Biogenesis of lysosome-related organelles complex 1 subunit 1

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• endosomal transport Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• eye pigment granule organization Source: FlyBase <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.3

    "Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency."
    Cheli V.T., Daniels R.W., Godoy R., Hoyle D.J., Kandachar V., Starcevic M., Martinez-Agosto J.A., Poole S., DiAntonio A., Lloyd V.K., Chang H.C., Krantz D.E., Dell'Angelica E.C.
    Hum. Mol. Genet. 19:861-878(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION, INTERACTION WITH PLDN, DISRUPTION PHENOTYPE.
• neuromuscular synaptic transmission Source: FlyBaseInferred from mutant phenotypeⁱ
  • Ref.3

    "Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency."
    Cheli V.T., Daniels R.W., Godoy R., Hoyle D.J., Kandachar V., Starcevic M., Martinez-Agosto J.A., Poole S., DiAntonio A., Lloyd V.K., Chang H.C., Krantz D.E., Dell'Angelica E.C.
    Hum. Mol. Genet. 19:861-878(2010) [PubMed] [Europe PMC] [Abstract]

    Cited for: IDENTIFICATION IN THE BLOC-1 COMPLEX, FUNCTION, INTERACTION WITH PLDN, DISRUPTION PHENOTYPE.
• olfactory learning Source: FlyBaseInferred from mutant phenotypeⁱ
  • "Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity."
    Mullin A.P., Sadanandappa M.K., Ma W., Dickman D.K., VijayRaghavan K., Ramaswami M., Sanyal S., Faundez V.
    J. Neurosci. 35:325-338(2015) [PubMed] [Europe PMC] [Abstract]
• synapse organization Source: FlyBaseInferred from mutant phenotypeⁱ
  • "Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity."
    Mullin A.P., Sadanandappa M.K., Ma W., Dickman D.K., VijayRaghavan K., Ramaswami M., Sanyal S., Faundez V.
    J. Neurosci. 35:325-338(2015) [PubMed] [Europe PMC] [Abstract]
• synaptic vesicle recycling via endosome Source: FlyBaseInferred from mutant phenotypeⁱ
  • Ref.4

    "The BLOC-1 Subunit Pallidin Facilitates Activity-Dependent Synaptic Vesicle Recycling."
    Chen X., Ma W., Zhang S., Paluch J., Guo W., Dickman D.K.
    ENeuro 4:0-0(2017) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• synaptic vesicle transport Source: FlyBaseInferred from mutant phenotypeⁱ
  • "Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity."
    Mullin A.P., Sadanandappa M.K., Ma W., Dickman D.K., VijayRaghavan K., Ramaswami M., Sanyal S., Faundez V.
    J. Neurosci. 35:325-338(2015) [PubMed] [Europe PMC] [Abstract]

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Proteomic databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MLTSMVKEHH KEQAKRKQEQ EVRRKEAIEA SNELTQSLVD TLNVGVAQAY 
        60         70         80         90        100
LNQKRLDAEA KQLHLGATNF AKQTHQWLQL IDQFSTALKD LGDVENWARS 
       110        120        130        140 
IEGDMHTINQ TLELAYKASR ATQTSSGAGT SLEASTSASA SANPSAT    

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

Documents

1. SIMILARITY comments
   Index of protein domains and families
2. Drosophila
   Drosophila: entries, gene names and cross-references to FlyBase