WormBase Tree Display for Gene: WBGene00014202
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| WBGene00014202 | SMap | S_parent | Sequence | ZK1058 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | mmcm-1 | Person_evidence | WBPerson4388 | |||||
| WBPerson4387 | |||||||||
| Sequence_name | ZK1058.1 | ||||||||
| Molecular_name | ZK1058.1 | ||||||||
| ZK1058.1.1 | |||||||||
| CE30404 | |||||||||
| Other_name | CELE_ZK1058.1 | Accession_evidence | NDB | BX284603 | |||||
| Public_name | mmcm-1 | ||||||||
| DB_info | Database (13) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:55 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| 2 | 16 Jan 2006 17:57:11 | WBPerson2970 | Name_change | CGC_name | mmcm-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mmcm | ||||||||
| Allele (60) | |||||||||
| Strain | WBStrain00032132 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (23) | |||||||||
| Contained_in_operon | CEOP3864 | ||||||||
| Ortholog (36) | |||||||||
| Paralog | WBGene00020169 | Caenorhabditis elegans | From_analysis | WormBase-Compara | |||||
| Structured_description | Concise_description | mmcm-1 encodes an ortholog of human methylmalonyl-CoA mutase (MUT); MMCM-1 enzyme, in vitro, kinetically resembles its human ortholog; mmcm-1 deletion mutants incorporate abnormally low levels of 1-[(14)C]-propionate into proteins; mmcm-1(RNAi) and mmcm-1 deletion mutant animals excrete abnormally high levels of methylmalonic acid into their culture medium when challenged with propionic acid; mmcm-1, in a lentiviral transgene, can partially rescue the mutant phenotype of human mut(o) fibroblasts; these data are consistent with the hypothesis that MMCM-1 participates in the conversion of propionyl-CoA to succinyl-CoA. | Paper_evidence | WBPaper00004588 | |||||
| WBPaper00004637 | |||||||||
| WBPaper00027754 | |||||||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 02 Oct 2006 00:00:00 | ||||||||
| Automated_description | Enables methylmalonyl-CoA mutase activity. Involved in amino acid metabolic process and fatty acid metabolic process. Located in mitochondrion. Used to study methylmalonic acidemia. Human ortholog(s) of this gene implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Is an ortholog of human MMUT (methylmalonyl-CoA mutase). | 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 | ||||||||
| Potential_model | DOID:0060740 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:7526) | |||||
| 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 | |||||||||
| 609058 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 29 May 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000284 | ||||||||
| Molecular_info | Corresponding_CDS | ZK1058.1 | |||||||
| Corresponding_transcript | ZK1058.1.1 | ||||||||
| Other_sequence (134) | |||||||||
| Associated_feature | WBsf666451 | ||||||||
| WBsf666715 | |||||||||
| WBsf666716 | |||||||||
| WBsf226427 | |||||||||
| WBsf226428 | |||||||||
| WBsf226429 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00059082 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00078223 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00006035 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00038132 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00007126 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00059081 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00106988 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1017573 | ||||||||
| Expr1036359 | |||||||||
| Expr1162512 | |||||||||
| Expr2013626 | |||||||||
| Expr2031860 | |||||||||
| Drives_construct | WBCnstr00029229 | ||||||||
| Construct_product | WBCnstr00029229 | ||||||||
| Microarray_results (20) | |||||||||
| Expression_cluster (134) | |||||||||
| Interaction (30) | |||||||||
| Map_info | Map | III | Position | -4.23496 | |||||
| Positive | Positive_clone | ZK1058 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 5662 | |||||||
| 4791 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (15) | |||||||||
| 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 |
