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Q6QNY1

- BL1S2_HUMAN

UniProt

Q6QNY1 - BL1S2_HUMAN

Protein

Biogenesis of lysosome-related organelles complex 1 subunit 2

Gene

BLOC1S2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (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. May play a role in cell proliferation.3 Publications

    GO - Molecular functioni

    1. gamma-tubulin binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. protein C-terminus binding Source: UniProtKB

    GO - Biological processi

    1. anterograde axon cargo transport Source: UniProtKB
    2. anterograde synaptic vesicle transport Source: UniProtKB
    3. extrinsic apoptotic signaling pathway via death domain receptors Source: UniProtKB
    4. melanosome organization Source: UniProtKB
    5. microtubule nucleation Source: UniProtKB
    6. mitochondrial outer membrane permeabilization Source: UniProtKB
    7. neuron projection development Source: UniProtKB
    8. platelet dense granule organization Source: UniProtKB
    9. positive regulation of cell proliferation Source: UniProtKB
    10. positive regulation of transcription, DNA-templated Source: UniProtKB
    11. positive regulation of transcription from RNA polymerase II promoter Source: RefGenome

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 2
    Short name:
    BLOC-1 subunit 2
    Alternative name(s):
    Centrosome-associated protein
    Gene namesi
    Name:BLOC1S2
    Synonyms:BLOS2, CEAP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:20984. BLOC1S2.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication
    Note: Localizes to the centrosomes in a microtubule-dependent manner.

    GO - Cellular componenti

    1. BLOC-1 complex Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. gamma-tubulin complex Source: UniProtKB
    4. mitochondrion Source: UniProtKB
    5. nucleus Source: UniProtKB
    6. recycling endosome Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134936108.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 142141Biogenesis of lysosome-related organelles complex 1 subunit 2PRO_0000234543Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ6QNY1.
    PaxDbiQ6QNY1.
    PeptideAtlasiQ6QNY1.
    PRIDEiQ6QNY1.

    PTM databases

    PhosphoSiteiQ6QNY1.

    Expressioni

    Tissue specificityi

    Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ6QNY1.
    BgeeiQ6QNY1.
    CleanExiHS_BLOC1S2.
    GenevestigatoriQ6QNY1.

    Organism-specific databases

    HPAiHPA048088.

    Interactioni

    Subunit structurei

    Interacts with IFT57 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 BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN. Interacts with gamma-tubulin.By similarity3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BLOC1S1P785373EBI-465872,EBI-348630
    BLOC1S3Q6QNY03EBI-465872,EBI-465930
    BLOC1S5Q8TDH92EBI-465872,EBI-465861
    BLOC1S6Q9UL453EBI-465872,EBI-465781
    DTNBP1Q96EV86EBI-465872,EBI-465804
    IFT57Q9NWB73EBI-465872,EBI-725672
    SNAPINO952957EBI-465872,EBI-296723

    Protein-protein interaction databases

    BioGridi129431. 18 interactions.
    IntActiQ6QNY1. 15 interactions.
    MINTiMINT-2812463.
    STRINGi9606.ENSP00000351716.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6QNY1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili79 – 12749Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the BLOC1S2 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG251755.
    HOGENOMiHOG000111279.
    HOVERGENiHBG079627.
    InParanoidiQ6QNY1.
    KOiK16750.
    OMAiNELCKDM.
    OrthoDBiEOG789CD7.
    PhylomeDBiQ6QNY1.
    TreeFamiTF313861.

    Family and domain databases

    InterProiIPR019269. BLOC1_su2.
    [Graphical view]
    PfamiPF10046. BLOC1_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6QNY1-1) [UniParc]FASTAAdd to Basket

    Also known as: Ceap-16

    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

    MAAAAEGVLA TRSDEPARDD AAVETAEEAK EPAEADITEL CRDMFSKMAT    50
    YLTGELTATS EDYKLLENMN KLTSLKYLEM KDIAINISRN LKDLNQKYAG 100
    LQPYLDQINV IEEQVAALEQ AAYKLDAYSK KLEAKYKKLE KR 142
    Length:142
    Mass (Da):15,961
    Last modified:July 5, 2004 - v1
    Checksum:i023DDBAC66E1912B
    GO
    Isoform 2 (identifier: Q6QNY1-2) [UniParc]FASTAAdd to Basket

    Also known as: Ceap-11

    The sequence of this isoform differs from the canonical sequence as follows:
         1-43: Missing.

    Show »
    Length:99
    Mass (Da):11,489
    Checksum:i9F88B6AF46B7FCDA
    GO

    Sequence cautioni

    The sequence AAH20494.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAH72396.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAH72821.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131S → R.
    Corresponds to variant rs33965491 [ dbSNP | Ensembl ].
    VAR_054068

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4343Missing in isoform 2. 1 PublicationVSP_018350Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY531265 mRNA. Translation: AAT00461.1.
    AY278457 mRNA. Translation: AAQ19606.1.
    AK298969 mRNA. Translation: BAG61064.1.
    AL138921, AL139819 Genomic DNA. Translation: CAH72396.1. Sequence problems.
    AL139819, AL138921 Genomic DNA. Translation: CAH72821.1. Sequence problems.
    CH471066 Genomic DNA. Translation: EAW49836.1.
    BC020494 mRNA. Translation: AAH20494.1. Different initiation.
    CCDSiCCDS7490.1. [Q6QNY1-1]
    RefSeqiNP_001001342.1. NM_001001342.2. [Q6QNY1-2]
    NP_001269366.1. NM_001282437.1. [Q6QNY1-2]
    NP_001269367.1. NM_001282438.1. [Q6QNY1-2]
    NP_776170.2. NM_173809.4. [Q6QNY1-1]
    UniGeneiHs.34906.
    Hs.715064.

    Genome annotation databases

    EnsembliENST00000370372; ENSP00000359398; ENSG00000196072. [Q6QNY1-1]
    ENST00000441611; ENSP00000410865; ENSG00000196072. [Q6QNY1-2]
    GeneIDi282991.
    KEGGihsa:282991.
    UCSCiuc001kqw.2. human. [Q6QNY1-1]

    Polymorphism databases

    DMDMi74749300.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY531265 mRNA. Translation: AAT00461.1 .
    AY278457 mRNA. Translation: AAQ19606.1 .
    AK298969 mRNA. Translation: BAG61064.1 .
    AL138921 , AL139819 Genomic DNA. Translation: CAH72396.1 . Sequence problems.
    AL139819 , AL138921 Genomic DNA. Translation: CAH72821.1 . Sequence problems.
    CH471066 Genomic DNA. Translation: EAW49836.1 .
    BC020494 mRNA. Translation: AAH20494.1 . Different initiation.
    CCDSi CCDS7490.1. [Q6QNY1-1 ]
    RefSeqi NP_001001342.1. NM_001001342.2. [Q6QNY1-2 ]
    NP_001269366.1. NM_001282437.1. [Q6QNY1-2 ]
    NP_001269367.1. NM_001282438.1. [Q6QNY1-2 ]
    NP_776170.2. NM_173809.4. [Q6QNY1-1 ]
    UniGenei Hs.34906.
    Hs.715064.

    3D structure databases

    ProteinModelPortali Q6QNY1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129431. 18 interactions.
    IntActi Q6QNY1. 15 interactions.
    MINTi MINT-2812463.
    STRINGi 9606.ENSP00000351716.

    PTM databases

    PhosphoSitei Q6QNY1.

    Polymorphism databases

    DMDMi 74749300.

    Proteomic databases

    MaxQBi Q6QNY1.
    PaxDbi Q6QNY1.
    PeptideAtlasi Q6QNY1.
    PRIDEi Q6QNY1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370372 ; ENSP00000359398 ; ENSG00000196072 . [Q6QNY1-1 ]
    ENST00000441611 ; ENSP00000410865 ; ENSG00000196072 . [Q6QNY1-2 ]
    GeneIDi 282991.
    KEGGi hsa:282991.
    UCSCi uc001kqw.2. human. [Q6QNY1-1 ]

    Organism-specific databases

    CTDi 282991.
    GeneCardsi GC10M102023.
    HGNCi HGNC:20984. BLOC1S2.
    HPAi HPA048088.
    MIMi 609768. gene.
    neXtProti NX_Q6QNY1.
    PharmGKBi PA134936108.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG251755.
    HOGENOMi HOG000111279.
    HOVERGENi HBG079627.
    InParanoidi Q6QNY1.
    KOi K16750.
    OMAi NELCKDM.
    OrthoDBi EOG789CD7.
    PhylomeDBi Q6QNY1.
    TreeFami TF313861.

    Miscellaneous databases

    GeneWikii BLOC1S2.
    GenomeRNAii 282991.
    NextBioi 93554.
    PROi Q6QNY1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6QNY1.
    Bgeei Q6QNY1.
    CleanExi HS_BLOC1S2.
    Genevestigatori Q6QNY1.

    Family and domain databases

    InterProi IPR019269. BLOC1_su2.
    [Graphical view ]
    Pfami PF10046. BLOC1_2. 1 hit.
    [Graphical view ]
    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] (ISOFORM 1), IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION, INTERACTION WITH BLOC1S1; BLOC1S3; BLOC1S4; BLOC1S5 AND SNAPIN.
      Tissue: Cervix carcinoma.
    2. "Characterization of Ceap-11 and Ceap-16, two novel splicing-variant-proteins, associated with centrosome, microtubule aggregation and cell proliferation."
      Wang Z., Wei H., Yu Y., Sun J., Yang Y., Xing G., Wu S., Zhou Y., Zhu Y., Zhang C., Zhou T., Zhao X., Sun Q., He F.
      J. Mol. Biol. 343:71-82(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH GAMMA-TUBULIN, ALTERNATIVE SPLICING (ISOFORM 1).
      Tissue: Fetal liver.
    3. "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 1).
    4. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] OF 27-142 (ISOFORM 1).
      Tissue: Pancreas.
    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: FUNCTION.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "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.
    10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiBL1S2_HUMAN
    AccessioniPrimary (citable) accession number: Q6QNY1
    Secondary accession number(s): B4DQV2, Q5W040, Q8WUI8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 99 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 10
      Human chromosome 10: 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