WormBase Tree Display for Gene: WBGene00016144
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| WBGene00016144 | SMap | S_parent | Sequence | C26E6 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 3 | |||||||
| Name | CGC_name | mmab-1 | Person_evidence | WBPerson4387 | |||||
| WBPerson4388 | |||||||||
| Sequence_name | C26E6.11 | ||||||||
| Molecular_name | C26E6.11 | ||||||||
| C26E6.11.1 | |||||||||
| CE39476 | |||||||||
| C26E6.11.2 | |||||||||
| Other_name | tag-339 | ||||||||
| C26E6.a | Curator_confirmed | WBPerson1983 | |||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_C26E6.11 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | mmab-1 | ||||||||
| 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 | 21 Jun 2005 09:45:25 | WBPerson2970 | Name_change | CGC_name | tag-339 | ||||
| 3 | 16 Jan 2006 17:59:10 | WBPerson2970 | Name_change | CGC_name | mmab-1 | ||||
| Other_name | tag-339 | ||||||||
| Status | Live | ||||||||
| Gene_info (8) | |||||||||
| Disease_info | Experimental_model | DOID:14749 | Homo sapiens | Paper_evidence | WBPaper00027754 | ||||
| Accession_evidence | OMIM | 251000 | |||||||
| 251100 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 29 May 2014 00:00:00 | ||||||||
| Potential_model | DOID:0060743 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:19331) | |||||
| DOID:655 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:19331) | ||||||
| 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 | |||||||||
| 607568 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 29 May 2014 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000285 | ||||||||
| Molecular_info | Corresponding_CDS | C26E6.11 | |||||||
| Corresponding_CDS_history | C26E6.11:wp152 | ||||||||
| Corresponding_transcript | C26E6.11.1 | ||||||||
| C26E6.11.2 | |||||||||
| Other_sequence (31) | |||||||||
| Associated_feature | WBsf651018 | ||||||||
| WBsf666834 | |||||||||
| WBsf666835 | |||||||||
| WBsf666836 | |||||||||
| WBsf666837 | |||||||||
| WBsf226609 | |||||||||
| WBsf226610 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00067760 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00076161 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00011212 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00002187 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00078225 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00005233 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00007907 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00041267 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1020305 | ||||||||
| Expr1036905 | |||||||||
| Expr1145309 | |||||||||
| Expr2013625 | |||||||||
| Expr2031859 | |||||||||
| Drives_construct | WBCnstr00028295 | ||||||||
| Construct_product | WBCnstr00028295 | ||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (96) | |||||||||
| Interaction | WBInteraction000007214 | ||||||||
| WBInteraction000173906 | |||||||||
| WBInteraction000552627 | |||||||||
| WBInteraction000553755 | |||||||||
| Map_info | Map | III | Position | -2.35895 | Error | 0.002868 | |||
| Positive | Positive_clone | C26E6 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00027754 | ||||||||
| WBPaper00038491 | |||||||||
| WBPaper00045654 | |||||||||
| WBPaper00049923 | |||||||||
| WBPaper00055090 | |||||||||
| 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 |
