WormBase Tree Display for Gene: WBGene00015327
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| WBGene00015327 | SMap | S_parent | Sequence | C02B10 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | snpn-1 | Person_evidence | WBPerson253 | |||||
| Sequence_name | C02B10.2 | ||||||||
| Molecular_name | C02B10.2 | ||||||||
| C02B10.2.1 | |||||||||
| CE24776 | |||||||||
| Other_name | CELE_C02B10.2 | Accession_evidence | NDB | BX284604 | |||||
| Public_name | snpn-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:30:55 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 31 Aug 2012 11:56:39 | WBPerson2970 | Name_change | CGC_name | snpn-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | snpn | ||||||||
| Allele | WBVar00424621 | ||||||||
| WBVar00908698 | |||||||||
| WBVar01794681 | |||||||||
| WBVar00250855 | |||||||||
| WBVar01499754 | |||||||||
| WBVar01499242 | |||||||||
| WBVar01499633 | |||||||||
| WBVar01481837 | |||||||||
| WBVar01500245 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (15) | |||||||||
| Ortholog (30) | |||||||||
| Structured_description | Automated_description | Predicted to enable SNARE binding activity. Involved in endosomal transport and positive regulation of intracellular protein transport. Predicted to be located in synaptic vesicle. Predicted to be part of BLOC-1 complex and BORC complex. Used to study Hermansky-Pudlak syndrome. Is an ortholog of human SNAPIN (SNAP associated protein). | 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 | 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 glo-2 and snpn-1 encode 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); snpn-1, but not glo-2 interacts with dsbn-1, which is similar to human dysbindin (DTNBP1), a mammalian BLOC-1 subunit; 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 | |||||||
| 607007 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 19 Feb 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000097 | ||||||||
| Molecular_info | Corresponding_CDS | C02B10.2 | |||||||
| Corresponding_transcript | C02B10.2.1 | ||||||||
| Other_sequence | CBC01342_1 | ||||||||
| Associated_feature (12) | |||||||||
| Experimental_info | RNAi_result | WBRNAi00008198 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00028325 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00009965 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00039386 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1019539 | ||||||||
| Expr1036564 | |||||||||
| Expr1143503 | |||||||||
| Expr2015964 | |||||||||
| Expr2034199 | |||||||||
| Drives_construct | WBCnstr00017656 | ||||||||
| WBCnstr00028932 | |||||||||
| Construct_product | WBCnstr00017656 | ||||||||
| WBCnstr00028932 | |||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (122) | |||||||||
| Interaction (60) | |||||||||
| Map_info | Map | IV | Position | 1.44248 | |||||
| Positive | Positive_clone | C02B10 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00038491 | ||||||||
| WBPaper00041456 | |||||||||
| WBPaper00042250 | |||||||||
| WBPaper00052655 | |||||||||
| WBPaper00052935 | |||||||||
| WBPaper00055090 | |||||||||
| 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 |
