WormBase Tree Display for Gene: WBGene00000846
expand all nodes | collapse all nodes | view schema
| 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 (38) | |||||||||
| Ortholog (48) | |||||||||
| 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 Lisch epithelial corneal dystrophy; 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 | ||||||
| WBPaper00067038 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson37462 | |||||||||
| Inferred_automatically | This description was generated automatically by a script based on data from the WS296 version of WormBase | ||||||||
| Date_last_updated | 20 Mar 2025 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) | ||||||
| DOID:0060450 | 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 (131) | |||||||||
| 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 (60) | |||||||||
| Remark | Sequence connection from [Hersh BM, Horvitz HR] | ||||||||
| Method | Gene |
