WormBase Tree Display for Gene: WBGene00019010
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| WBGene00019010 | SMap | S_parent | Sequence | F57C9 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | glo-2 | Person_evidence | WBPerson253 | |||||
| Sequence_name | F57C9.3 | ||||||||
| Molecular_name | F57C9.3a | ||||||||
| F57C9.3a.1 | |||||||||
| CE48279 | |||||||||
| F57C9.3b | |||||||||
| CE46926 | |||||||||
| F57C9.3b.1 | |||||||||
| Other_name | CELE_F57C9.3 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | glo-2 | ||||||||
| DB_info | Database | AceView | gene | 1F407 | |||||
| WormQTL | gene | WBGene00019010 | |||||||
| WormFlux | gene | WBGene00019010 | |||||||
| OMIM | disease | 614171 | |||||||
| gene | 604310 | ||||||||
| NDB | locus_tag | CELE_F57C9.3 | |||||||
| NCBI | gene | 186447 | |||||||
| RefSeq | protein | NM_001306531.4 | |||||||
| NM_059060.3 | |||||||||
| SwissProt | UniProtAcc | O01822 | |||||||
| TrEMBL | UniProtAcc | M1ZK00 | |||||||
| UniProt_GCRP | UniProtAcc | O01822 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:01 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 06 Dec 2012 11:29:42 | WBPerson2970 | Name_change | CGC_name | glo-2 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | glo | ||||||||
| Allele (116) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (12) | |||||||||
| Contained_in_operon | CEOP1204 | ||||||||
| CEOP5596 | |||||||||
| Ortholog (15) | |||||||||
| Structured_description | Automated_description | Enables protein homodimerization activity. Involved in endosomal transport and positive regulation of intracellular protein transport. Located in endosome. Expressed in intestine and seam cell. 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 | 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 | |||||||
| 604310 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 19 Feb 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000098 | ||||||||
| Molecular_info | Corresponding_CDS | F57C9.3a | |||||||
| F57C9.3b | |||||||||
| Corresponding_CDS_history | F57C9.3:wp90 | ||||||||
| F57C9.3:wp229 | |||||||||
| Corresponding_transcript | F57C9.3a.1 | ||||||||
| F57C9.3b.1 | |||||||||
| Associated_feature | WBsf656259 | ||||||||
| WBsf656260 | |||||||||
| WBsf983514 | |||||||||
| WBsf983515 | |||||||||
| WBsf983516 | |||||||||
| WBsf1009717 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00048866 | Inferred_automatically | RNAi_primary | |||||
| Expr_pattern | Expr10568 | ||||||||
| Expr1012359 | |||||||||
| Expr1038211 | |||||||||
| Expr1152614 | |||||||||
| Expr2012106 | |||||||||
| Expr2030342 | |||||||||
| Microarray_results (16) | |||||||||
| Expression_cluster (49) | |||||||||
| SAGE_tag | SAGE:agcacgggaaacgaaat | Strand | Antisense | ||||||
| SAGE:cctacattccgattctg | Strand | Sense | |||||||
| Unambiguously_mapped | |||||||||
| SAGE:cctgtaggaactagaga | Strand | Antisense | |||||||
| SAGE:agcacgggaa | Strand | Antisense | |||||||
| Interaction (109) | |||||||||
| Map_info | Map | I | Position | -0.71238 | |||||
| Positive | Positive_clone | F57C9 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00025094 | ||||||||
| WBPaper00041456 | |||||||||
| WBPaper00042696 | |||||||||
| WBPaper00059101 | |||||||||
| WBPaper00061990 | |||||||||
| WBPaper00064980 | |||||||||
| 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 |
