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Q8TDH9

- BL1S5_HUMAN

UniProt

Q8TDH9 - BL1S5_HUMAN

Protein

Biogenesis of lysosome-related organelles complex 1 subunit 5

Gene

BLOC1S5

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 (01 Jun 2002)
      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.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    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. melanosome organization Source: UniProtKB
    5. melanosome transport Source: UniProtKB
    6. neuron projection development Source: UniProtKB
    7. positive regulation of pigment cell differentiation Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 5
    Short name:
    BLOC-1 subunit 5
    Alternative name(s):
    Protein Muted homolog
    Gene namesi
    Name:BLOC1S5
    Synonyms:MUTED
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:18561. BLOC1S5.

    Subcellular locationi

    GO - Cellular componenti

    1. BLOC-1 complex Source: UniProtKB
    2. transport vesicle Source: UniProtKB

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134921692.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 187186Biogenesis of lysosome-related organelles complex 1 subunit 5PRO_0000096651Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8TDH9.
    PaxDbiQ8TDH9.
    PRIDEiQ8TDH9.

    PTM databases

    PhosphoSiteiQ8TDH9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TDH9.
    BgeeiQ8TDH9.
    GenevestigatoriQ8TDH9.

    Organism-specific databases

    HPAiCAB025613.

    Interactioni

    Subunit structurei

    Interacts with BLOC1S4, DTNBP1/BLOC1S7 and PI4K2A 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 with BLOC1S6.By similarity4 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    BLOC1S2Q6QNY12EBI-465861,EBI-465872
    BLOC1S6Q9UL452EBI-465861,EBI-465781
    DTNBP1Q96EV83EBI-465861,EBI-465804

    Protein-protein interaction databases

    BioGridi121986. 10 interactions.
    IntActiQ8TDH9. 7 interactions.
    STRINGi9606.ENSP00000380598.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDH9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili154 – 18633Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the BLOC1S5 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG43601.
    HOGENOMiHOG000290689.
    HOVERGENiHBG045594.
    OMAiEQYSEME.
    OrthoDBiEOG7RZ5RX.
    PhylomeDBiQ8TDH9.
    TreeFamiTF332943.

    Family and domain databases

    InterProiIPR017243. Bloc1s5.
    [Graphical view]
    PANTHERiPTHR31784. PTHR31784. 1 hit.
    PfamiPF14942. Muted. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037610. BLOC-1_complex_muted_subunit. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TDH9-1) [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

    MSGGGTETPV GCEAAPGGGS KKRDSLGTAG SAHLIIKDLG EIHSRLLDHR    50
    PVIQGETRYF VKEFEEKRGL REMRVLENLK NMIHETNEHT LPKCRDTMRD 100
    SLSQVLQRLQ AANDSVCRLQ QREQERKKIH SDHLVASEKQ HMLQWDNFMK 150
    EQPNKRAEVD EEHRKAMERL KEQYAEMEKD LAKFSTF 187
    Length:187
    Mass (Da):21,609
    Last modified:June 1, 2002 - v1
    Checksum:i790D4DE8E97D83D1
    GO
    Isoform 2 (identifier: Q8TDH9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         109-110: LQ → YS
         111-187: Missing.

    Note: Gene prediction based on EST data. No experimental confirmation available.

    Show »
    Length:110
    Mass (Da):12,305
    Checksum:i3B1A7044492F2A1E
    GO
    Isoform 3 (identifier: Q8TDH9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-65: MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFE → M

    Note: No experimental confirmation available.

    Show »
    Length:123
    Mass (Da):14,893
    Checksum:iF6D7D10D6C28EEF7
    GO

    Sequence cautioni

    The sequence AAH32438.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence CAI20106.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI21645.1 differs from that shown. Reason: Erroneous gene model prediction.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6565MSGGG…VKEFE → M in isoform 3. 1 PublicationVSP_045013Add
    BLAST
    Alternative sequencei109 – 1102LQ → YS in isoform 2. CuratedVSP_015088
    Alternative sequencei111 – 18777Missing in isoform 2. CuratedVSP_015089Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF426434 mRNA. Translation: AAL99385.1.
    AK301142 mRNA. Translation: BAG62734.1.
    CR749569 mRNA. Translation: CAH18364.1.
    AL096800, AL023694 Genomic DNA. Translation: CAI20106.1. Sequence problems.
    AL023694, AL096800 Genomic DNA. Translation: CAI21645.1. Sequence problems.
    BC032438 mRNA. Translation: AAH32438.1. Different initiation.
    BC119644 mRNA. Translation: AAI19645.1.
    BC119645 mRNA. Translation: AAI19646.1.
    CCDSiCCDS4506.1. [Q8TDH9-1]
    CCDS56395.1. [Q8TDH9-3]
    RefSeqiNP_001186251.1. NM_001199322.1. [Q8TDH9-3]
    NP_958437.1. NM_201280.2. [Q8TDH9-1]
    UniGeneiHs.719272.

    Genome annotation databases

    EnsembliENST00000397457; ENSP00000380598; ENSG00000188428. [Q8TDH9-1]
    ENST00000543936; ENSP00000445215; ENSG00000188428. [Q8TDH9-3]
    GeneIDi63915.
    KEGGihsa:63915.
    UCSCiuc003mxy.3. human. [Q8TDH9-1]
    uc010joc.3. human.
    uc021ylf.1. human. [Q8TDH9-2]

    Polymorphism databases

    DMDMi34582369.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF426434 mRNA. Translation: AAL99385.1 .
    AK301142 mRNA. Translation: BAG62734.1 .
    CR749569 mRNA. Translation: CAH18364.1 .
    AL096800 , AL023694 Genomic DNA. Translation: CAI20106.1 . Sequence problems.
    AL023694 , AL096800 Genomic DNA. Translation: CAI21645.1 . Sequence problems.
    BC032438 mRNA. Translation: AAH32438.1 . Different initiation.
    BC119644 mRNA. Translation: AAI19645.1 .
    BC119645 mRNA. Translation: AAI19646.1 .
    CCDSi CCDS4506.1. [Q8TDH9-1 ]
    CCDS56395.1. [Q8TDH9-3 ]
    RefSeqi NP_001186251.1. NM_001199322.1. [Q8TDH9-3 ]
    NP_958437.1. NM_201280.2. [Q8TDH9-1 ]
    UniGenei Hs.719272.

    3D structure databases

    ProteinModelPortali Q8TDH9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121986. 10 interactions.
    IntActi Q8TDH9. 7 interactions.
    STRINGi 9606.ENSP00000380598.

    PTM databases

    PhosphoSitei Q8TDH9.

    Polymorphism databases

    DMDMi 34582369.

    Proteomic databases

    MaxQBi Q8TDH9.
    PaxDbi Q8TDH9.
    PRIDEi Q8TDH9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000397457 ; ENSP00000380598 ; ENSG00000188428 . [Q8TDH9-1 ]
    ENST00000543936 ; ENSP00000445215 ; ENSG00000188428 . [Q8TDH9-3 ]
    GeneIDi 63915.
    KEGGi hsa:63915.
    UCSCi uc003mxy.3. human. [Q8TDH9-1 ]
    uc010joc.3. human.
    uc021ylf.1. human. [Q8TDH9-2 ]

    Organism-specific databases

    CTDi 63915.
    GeneCardsi GC06M008014.
    HGNCi HGNC:18561. BLOC1S5.
    HPAi CAB025613.
    MIMi 607289. gene.
    neXtProti NX_Q8TDH9.
    PharmGKBi PA134921692.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG43601.
    HOGENOMi HOG000290689.
    HOVERGENi HBG045594.
    OMAi EQYSEME.
    OrthoDBi EOG7RZ5RX.
    PhylomeDBi Q8TDH9.
    TreeFami TF332943.

    Miscellaneous databases

    GeneWikii MUTED.
    GenomeRNAii 63915.
    NextBioi 65632.
    PROi Q8TDH9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TDH9.
    Bgeei Q8TDH9.
    Genevestigatori Q8TDH9.

    Family and domain databases

    InterProi IPR017243. Bloc1s5.
    [Graphical view ]
    PANTHERi PTHR31784. PTHR31784. 1 hit.
    Pfami PF14942. Muted. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037610. BLOC-1_complex_muted_subunit. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking."
      Zhang Q., Li W., Novak E.K., Karim A., Mishra V.S., Kingsmore S.F., Roe B.A., Suzuki T., Swank R.T.
      Hum. Mol. Genet. 11:697-706(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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 1).
      Tissue: Spleen.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Retina.
    4. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [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] (ISOFORMS 1 AND 3).
      Tissue: Lymph.
    6. "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: INTERACTION WITH BLOC1S6.
    7. "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: INTERACTION WITH BLOC1S6.
    8. "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.
    9. "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: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    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 nameiBL1S5_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDH9
    Secondary accession number(s): B4DVM2
    , Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q9NU16
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 9, 2003
    Last sequence update: June 1, 2002
    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 6
      Human chromosome 6: 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