| 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 (3) |
| | 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 | WBPaper00031040:TGF-beta_adult_downregulated |
| | | WBPaper00033065:cyc-1(RNAi)_downregulated |
| | | WBPaper00037950:A-class-motor-neurons_L1-larva_expressed |
| | | WBPaper00037950:A-class-motor-neurons_L2-larva_expressed |
| | | WBPaper00037950:all-neurons_L2-larva_expressed |
| | | WBPaper00037950:AVA-neuron_L1-larva_expressed |
| | | WBPaper00037950:AVE-neuron_L1-larva_expressed |
| | | WBPaper00037950:BAG-neuron_blastula-embryo_expressed |
| | | WBPaper00037950:CEP-sheath-cells_Day1-adult_expressed |
| | | WBPaper00037950:coelomocytes_L1-larva_expressed |
| | | WBPaper00037950:coelomocytes_L2-larva_expressed |
| | | WBPaper00037950:dopaminergic-neurons_L1-larva_expressed |
| | | WBPaper00037950:dopaminergic-neurons_L3-L4-larva_expressed |
| | | WBPaper00037950:excretory-cell_L2-larva_expressed |
| | | WBPaper00037950:excretory-cell_larva_enriched |
| | | WBPaper00037950:GABAergic-motor-neurons_L1-larva_expressed |
| | | WBPaper00037950:GABAergic-motor-neurons_L2-larva_expressed |
| | | WBPaper00037950:germline-precursors_blastula-embryo_expressed |
| | | WBPaper00037950:glr-1(+)-neurons_L2-larva_expressed |
| | | WBPaper00037950:hypodermis_L3-L4-larva_expressed |
| | | WBPaper00037950:intestine_L2-larva_expressed |
| | | WBPaper00037950:pharyngeal-muscle_L1-larva_expressed |
| | | WBPaper00042561:smg-2(RNAi)_downregulated |
| | | WBPaper00044656:tatn-1(qd182)_downregulated |
| | | WBPaper00044736:flat_dev_expression |
| | | WBPaper00045521:Gender_Neutral |
| | | WBPaper00045729:gld-2(RNAi)_downregulated |
| | | WBPaper00045974:NSM_enriched_totalRNA_RNAseq |
| | | WBPaper00048988:neuron_expressed |
| | | WBPaper00049545:jmjd-3.1(+)_downregulated |
| | | WBPaper00049942:hsf-1(RNAi)_downregulated |
| | | WBPaper00049954:BPA_upregulated |
| | | WBPaper00050225:flp-6(RNAi)_downregulated |
| | | WBPaper00050344:AFD-neuron_enriched |
| | | WBPaper00050488:adult_vs_dauer_regulated_N2_20C |
| | | WBPaper00050488:mir-34(gk437)_vs_mir-34(OverExpression)_regulated_dauer_20C |
| | | WBPaper00050990:GABAergic-neuron_expressed |
| | | WBPaper00050990:intestine_expressed |
| | | WBPaper00050990:NMDA-neuron_expressed |
| | | WBPaper00051039:germline_enriched |
| | | WBPaper00053184:sma-2(rax5)_downregulated |
| | | WBPaper00053184:sma-4(rax3)_downregulated |
| | | WBPaper00053302:zidovudine_72h_regulated |
| | | WBPaper00053321:PGCs_enriched_NuGen |
| | | WBPaper00055648:germline_expressed |
| | | WBPaper00056090:E.faecalis_downregulated_hpx-2(dg047) |
| | | WBPaper00056293:rpl-5(0)-rpl-33(0)_upregulated |
| | | WBPaper00057288:iff-1(RNAi)_upregulated_transcript |
| | | WBPaper00058598:sin-3(tm1276)_upregulated |
| | | WBPaper00058691:sin-3(tm1276)_upregulated |
| | | WBPaper00060683:hlh-11(ko1)_downregulated |
| | | WBPaper00060811:L1_vs_adult_upregulated_neural |
| | | WBPaper00061007:HB101_downregulated |
| | | WBPaper00061007:S.aquatilis_downregulated |
| | | WBPaper00061203:sin-3(tm1276)_downregulated |
| | | WBPaper00061274:hypergravity_10xg_upregulated |
| | | WBPaper00061340:Excretory_cell |
| | | WBPaper00061479:HDA-1_interacting_protein |
| | | WBPaper00061527:chn-1_12866-rab-21 |
| | | WBPaper00064088:Day-1-adult_vs_L4_upregulated_daf-16(mu86);glp-1(e2141) |
| | | WBPaper00064088:Day-3-adult_vs_L4_upregulated_daf-16(mu86);glp-1(e2141) |
| | | WBPaper00064130:Beta-Amyloid_upregulated_protein |
| | | WBPaper00064229:B.thuringiensis-Cry5Ba_downregulated |
| | | WBPaper00064716:paraquat_upregulated |
| | | WBPaper00065096:25C_vs_20C_upregulated |
| | | WBPaper00065096:Day10_vs_Day1_upregulated |
| | | WBPaper00065373:Cisplatin_upregulated_WT |
| | | WBPaper00065841:29_0 |
| | | WBPaper00065975:P-body_vs_WholeAnimal_enriched |
| | | WBPaper00065993:glp-1(e2141)_downregulated |
| | | WBPaper00025032:cluster_1 |
| | | WBPaper00025141:N2_Expressed_Genes |
| | | WBPaper00025141:unc-4::GFP_Expressed_Genes |
| | | WBPaper00026929:sir-2.1_overexpression_regulated |
| | | WBPaper00026980:intestine_enriched |
| | | WBPaper00035905:FBF-1_Associated |
| | | WBPaper00036286:Pattern_F |
| | | WBPaper00040603:tdp-1(lf)_up_vs_N2_FC_1.2 |
| | | WBPaper00040963:TA300_down |
| | | WBPaper00041606:CE_B.thuringiensis-DB27_regulated |
| | | WBPaper00041606:CE_X.nematophila_regulated |
| | | WBPaper00045263:0.1mM-paraquat_upregulated |
| | | WBPaper00048989:N2_rapamycin_downregulated |
| | | [cgc5767]:cluster_9 |
| | | [cgc5767]:expression_class_M |
| | | [cgc5767]:expression_class_SM |
| | | [cgc6390]:Cluster_E |
| | | [cgc6390]:mixed_oogenesis-somatic |
| | 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 |
