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 | Biotype | SO:0001217 | |||||||
| Gene_class | abhd | ||||||||
| Allele (47) | |||||||||
| Strain | WBStrain00033061 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (11) | |||||||||
| Ortholog (38) | |||||||||
| Paralog (14) | |||||||||
| Structured_description | Automated_description | Predicted to enable carboxylic ester hydrolase activity and lysophosphatidic acid acyltransferase activity. Predicted to be involved in lipid homeostasis and phosphatidic acid biosynthetic process. Predicted to be located in lipid droplet and mitochondrion. Expressed in hypodermis. Used to study Chanarin-Dorfman syndrome. Human ortholog(s) of this gene implicated in Chanarin-Dorfman syndrome; autosomal recessive congenital ichthyosis 1; and colon adenocarcinoma. Is an ortholog of human ABHD4 (abhydrolase domain containing 4, N-acyl phospholipase B) and ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase). | 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: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 | WBInteraction000050704 | ||||||||
| WBInteraction000110567 | |||||||||
| WBInteraction000110568 | |||||||||
| WBInteraction000111333 | |||||||||
| WBInteraction000121055 | |||||||||
| WBInteraction000122161 | |||||||||
| WBInteraction000146385 | |||||||||
| WBInteraction000150400 | |||||||||
| WBInteraction000156101 | |||||||||
| WBInteraction000160009 | |||||||||
| WBInteraction000164932 | |||||||||
| WBInteraction000175914 | |||||||||
| WBInteraction000176639 | |||||||||
| WBInteraction000179846 | |||||||||
| WBInteraction000183809 | |||||||||
| WBInteraction000188512 | |||||||||
| WBInteraction000191210 | |||||||||
| WBInteraction000197634 | |||||||||
| WBInteraction000209397 | |||||||||
| WBInteraction000213365 | |||||||||
| WBInteraction000214120 | |||||||||
| WBInteraction000216702 | |||||||||
| WBInteraction000217673 | |||||||||
| WBInteraction000226498 | |||||||||
| WBInteraction000238576 | |||||||||
| WBInteraction000241079 | |||||||||
| WBInteraction000242103 | |||||||||
| WBInteraction000243157 | |||||||||
| WBInteraction000246367 | |||||||||
| WBInteraction000251263 | |||||||||
| WBInteraction000252457 | |||||||||
| WBInteraction000254720 | |||||||||
| WBInteraction000255380 | |||||||||
| WBInteraction000258685 | |||||||||
| WBInteraction000270828 | |||||||||
| WBInteraction000275424 | |||||||||
| WBInteraction000278194 | |||||||||
| WBInteraction000280911 | |||||||||
| WBInteraction000304470 | |||||||||
| WBInteraction000308967 | |||||||||
| WBInteraction000313675 | |||||||||
| WBInteraction000317052 | |||||||||
| WBInteraction000328417 | |||||||||
| WBInteraction000329660 | |||||||||
| WBInteraction000330702 | |||||||||
| WBInteraction000331090 | |||||||||
| WBInteraction000332500 | |||||||||
| WBInteraction000345927 | |||||||||
| WBInteraction000378856 | |||||||||
| WBInteraction000378945 | |||||||||
| WBInteraction000379680 | |||||||||
| WBInteraction000383826 | |||||||||
| WBInteraction000385598 | |||||||||
| WBInteraction000387498 | |||||||||
| WBInteraction000395784 | |||||||||
| WBInteraction000415238 | |||||||||
| WBInteraction000415852 | |||||||||
| WBInteraction000434705 | |||||||||
| WBInteraction000441261 | |||||||||
| WBInteraction000456020 | |||||||||
| WBInteraction000464366 | |||||||||
| WBInteraction000465985 | |||||||||
| WBInteraction000467582 | |||||||||
| WBInteraction000474176 | |||||||||
| WBInteraction000561326 | |||||||||
| 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 |
