WormBase Tree Display for Gene: WBGene00013697

WBGene00013697 SMap: S_parent: Sequence: Y106G6A
  Identity: Version: 2
    Name: CGC_name: dsbn-1 Person_evidence: WBPerson253
      Sequence_name: Y106G6A.5
      Molecular_name: Y106G6A.5a
        Y106G6A.5a.1
        CE19298
        Y106G6A.5b
        CE41040
        Y106G6A.5b.1
      Other_name: CELE_Y106G6A.5 Accession_evidence: NDB BX284601
      Public_name: dsbn-1
    DB_info: Database: AceView gene 1K510
        WormQTL gene WBGene00013697
        WormFlux gene WBGene00013697
        OMIM disease 614171
          gene 607145
        NDB locus_tag CELE_Y106G6A.5
        NCBI gene 172849
        RefSeq protein NM_060227.4
            NM_001129062.5
        SwissProt UniProtAcc Q9XWQ1
        TrEMBL UniProtAcc A5HW99
        UniProt_GCRP UniProtAcc Q9XWQ1
    Species: Caenorhabditis elegans
    History: Version_change: 1 26 May 2004 16:54:55 WBPerson1971 Event: Imported: Initial conversion from CDS class of WS125
        2 31 Aug 2012 11:56:39 WBPerson2970 Name_change: CGC_name: dsbn-1
    Status: Live
  Gene_info: Biotype: SO:0001217
    Gene_class: dsbn
    Allele (19)
    RNASeq_FPKM (74)
    GO_annotation: 00103745
      00103746
      00103747
    Contained_in_operon: CEOP1568
    Ortholog (20)
    Structured_description: Concise_description: dsbn-1 is an divergent ortholog of human Dystrobrevin-binding protein 1 or dysbindin (DTNBP1); in mammals dysbindin is a subunit of the BLOC1 complex which is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system known as LROs (lysosome-related organelles), such as melanosomes and platelet dense granules; in C. elegans, through it's physical association with other BLOC1 subunit homologs like snpn-1/Snapin, dsbn-1 is most likely involved in biogenesis of gut granules which are intestinal cell-specific LROs. Paper_evidence: WBPaper00028840
            WBPaper00041456
          Curator_confirmed: WBPerson324
            WBPerson567
          Date_last_updated: 19 Feb 2014 00:00:00
      Automated_description: Involved in endosomal transport. Predicted to be part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome. Paper_evidence: WBPaper00065943
          Curator_confirmed: WBPerson324
            WBPerson37462
          Inferred_automatically: This description was generated automatically by a script based on data from the WS291 version of WormBase
          Date_last_updated: 29 Nov 2023 00:00:00
  Disease_info: Experimental_model: DOID:3753 Homo sapiens Paper_evidence: WBPaper00041456
          Accession_evidence: OMIM 614171
          Curator_confirmed: WBPerson324
          Date_last_updated: 17 Oct 2018 00:00:00
    Disease_relevance: Human dysbindin (DTNBP1), is a key component of biogenesis of lysosome-related organelles complex-1 (BLOC-1), which regulates the trafficking of proteins in the lysosomal pathway; defective formation of lysosome-related organelles (LROs) underlies the human disease Hermansky-Pudlak syndrome (HPS); the nine genes currently implicated in causing HPS encode subunits of the AP-3, BLOC-1, BLOC-2, or BLOC-3 complexes; BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules; C. elegans dsbn-1, glo-2 and snpn-1 encode homologs of Disbindin, Pallidin and Snapin, which are BLOC-1 subunit homologs, respectively; studies in elegans show that snpn-1 and glo-2 function in trafficking to, and biogenesis of gut granules (gut granules are intestinal cell-specific LROs) and snpn-1, but not glo-2, interacts with dsbn-1; this system provides an in vivo model to study the genetics and interactions of BLOC1 subunits. Homo sapiens Paper_evidence: WBPaper00041456
          Accession_evidence: OMIM 614171
              607145
          Curator_confirmed: WBPerson324
          Date_last_updated: 19 Feb 2014 00:00:00
  Models_disease_in_annotation: WBDOannot00000273
  Molecular_info: Corresponding_CDS: Y106G6A.5a
      Y106G6A.5b
    Corresponding_transcript: Y106G6A.5a.1
      Y106G6A.5b.1
    Other_sequence (26)
    Associated_feature: WBsf220165
      WBsf220166
  Experimental_info: RNAi_result: WBRNAi00055249 Inferred_automatically: RNAi_primary
      WBRNAi00066112 Inferred_automatically: RNAi_primary
      WBRNAi00004492 Inferred_automatically: RNAi_primary
      WBRNAi00036511 Inferred_automatically: RNAi_primary
      WBRNAi00061910 Inferred_automatically: RNAi_primary
      WBRNAi00004491 Inferred_automatically: RNAi_primary
    Expr_pattern: Expr1028351
      Expr1036125
      Expr1158788
      Expr2011100
      Expr2029336
    Drives_construct: WBCnstr00029559
    Construct_product: WBCnstr00029559
    Microarray_results (21)
    Expression_cluster (88)
    Interaction (17)
  Map_info: Map: I Position: 4.07364
    Positive: Positive_clone: Y106G6A Inferred_automatically: From sequence, transcript, pseudogene data
    Pseudo_map_position
  Reference: WBPaper00028984
  Remark: Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. CGC_data_submission
  Method: Gene