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Q9UL45

- BL1S6_HUMAN

UniProt

Q9UL45 - BL1S6_HUMAN

Protein

Biogenesis of lysosome-related organelles complex 1 subunit 6

Gene

BLOC1S6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (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.2 Publications

    GO - Molecular functioni

    1. actin filament binding Source: UniProtKB
    2. identical protein binding Source: IntAct
    3. protein binding Source: UniProtKB
    4. protein homodimerization activity Source: UniProtKB
    5. syntaxin binding Source: UniProtKB

    GO - Biological processi

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

    Enzyme and pathway databases

    ReactomeiREACT_19400. Golgi Associated Vesicle Biogenesis.

    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 homolog
    Pallidin
    Syntaxin 13-interacting protein
    Gene namesi
    Name:BLOC1S6
    Synonyms:PA, PLDN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:8549. BLOC1S6.

    Subcellular locationi

    Cytoplasm. Endomembrane system; Peripheral membrane protein
    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. cytosol Source: Reactome
    4. endosome Source: Ensembl
    5. extrinsic component of membrane Source: UniProtKB
    6. transport vesicle Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hermansky-Pudlak syndrome 9 (HPS9) [MIM:614171]: 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

    MIMi614171. phenotype.
    Orphaneti280663. Hermansky-Pudlak syndrome type 9.
    PharmGKBiPA33398.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 172172Biogenesis of lysosome-related organelles complex 1 subunit 6PRO_0000058458Add
    BLAST

    Post-translational modificationi

    Phosphorylated.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UL45.
    PaxDbiQ9UL45.
    PRIDEiQ9UL45.

    PTM databases

    PhosphoSiteiQ9UL45.

    Expressioni

    Tissue specificityi

    Widely expressed.2 Publications

    Gene expression databases

    ArrayExpressiQ9UL45.
    BgeeiQ9UL45.
    CleanExiHS_PLDN.
    GenevestigatoriQ9UL45.

    Organism-specific databases

    HPAiHPA039928.

    Interactioni

    Subunit structurei

    Interacts with BLOC1S4 and DTNBP1/BLOC1S7 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. 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 with BLOC1S5, F-actin, SNAP25 isoform 1 and isoform 2, SNAP47 and STX12.By similarity6 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-465781,EBI-465781
    BLOC1S1P7853710EBI-465781,EBI-348630
    BLOC1S2Q6QNY13EBI-465781,EBI-465872
    BLOC1S3Q6QNY03EBI-465781,EBI-465930
    BLOC1S4Q9NUP15EBI-465781,EBI-465852
    BLOC1S5Q8TDH92EBI-465781,EBI-465861
    DTNBP1Q96EV86EBI-465781,EBI-465804
    SNAPINO952952EBI-465781,EBI-296723

    Protein-protein interaction databases

    BioGridi117644. 24 interactions.
    IntActiQ9UL45. 21 interactions.
    MINTiMINT-1434296.
    STRINGi9606.ENSP00000220531.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UL45.
    ModBaseiSearch...
    MobiDBiSearch...

    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.
    HOGENOMiHOG000231944.
    HOVERGENiHBG049426.
    InParanoidiQ9UL45.
    OMAiEANRENT.
    OrthoDBiEOG74TX2D.
    PhylomeDBiQ9UL45.
    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: Q9UL45-1) [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

    MSVPGPSSPD GALTRPPYCL EAGEPTPGLS DTSPDEGLIE DLTIEDKAVE    50
    QLAEGLLSHY LPDLQRSKQA LQELTQNQVV LLDTLEQEIS KFKECHSMLD 100
    INALFAEAKH YHAKLVNIRK EMLMLHEKTS KLKKRALKLQ QKRQKEELER 150
    EQQREKEFER EKQLTARPAK RM 172
    Length:172
    Mass (Da):19,744
    Last modified:May 1, 2000 - v1
    Checksum:i37902FCFD4802294
    GO
    Isoform 2 (identifier: Q9UL45-2) [UniParc]FASTAAdd to Basket

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

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

    Show »
    Length:80
    Mass (Da):8,599
    Checksum:i9AF4DA442EC4C311
    GO
    Isoform 3 (identifier: Q9UL45-3)

    Sequence is not available

    Note: May be due to exons 2 and 3 skipping. No experimental confirmation available.

    Length:
    Mass (Da):

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei76 – 805QNQVV → TKLYC in isoform 2. 1 PublicationVSP_009293
    Alternative sequencei81 – 17292Missing in isoform 2. 1 PublicationVSP_009294Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF080470 mRNA. Translation: AAF08343.1.
    AK057545 mRNA. No translation available.
    BC004819 mRNA. Translation: AAH04819.1.
    CCDSiCCDS10126.1. [Q9UL45-1]
    RefSeqiNP_036520.1. NM_012388.2. [Q9UL45-1]
    UniGeneiHs.7037.

    Genome annotation databases

    EnsembliENST00000220531; ENSP00000220531; ENSG00000104164. [Q9UL45-1]
    ENST00000567523; ENSP00000456624; ENSG00000104164. [Q9UL45-2]
    GeneIDi26258.
    KEGGihsa:26258.
    UCSCiuc001zvq.3. human. [Q9UL45-1]

    Polymorphism databases

    DMDMi41017511.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF080470 mRNA. Translation: AAF08343.1 .
    AK057545 mRNA. No translation available.
    BC004819 mRNA. Translation: AAH04819.1 .
    CCDSi CCDS10126.1. [Q9UL45-1 ]
    RefSeqi NP_036520.1. NM_012388.2. [Q9UL45-1 ]
    UniGenei Hs.7037.

    3D structure databases

    ProteinModelPortali Q9UL45.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117644. 24 interactions.
    IntActi Q9UL45. 21 interactions.
    MINTi MINT-1434296.
    STRINGi 9606.ENSP00000220531.

    PTM databases

    PhosphoSitei Q9UL45.

    Polymorphism databases

    DMDMi 41017511.

    Proteomic databases

    MaxQBi Q9UL45.
    PaxDbi Q9UL45.
    PRIDEi Q9UL45.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000220531 ; ENSP00000220531 ; ENSG00000104164 . [Q9UL45-1 ]
    ENST00000567523 ; ENSP00000456624 ; ENSG00000104164 . [Q9UL45-2 ]
    GeneIDi 26258.
    KEGGi hsa:26258.
    UCSCi uc001zvq.3. human. [Q9UL45-1 ]

    Organism-specific databases

    CTDi 26258.
    GeneCardsi GC15P045881.
    GeneReviewsi BLOC1S6.
    HGNCi HGNC:8549. BLOC1S6.
    HPAi HPA039928.
    MIMi 604310. gene.
    614171. phenotype.
    neXtProti NX_Q9UL45.
    Orphaneti 280663. Hermansky-Pudlak syndrome type 9.
    PharmGKBi PA33398.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG87432.
    HOGENOMi HOG000231944.
    HOVERGENi HBG049426.
    InParanoidi Q9UL45.
    OMAi EANRENT.
    OrthoDBi EOG74TX2D.
    PhylomeDBi Q9UL45.
    TreeFami TF325188.

    Enzyme and pathway databases

    Reactomei REACT_19400. Golgi Associated Vesicle Biogenesis.

    Miscellaneous databases

    ChiTaRSi PLDN. human.
    GeneWikii PLDN.
    GenomeRNAii 26258.
    NextBioi 48499.
    PROi Q9UL45.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UL45.
    Bgeei Q9UL45.
    CleanExi HS_PLDN.
    Genevestigatori Q9UL45.

    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 [MRNA] (ISOFORM 1).
      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] (ISOFORM 2).
      Tissue: Thymus.
    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] (ISOFORM 1).
      Tissue: Placenta.
    4. "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.
    5. "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, SUBCELLULAR LOCATION, PHOSPHORYLATION, INTERACTION WITH STX12 AND BLOC1S5, HOMODIMERIZATION.
    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 BLOC1S5 AND F-ACTIN, HOMODIMERIZATION.
    7. "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.
    8. "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, INTERACTION WITH SNAP25; SNAP47 AND STX12.
    9. Cited for: INVOLVEMENT IN HPS9.
    10. "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, ASSOCIATION WITH THE AP-3 COMPLEX, INTERACTION WITH BLOC1S5.
    11. "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 nameiBL1S6_HUMAN
    AccessioniPrimary (citable) accession number: Q9UL45
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 116 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 15
      Human chromosome 15: 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