WormBase Tree Display for Gene: WBGene00008415
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| WBGene00008415 | SMap | S_parent | Sequence | D2030 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | mce-1 | Paper_evidence | WBPaper00025019 | |||||
| Sequence_name | D2030.5 | ||||||||
| Molecular_name | D2030.5 | ||||||||
| D2030.5.1 | |||||||||
| CE09082 | |||||||||
| Other_name | CELE_D2030.5 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | mce-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:49 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| 2 | 09 Jun 2005 10:01:00 | WBPerson2970 | Name_change | CGC_name | mce-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mce | ||||||||
| Allele (18) | |||||||||
| Strain | WBStrain00033923 | ||||||||
| WBStrain00031343 | |||||||||
| WBStrain00055595 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00016080 | ||||||||
| 00016081 | |||||||||
| 00016082 | |||||||||
| Ortholog (33) | |||||||||
| Structured_description | Automated_description | Predicted to enable methylmalonyl-CoA epimerase activity. Predicted to be involved in L-methylmalonyl-CoA metabolic process. Located in mitochondrion. Expressed in body wall musculature; hypodermis; intestine; and pharynx. Used to study methylmalonic acidemia. Is an ortholog of human MCEE (methylmalonyl-CoA epimerase). | 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:14749 | Homo sapiens | Paper_evidence | WBPaper00027754 | ||||
| Accession_evidence | OMIM | 251000 | |||||||
| 251100 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 09 Oct 2018 00:00:00 | ||||||||
| Disease_relevance | Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (vitamin B12) metabolism; the metabolism of propionyl-CoA to succinyl-CoA via the formation and isomerization of methylmalonyl-CoA is a critical metabolic pathway in humans; the defective conversion of L-methylmalonyl-CoA to succinyl-CoA in the mitochondrial matrix causes hereditary methylmalonic acidemias, characterized by the accumulation of methylmalonic acid in tissues and secondary metabolic perturbations such as hyperglycinemia and hyperammonemia; affected individuals may suffer from developmental delay, renal disease, pancreatitis and metabolic infarction of the basal ganglia; C.elegans expresses the full complement of mammalian homologues for the conversion of propionyl-CoA to succinyl-CoA, including propionyl-CoA carboxylase subunits A and B (pcca-1,pccb-1), methylmalonic acidemia cobalamin A complementation group (mmaa-1), co(I)balaminadenosyltransferase (mmab-1), MMACHC (cblc-1), methylmalonyl-CoA epimerase (mce-1) and methylmalonyl-CoA mutase (mmcm-1); deletion mutants of mmcm-1(ok1637), mmab-1(ok1484 and ok1493) and mce-1(ok243) displayed reduced 1-[14C]-propionate incorporation into macromolecules and produced increased amounts of methylmalonic acid in the culture medium, proving that a functional block in the pathway caused metabolite accumulation; lentiviral delivery of the C. elegans mmcm-1 into fibroblasts derived from a patient with mut class methylmalonic acidemia could partially restore propionate flux; the C. elegans mce-1 deletion mutant demonstrates for the first time that a lesion at the epimerase step of methylmalonyl-CoA metabolism can functionally impair flux through the methylmalonyl-CoA mutase pathway and suggests that malfunction of MCEE may cause methylmalonic acidemia in humans. | Homo sapiens | Paper_evidence | WBPaper00027754 | |||||
| Accession_evidence | OMIM | 251000 | |||||||
| 251100 | |||||||||
| 608419 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 29 May 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000162 | ||||||||
| Molecular_info | Corresponding_CDS | D2030.5 | |||||||
| Corresponding_transcript | D2030.5.1 | ||||||||
| Other_sequence (97) | |||||||||
| Associated_feature | WBsf643466 | ||||||||
| WBsf218034 | |||||||||
| WBsf218035 | |||||||||
| WBsf218036 | |||||||||
| WBsf218037 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00116911 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00043475 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00030402 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00003286 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Chronogram264 | ||||||||
| Expr3793 | |||||||||
| Expr8626 | |||||||||
| Expr8627 | |||||||||
| Expr9517 | |||||||||
| Expr1011053 | |||||||||
| Expr1033651 | |||||||||
| Expr1147468 | |||||||||
| Expr2013447 | |||||||||
| Expr2031681 | |||||||||
| Drives_construct | WBCnstr00001074 | ||||||||
| WBCnstr00011664 | |||||||||
| WBCnstr00013405 | |||||||||
| WBCnstr00013406 | |||||||||
| WBCnstr00032981 | |||||||||
| Construct_product | WBCnstr00013405 | ||||||||
| WBCnstr00013406 | |||||||||
| WBCnstr00014082 | |||||||||
| WBCnstr00032981 | |||||||||
| Microarray_results (25) | |||||||||
| Expression_cluster (160) | |||||||||
| Interaction (11) | |||||||||
| Map_info | Map | I | Position | 2.17144 | Error | 0.00938 | |||
| Positive | Positive_clone | D2030 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 5298 | |||||||
| 4887 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (13) | |||||||||
| 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 |
