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 (2) | |||||||||
| 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 |
