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 (3) | ||||||
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 |