WormBase Tree Display for Gene: WBGene00000846
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| WBGene00000846 | Evidence | CGC_data_submission | |||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | R13A5 | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | cup-5 | Person_evidence | WBPerson170 | |||||
| Sequence_name | R13A5.1 | ||||||||
| Molecular_name (16) | |||||||||
| Other_name | muc-1 | ||||||||
| CELE_R13A5.1 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | cup-5 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:21 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | cup | ||||||||
| Allele (115) | |||||||||
| Legacy_information | [B Hersch] maternal-effect embryonic lethal.highly similar to human mucolipidosis type IV gene | ||||||||
| Strain | WBStrain00001216 | ||||||||
| WBStrain00026333 | |||||||||
| WBStrain00026337 | |||||||||
| WBStrain00026338 | |||||||||
| WBStrain00026347 | |||||||||
| WBStrain00027362 | |||||||||
| WBStrain00030564 | |||||||||
| WBStrain00036441 | |||||||||
| WBStrain00008039 | |||||||||
| WBStrain00008048 | |||||||||
| Component_of_genotype | WBGenotype00000070 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (36) | |||||||||
| Ortholog (51) | |||||||||
| Structured_description | Concise_description | The cup-5 gene encodes an ortholog of the human mucolipin 1 gene; cup-5 is required for viability, endo-lysosomal transport and the normal degradation of lysosomes; cup-5 mutants also show increased cell death, which might be a secondary consequence of lysosomal dysfunction; the inactivation of mrp-4 which is a ABCC transporter rescues most of the defects in cup-5 mutants, suggesting that the accumulation of ABC transporters in the absence of cup-5, may contribute to the lysosomal defects; cup-5 localizes to lysosomes. | Paper_evidence | WBPaper00004655 | |||||
| WBPaper00004883 | |||||||||
| WBPaper00005190 | |||||||||
| WBPaper00012824 | |||||||||
| WBPaper00028447 | |||||||||
| WBPaper00036378 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 13 Jun 2011 00:00:00 | ||||||||
| Automated_description | Predicted to enable NAADP-sensitive calcium-release channel activity and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including cuticle development involved in collagen and cuticulin-based cuticle molting cycle; determination of adult lifespan; and lysosomal lumen acidification. Located in endolysosome and lysosomal membrane. Expressed in coelomocyte; head; intestinal cell; and neurons. Used to study mucolipidosis type IV. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis type IV. Is an ortholog of human MCOLN1 (mucolipin TRP cation channel 1); MCOLN2 (mucolipin TRP cation channel 2); and MCOLN3 (mucolipin TRP cation channel 3). | 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:0080490 | Homo sapiens | Paper_evidence | WBPaper00036378 | ||||
| WBPaper00027160 | |||||||||
| WBPaper00005190 | |||||||||
| WBPaper00028447 | |||||||||
| Accession_evidence | OMIM | 252650 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 19 Aug 2021 00:00:00 | ||||||||
| Potential_model | DOID:3343 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:13356) | |||||
| DOID:0080490 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:13356) | ||||||
| Disease_relevance | The human ortholog of the elegans cup-5 gene, mucolipin 1 is mutated in Mucolipidosis type IV, which is an an autosomal recessive neurodegenerative lysosomal storage disorder; human mucolipin 1 functions as a pH-modulated non-selective cation channel; studies in C. elegans indicate that cup-5/Mucolipin 1 is required for proper functioning of the lysosome, loss of cup-5 leads to lysosomal degradation, and that the accumulation of ABC transporters (mrp-4 in elegans) in lysosomes, might be a general mechanism by which an initial lysosomal defect is exacerbated. | Homo sapiens | Paper_evidence | WBPaper00004655 | |||||
| WBPaper00004883 | |||||||||
| WBPaper00005190 | |||||||||
| WBPaper00012824 | |||||||||
| WBPaper00028447 | |||||||||
| WBPaper00036378 | |||||||||
| Accession_evidence | OMIM | 252650 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 02 May 2013 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000001 | ||||||||
| WBDOannot00001000 | |||||||||
| WBDOannot00001001 | |||||||||
| WBDOannot00001002 | |||||||||
| WBDOannot00001156 | |||||||||
| Molecular_info | Corresponding_CDS | R13A5.1a | |||||||
| R13A5.1b | |||||||||
| R13A5.1c | |||||||||
| R13A5.1d | |||||||||
| R13A5.1e | |||||||||
| Corresponding_CDS_history | R13A5.1c:wp102 | ||||||||
| R13A5.1c:wp226 | |||||||||
| R13A5.1d:wp102 | |||||||||
| R13A5.1d:wp214 | |||||||||
| Corresponding_transcript | R13A5.1a.1 | ||||||||
| R13A5.1a.2 | |||||||||
| R13A5.1b.1 | |||||||||
| R13A5.1c.1 | |||||||||
| R13A5.1d.1 | |||||||||
| R13A5.1e.1 | |||||||||
| Other_sequence (27) | |||||||||
| Associated_feature | WBsf645349 | ||||||||
| WBsf645350 | |||||||||
| WBsf659184 | |||||||||
| WBsf659185 | |||||||||
| WBsf993047 | |||||||||
| WBsf225268 | |||||||||
| WBsf225269 | |||||||||
| WBsf225270 | |||||||||
| Experimental_info | RNAi_result (17) | ||||||||
| Expr_pattern (12) | |||||||||
| Drives_construct | WBCnstr00002109 | ||||||||
| WBCnstr00011021 | |||||||||
| WBCnstr00013006 | |||||||||
| WBCnstr00013576 | |||||||||
| WBCnstr00037249 | |||||||||
| WBCnstr00041573 | |||||||||
| Construct_product | WBCnstr00000239 | ||||||||
| WBCnstr00000252 | |||||||||
| WBCnstr00006908 | |||||||||
| WBCnstr00006909 | |||||||||
| WBCnstr00013576 | |||||||||
| WBCnstr00022480 | |||||||||
| WBCnstr00037249 | |||||||||
| Microarray_results (41) | |||||||||
| Expression_cluster (127) | |||||||||
| Interaction (30) | |||||||||
| Map_info | Map | III | Position | -0.663506 | Error | 0.001899 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | R13A5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 3953 | |||||||
| 5355 | |||||||||
| Reference (58) | |||||||||
| Remark | Sequence connection from [Hersh BM, Horvitz HR] | ||||||||
| Method | Gene |
