WormBase Tree Display for Gene: WBGene00016507
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| WBGene00016507 | SMap | S_parent | Sequence | C37H5 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | abhd-5.2 | Person_evidence | WBPerson14710 | |||||
| Sequence_name | C37H5.3 | ||||||||
| Molecular_name | C37H5.3a | ||||||||
| C37H5.3a.1 | |||||||||
| CE08627 | |||||||||
| C37H5.3b | |||||||||
| CE32824 | |||||||||
| C37H5.3b.1 | |||||||||
| Other_name | cgi-58 | Person_evidence | WBPerson542 | ||||||
| C37H5.m | Curator_confirmed | WBPerson1983 | |||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_C37H5.3 | Accession_evidence | NDB | BX284605 | ||||||
| Public_name | abhd-5.2 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:30:57 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 17 Jul 2015 12:44:10 | WBPerson2970 | Name_change | Other_name | cgi-58 | ||||
| Status | Live | ||||||||
| Gene_info (9) | |||||||||
| Disease_info | Experimental_model | DOID:0050729 | Homo sapiens | Paper_evidence | WBPaper00046951 | ||||
| Accession_evidence | OMIM | 275630 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 30 Jun 2015 00:00:00 | ||||||||
| Potential_model | DOID:0060656 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:21396) | |||||
| DOID:234 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:21396) | ||||||
| DOID:0050729 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:21396) | ||||||
| Disease_relevance | Mutations in human ABHD5 (Chanarin-Dorfman Syndrome (Neutral liped storage disease) is a rare metabolic disease caused by a failure in lipid breakdown and abnormal lipid accumulation in tissues and organs; this condition is characterized by dry, scaly skin (ichthyosis), other characteristics include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), and mild intellectual disability; ABHD5 functions as a coactivator of adipocyte triglyceride lipase (ATGL); in C. elegans reducing the levels of one of the orthologs of ABHD5, cgi-58, enhances the survival of AMPK (AMP-activated kinase) deficient dauer larvae; cgi-58 physically interacts with ATGL-1 in vivo and affects it''s localization on lipid droplets, cgi-58 also affects lipid droplet size; cgi-58 also prevents lipid droplet fusion independently of ATGL, indicating it has ATGL-1 independent cellular functions; this function is conserved in higher animals as well, as demonstrated in CGI-58-deficient mouse embryonic fibroblasts, suggesting that CGI-58 may play an evolutionarily conserved role in restricting lipid droplet encounters and coalescence across species. | Homo sapiens | Paper_evidence | WBPaper00046951 | |||||
| Accession_evidence | OMIM | 275630 | |||||||
| 604780 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 08 Sep 2015 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000349 | ||||||||
| Molecular_info | Corresponding_CDS | C37H5.3a | |||||||
| C37H5.3b | |||||||||
| Corresponding_transcript | C37H5.3a.1 | ||||||||
| C37H5.3b.1 | |||||||||
| Other_sequence (14) | |||||||||
| Associated_feature | WBsf646778 | ||||||||
| WBsf661241 | |||||||||
| WBsf981928 | |||||||||
| WBsf1019561 | |||||||||
| WBsf231701 | |||||||||
| WBsf231702 | |||||||||
| Experimental_info | RNAi_result (10) | ||||||||
| Expr_pattern | Expr12397 | ||||||||
| Expr1023309 | |||||||||
| Expr1037078 | |||||||||
| Expr1146126 | |||||||||
| Expr2009091 | |||||||||
| Expr2027327 | |||||||||
| Drives_construct | WBCnstr00021003 | ||||||||
| WBCnstr00028009 | |||||||||
| Construct_product | WBCnstr00021003 | ||||||||
| WBCnstr00028009 | |||||||||
| Microarray_results (27) | |||||||||
| Expression_cluster (164) | |||||||||
| Interaction (65) | |||||||||
| Map_info | Map | V | Position | -4.04252 | |||||
| Positive | Positive_clone | C37H5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00038491 | ||||||||
| WBPaper00046951 | |||||||||
| WBPaper00050547 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00060484 | |||||||||
| 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 |
