WormBase Tree Display for Gene: WBGene00008415
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WBGene00008415 | SMap | S_parent | Sequence | D2030 | |||
---|---|---|---|---|---|---|---|
Identity (6) | |||||||
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 (5) | |||||||
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 |