorylated.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9R0C0.
    PaxDbiQ9R0C0.
    PRIDEiQ9R0C0.

    PTM databases

    PhosphoSiteiQ9R0C0.

    Expressioni

    Tissue specificityi

    Expressed in liver, kidney and spleen (at protein level). Ubiquitously expressed, with the highest expression levels observed in brain, heart, liver and kidney.3 Publications

    Gene expression databases

    BgeeiQ9R0C0.
    CleanExiMM_PLDN.
    GenevestigatoriQ9R0C0.

    Interactioni

    Subunit structurei

    Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts with SNAP47 By similarity. Homodimer. 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. Interacts with BLOC1S4, BLOC1S5, DTNBP1/BLOC1S7, F-actin, SNAP25 isoform 1 and STX12.By similarity6 Publications

    Protein-protein interaction databases

    BioGridi202009. 2 interactions.
    IntActiQ9R0C0. 2 interactions.
    MINTiMINT-4107741.

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili63 – 167105Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the BLOC1S6 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG87432.
    GeneTreeiENSGT00510000047812.
    HOGENOMiHOG000231944.
    HOVERGENiHBG049426.
    InParanoidiA2ATW6.
    OMAiMLHEKTT.
    OrthoDBiEOG74TX2D.
    PhylomeDBiQ9R0C0.
    TreeFamiTF325188.

    Family and domain databases

    InterProiIPR017242. BLOC-1_pallidin.
    IPR028119. Snapin/Pallidin/Snn1.
    [Graphical view]
    PANTHERiPTHR31328. PTHR31328. 1 hit.
    PfamiPF14712. Snapin_Pallidin. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037609. BLOC-1_complex_pallidin. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9R0C0-1) [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

    MSVPEPPPPD GVLTGPSDSL EAGEPTPGLS DTSPDEGLIE DFPVDDRAVE    50
    HLVGGLLSHY LPDLQRSKRA LQELTQNQVV LLDTLEQEIS KFKECHSMLD 100
    INALFTEAKH YHAKLVTIRK EMLLLHEKTS KLKKRALKLQ QKRQREELER 150
    EQQREKEFER EKQLTAKPAK RT 172
    Length:172
    Mass (Da):19,682
    Last modified:May 1, 2000 - v1
    Checksum:i6B8068DF091B07D2
    GO
    Isoform 2 (identifier: Q9R0C0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         76-80: QNQVV → TKLCY
         81-172: Missing.

    Note: May be due to a competing acceptor splice site.

    Show »
    Length:80
    Mass (Da):8,569
    Checksum:i7CF7F688AEE5DBE5
    GO
    Isoform 3 (identifier: Q9R0C0-3)

    Sequence is not available

    Note: May be due to exon 2 skipping.

    Length:
    Mass (Da):

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141T → M in strain: C57BL/6J-pa mutants. 1 Publication
    Natural varianti32 – 321T → M in strain: BALB/c, CBA and C57BL/6J-pa mutants. 2 Publications

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei76 – 805QNQVV → TKLCY in isoform 2. 1 PublicationVSP_009295
    Alternative sequencei81 – 17292Missing in isoform 2. 1 PublicationVSP_009296Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF079530 mRNA. Translation: AAF09262.1.
    AF082574
    , AF082571, AF082572, AF082573 Genomic DNA. Translation: AAF42469.1.
    AK038381 mRNA. Translation: BAC29977.1.
    AK077720 mRNA. Translation: BAC36979.1.
    AK147116 mRNA. Translation: BAE27688.1.
    AK160580 mRNA. Translation: BAE35887.1.
    AL928950 Genomic DNA. Translation: CAM26697.1.
    BC016554 mRNA. Translation: AAH16554.1.
    CCDSiCCDS16668.1. [Q9R0C0-1]
    RefSeqiNP_062762.1. NM_019788.3. [Q9R0C0-1]
    UniGeneiMm.268921.

    Genome annotation databases

    EnsembliENSMUST00000005954; ENSMUSP00000005954; ENSMUSG00000005804. [Q9R0C0-1]
    GeneIDi18457.
    KEGGimmu:18457.
    UCSCiuc008mbf.1. mouse. [Q9R0C0-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF079530 mRNA. Translation: AAF09262.1 .
    AF082574
    , AF082571 , AF082572 , AF082573 Genomic DNA. Translation: AAF42469.1 .
    AK038381 mRNA. Translation: BAC29977.1 .
    AK077720 mRNA. Translation: BAC36979.1 .
    AK147116 mRNA. Translation: BAE27688.1 .
    AK160580 mRNA. Translation: BAE35887.1 .
    AL928950 Genomic DNA. Translation: CAM26697.1 .
    BC016554 mRNA. Translation: AAH16554.1 .
    CCDSi CCDS16668.1. [Q9R0C0-1 ]
    RefSeqi NP_062762.1. NM_019788.3. [Q9R0C0-1 ]
    UniGenei Mm.268921.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 202009. 2 interactions.
    IntActi Q9R0C0. 2 interactions.
    MINTi MINT-4107741.

    PTM databases

    PhosphoSitei Q9R0C0.

    Proteomic databases

    MaxQBi Q9R0C0.
    PaxDbi Q9R0C0.
    PRIDEi Q9R0C0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000005954 ; ENSMUSP00000005954 ; ENSMUSG00000005804 . [Q9R0C0-1 ]
    GeneIDi 18457.
    KEGGi mmu:18457.
    UCSCi uc008mbf.1. mouse. [Q9R0C0-1 ]

    Organism-specific databases

    CTDi 26258.
    MGIi MGI:1927580. Bloc1s6.

    Phylogenomic databases

    eggNOGi NOG87432.
    GeneTreei ENSGT00510000047812.
    HOGENOMi HOG000231944.
    HOVERGENi HBG049426.
    InParanoidi A2ATW6.
    OMAi MLHEKTT.
    OrthoDBi EOG74TX2D.
    PhylomeDBi Q9R0C0.
    TreeFami TF325188.

    Miscellaneous databases

    NextBioi 294148.
    PROi Q9R0C0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9R0C0.
    CleanExi MM_PLDN.
    Genevestigatori Q9R0C0.

    Family and domain databases

    InterProi IPR017242. BLOC-1_pallidin.
    IPR028119. Snapin/Pallidin/Snn1.
    [Graphical view ]
    PANTHERi PTHR31328. PTHR31328. 1 hit.
    Pfami PF14712. Snapin_Pallidin. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037609. BLOC-1_complex_pallidin. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency."
      Huang L., Kuo Y.-M., Gitschier J.
      Nat. Genet. 23:329-332(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INTERACTION WITH STX12, ALTERNATIVE SPLICING, DISEASE, VARIANTS MET-14 AND MET-32.
      Strain: C57BL/6J.
      Tissue: Brain.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Strain: C57BL/6J.
      Tissue: Heart and Hypothalamus.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    4. "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 2), VARIANT MET-32.
      Tissue: Mammary tumor.
    5. "The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis."
      Falcon-Perez J.M., Dell'Angelica E.C.
      Pigment Cell Res. 15:82-86(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW, ALTERNATIVE SPLICING.
    6. "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules."
      Falcon-Perez J.M., Starcevic M., Gautam R., Dell'Angelica E.C.
      J. Biol. Chem. 277:28191-28199(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH F-ACTIN, HOMODIMERIZATION.
    7. "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles."
      Moriyama K., Bonifacino J.S.
      Traffic 3:666-677(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    8. "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)."
      Ciciotte S.L., Gwynn B., Moriyama K., Huizing M., Gahl W.A., Bonifacino J.S., Peters L.L.
      Blood 101:4402-4407(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S4 AND BLOC1S5.
    9. "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)."
      Li W., Zhang Q., Oiso N., Novak E.K., Gautam R., O'Brien E.P., Tinsley C.L., Blake D.J., Spritz R.A., Copeland N.G., Jenkins N.A., Amato D., Roe B.A., Starcevic M., Dell'Angelica E.C., Elliott R.W., Mishra V., Kingsmore S.F., Paylor R.E., Swank R.T.
      Nat. Genet. 35:84-89(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DTNBP1.
    10. Cited for: FUNCTION.
    11. "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: IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION.
    12. "The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth."
      Ghiani C.A., Starcevic M., Rodriguez-Fernandez I.A., Nazarian R., Cheli V.T., Chan L.N., Malvar J.S., de Vellis J., Sabatti C., Dell'Angelica E.C.
      Mol. Psychiatry 15:204-215(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION, INTERACTION WITH SNAP25.
    13. "The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse."
      Larimore J., Tornieri K., Ryder P.V., Gokhale A., Zlatic S.A., Craige B., Lee J.D., Talbot K., Pare J.F., Smith Y., Faundez V.
      Mol. Biol. Cell 22:4854-4867(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiBL1S6_MOUSE
    AccessioniPrimary (citable) accession number: Q9R0C0
    Secondary accession number(s): A2ATW6, Q3TUT4, Q91VG4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 105 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3