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P78537

- BL1S1_HUMAN

UniProt

P78537 - BL1S1_HUMAN

Protein

Biogenesis of lysosome-related organelles complex 1 subunit 1

Gene

BLOC1S1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 2 (03 May 2011)
      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 negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5A1 and NDUFA9.2 Publications

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. aerobic respiration Source: UniProtKB
    2. anterograde axon cargo transport Source: UniProtKB
    3. anterograde synaptic vesicle transport Source: UniProtKB
    4. melanosome organization Source: UniProtKB
    5. membrane organization Source: Reactome
    6. neuron projection development Source: UniProtKB
    7. peptidyl-lysine acetylation Source: UniProtKB
    8. platelet dense granule organization Source: UniProtKB
    9. post-Golgi vesicle-mediated transport Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_19287. Lysosome Vesicle Biogenesis.
    REACT_19400. Golgi Associated Vesicle Biogenesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Biogenesis of lysosome-related organelles complex 1 subunit 1
    Short name:
    BLOC-1 subunit 1
    Alternative name(s):
    GCN5-like protein 1
    Protein RT14
    Gene namesi
    Name:BLOC1S1
    Synonyms:BLOS1, GCN5L1, RT14
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:4200. BLOC1S1.

    Subcellular locationi

    Mitochondrion intermembrane space 1 Publication. Mitochondrion matrix 1 Publication. Cytoplasmcytosol 1 Publication

    GO - Cellular componenti

    1. BLOC-1 complex Source: UniProtKB
    2. cytosol Source: UniProtKB
    3. extracellular space Source: UniProt
    4. extracellular vesicular exosome Source: UniProt
    5. lysosomal membrane Source: Reactome
    6. mitochondrial intermembrane space Source: UniProtKB
    7. mitochondrial matrix Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28617.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 153153Biogenesis of lysosome-related organelles complex 1 subunit 1PRO_0000156331Add
    BLAST

    Proteomic databases

    MaxQBiP78537.
    PaxDbiP78537.
    PRIDEiP78537.

    PTM databases

    PhosphoSiteiP78537.

    Expressioni

    Gene expression databases

    BgeeiP78537.
    CleanExiHS_BLOC1S1.
    GenevestigatoriP78537.

    Organism-specific databases

    HPAiHPA021381.

    Interactioni

    Subunit structurei

    Interacts with KXD1 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 ATP5A1 and NDUFA9; involved in their acetylation on lysine residues.By similarity3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ATP5A1P257052EBI-348630,EBI-351437
    BLOC1S2Q6QNY13EBI-348630,EBI-465872
    BLOC1S6Q9UL4510EBI-348630,EBI-465781
    DTNBP1Q96EV83EBI-348630,EBI-465804
    NDUFA9Q167953EBI-348630,EBI-1045087

    Protein-protein interaction databases

    BioGridi108917. 13 interactions.
    IntActiP78537. 12 interactions.
    MINTiMINT-1032542.
    STRINGi9606.ENSP00000257899.

    Structurei

    3D structure databases

    ProteinModelPortaliP78537.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili27 – 5933Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the BLOC1S1 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG287367.
    HOGENOMiHOG000005725.
    HOVERGENiHBG050694.
    InParanoidiP78537.
    OMAiWARSIEM.
    OrthoDBiEOG70ZZPM.
    TreeFamiTF314443.

    Family and domain databases

    InterProiIPR009395. GCN5L1.
    [Graphical view]
    PfamiPF06320. GCN5L1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative initiation. Align

    Isoform 1 (identifier: P78537-1) [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

    MAPGSRGERS SFRSRRGPGV PSPQPDVTML SRLLKEHQAK QNERKELQEK    50
    RRREAITAAT CLTEALVDHL NVGVAQAYMN QRKLDHEVKT LQVQAAQFAK 100
    QTGQWIGMVE NFNQALKEIG DVENWARSIE LDMRTIATAL EYVYKGQLQS 150
    APS 153
    Length:153
    Mass (Da):17,263
    Last modified:May 3, 2011 - v2
    Checksum:iB7D1FE64F242B25A
    GO
    Isoform 2 (identifier: P78537-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-28: Missing.

    Note: May be produced by alternative initiation at Met-27 of isoform 1. A polymorphism at position 9 leads to the creation of a stop codon. Isoform 2 is the the only form that exists in orthologs (except primates).

    Show »
    Length:125
    Mass (Da):14,311
    Checksum:i68E3FA07A0A4ECED
    GO

    Sequence cautioni

    The sequence AAB37682.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2828Missing in isoform 2. 2 PublicationsVSP_040954Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D64007 mRNA. Translation: BAA10887.1.
    AC009779 Genomic DNA. No translation available.
    BC130640 mRNA. Translation: AAI30641.1.
    BC132795 mRNA. Translation: AAI32796.1.
    S82447 mRNA. Translation: AAB37682.1. Different initiation.
    CCDSiCCDS8889.2. [P78537-1]
    PIRiJC4392.
    RefSeqiNP_001478.2. NM_001487.3. [P78537-1]
    UniGeneiHs.600940.
    Hs.94672.

    Genome annotation databases

    EnsembliENST00000548925; ENSP00000447537; ENSG00000135441. [P78537-1]
    GeneIDi2647.
    KEGGihsa:2647.
    UCSCiuc001shi.4. human. [P78537-1]

    Polymorphism databases

    DMDMi332278161.

    Keywords - Coding sequence diversityi

    Alternative initiation

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D64007 mRNA. Translation: BAA10887.1 .
    AC009779 Genomic DNA. No translation available.
    BC130640 mRNA. Translation: AAI30641.1 .
    BC132795 mRNA. Translation: AAI32796.1 .
    S82447 mRNA. Translation: AAB37682.1 . Different initiation.
    CCDSi CCDS8889.2. [P78537-1 ]
    PIRi JC4392.
    RefSeqi NP_001478.2. NM_001487.3. [P78537-1 ]
    UniGenei Hs.600940.
    Hs.94672.

    3D structure databases

    ProteinModelPortali P78537.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108917. 13 interactions.
    IntActi P78537. 12 interactions.
    MINTi MINT-1032542.
    STRINGi 9606.ENSP00000257899.

    PTM databases

    PhosphoSitei P78537.

    Polymorphism databases

    DMDMi 332278161.

    Proteomic databases

    MaxQBi P78537.
    PaxDbi P78537.
    PRIDEi P78537.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000548925 ; ENSP00000447537 ; ENSG00000135441 . [P78537-1 ]
    GeneIDi 2647.
    KEGGi hsa:2647.
    UCSCi uc001shi.4. human. [P78537-1 ]

    Organism-specific databases

    CTDi 2647.
    GeneCardsi GC12P056109.
    HGNCi HGNC:4200. BLOC1S1.
    HPAi HPA021381.
    MIMi 601444. gene.
    neXtProti NX_P78537.
    PharmGKBi PA28617.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287367.
    HOGENOMi HOG000005725.
    HOVERGENi HBG050694.
    InParanoidi P78537.
    OMAi WARSIEM.
    OrthoDBi EOG70ZZPM.
    TreeFami TF314443.

    Enzyme and pathway databases

    Reactomei REACT_19287. Lysosome Vesicle Biogenesis.
    REACT_19400. Golgi Associated Vesicle Biogenesis.

    Miscellaneous databases

    ChiTaRSi BLOC1S1. human.
    GeneWikii BLOC1S1.
    GenomeRNAii 2647.
    NextBioi 10446.
    PROi P78537.
    SOURCEi Search...

    Gene expression databases

    Bgeei P78537.
    CleanExi HS_BLOC1S1.
    Genevestigatori P78537.

    Family and domain databases

    InterProi IPR009395. GCN5L1.
    [Graphical view ]
    Pfami PF06320. GCN5L1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode."
      Watanabe T.K., Fujiwara T., Shinomiya H., Kuga Y., Hishigaki H., Nakamura Y., Hirai Y.
      DNA Res. 2:235-237(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Fetal brain.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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 2).
      Tissue: Brain.
    4. "Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator."
      Inoue M., Isomura M., Ikegawa S., Fujiwara T., Shin S., Moriya H., Nakamura Y.
      Cytogenet. Cell Genet. 73:134-136(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 11-153 (ISOFORM 1).
    5. "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: IDENTIFICATION IN THE BLOC-1 COMPLEX.
    6. "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.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Identification of a molecular component of the mitochondrial acetyl transferase program; a novel role for GCN5L1."
      Scott I., Webster B.R., Li J.H., Sack M.N.
      Biochem. J. 443:655-661(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN MITOCHONDRIAL PROTEIN ACETYLATION, FUNCTION IN AEROBIC RESPIRATION, SUBCELLULAR LOCATION, INTERACTION WITH ATP5A1 AND NDUFA9.
    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.

    Entry informationi

    Entry nameiBL1S1_HUMAN
    AccessioniPrimary (citable) accession number: P78537
    Secondary accession number(s): A1L4Q9, Q6NZ45
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: May 3, 2011
    Last modified: October 1, 2014
    This is version 110 of the entry and version 2 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 12
      Human chromosome 12: 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