| 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 | WBPaper00031040:TGF-beta_adult_downregulated |
| | | WBPaper00032031:DConiospora_upregulated_cDNA_24h |
| | | WBPaper00033065:cyc-1(RNAi)_downregulated |
| | | WBPaper00033065:isp-1-1(qm150)_upregulated |
| | | WBPaper00037950:all-neurons_L2-larva_expressed |
| | | WBPaper00037950:bodywall-muscle_L2-larva_expressed |
| | | WBPaper00037950:CEP-sheath-cells_Day1-adult_expressed |
| | | WBPaper00037950:coelomocytes_L2-larva_expressed |
| | | WBPaper00037950:dopaminergic-neurons_L3-L4-larva_expressed |
| | | WBPaper00037950:excretory-cell_L2-larva_expressed |
| | | WBPaper00037950:GABAergic-motor-neurons_L2-larva_expressed |
| | | WBPaper00037950:hypodermis_L3-L4-larva_expressed |
| | | WBPaper00037950:hypodermis_larva_enriched |
| | | WBPaper00037950:intestine_L1-larva_expressed |
| | | WBPaper00037950:intestine_L2-larva_expressed |
| | | WBPaper00037950:PVD-OLL-neurons_L3-L4-larva_expressed |
| | | WBPaper00040560:hpl-2_embryo_downregulated |
| | | WBPaper00044426:rotenone_24h_upregulated |
| | | WBPaper00044501:gld-1_let-7_regulated |
| | | WBPaper00044736:flat_dev_expression |
| | | WBPaper00045521:Gender_Neutral |
| | | WBPaper00045729:gld-2(RNAi)_downregulated |
| | | WBPaper00048988:neuron_expressed |
| | | WBPaper00049545:jmjd-3.1(+)_downregulated |
| | | WBPaper00050344:PLM-neuron_enriched |
| | | WBPaper00050488:20C_vs_25C_regulated_mir-34(OverExpression)_adult |
| | | WBPaper00050488:20C_vs_25C_regulated_N2_adult |
| | | WBPaper00050488:adult_vs_dauer_regulated_N2_20C |
| | | WBPaper00050488:mir-34(gk437)_vs_mir-34(OverExpression)_regulated_dauer_20C |
| | | WBPaper00050488:N2_vs_mir-34(gk437)_regulated_dauer_20C |
| | | WBPaper00050726:OsmoticStress_regulated_Food |
| | | WBPaper00050726:OsmoticStress_regulated_NoFood |
| | | WBPaper00050859:downregulated_P-granule(-)GFP(+)_vs_control_day2-adult |
| | | WBPaper00050990:GABAergic-neuron_expressed |
| | | WBPaper00050990:hypodermis_expressed |
| | | WBPaper00050990:intestine_expressed |
| | | WBPaper00050990:seam_expressed |
| | | WBPaper00053184:sma-2(rax5)_downregulated |
| | | WBPaper00053184:sma-4(rax3)_downregulated |
| | | WBPaper00053302:zidovudine_72h_regulated |
| | | WBPaper00053321:nos-1(gv5)nos-2(RNAi)_downregulated_L1_SMARTseq |
| | | WBPaper00053321:PGCs_enriched_NuGen |
| | | WBPaper00053388:dauer_regulated_Cluster5 |
| | | WBPaper00053810:daf-2(e1370)_downregulated |
| | | WBPaper00055648:germline_expressed |
| | | WBPaper00055862:antimycin_damt-1(gk961032)_regulated |
| | | WBPaper00056090:E.faecalis_downregulated_N2 |
| | | WBPaper00056161:male_enriched_siRNA |
| | | WBPaper00056471:S.aureus-4h_downregulated_N2 |
| | | WBPaper00057288:iff-1(RNAi)_downregulated_transcript |
| | | WBPaper00059328:mrps-5(RNAi)_upregulated_mRNA |
| | | WBPaper00059356:BAZ-2_SET-6_interacting |
| | | WBPaper00060014:set-2(tm1630)_upregulated |
| | | WBPaper00060100:SiNP_downregulated_mRNA |
| | | WBPaper00061340:RID_parent |
| | | WBPaper00061527:F31C3.4_6048-cutc-1_15804 |
| | | WBPaper00062325:muscle_enriched_coding-RNA |
| | | WBPaper00062345:bortezomib_4h_upregulated_N2 |
| | | WBPaper00062498:PPM-1.D_interacting |
| | | WBPaper00062554:MAGU-2_interacting |
| | | WBPaper00064071:NHR-49_interacting |
| | | WBPaper00064716:paraquat_upregulated |
| | | cgc4386_cluster_3_5 |
| | | cgc4489_group_4 |
| | | WBPaper00025032:cluster_8 |
| | | WBPaper00025141:N2_Expressed_Genes |
| | | WBPaper00025141:unc-4::GFP_Expressed_Genes |
| | | WBPaper00026929:Resveratrol_regulated_daf-16 |
| | | WBPaper00026929:sir-2.1_overexpression_regulated |
| | | WBPaper00026980:intestine_enriched |
| | | WBPaper00031003:24hr_muscle_enriched |
| | | WBPaper00031003:total_muscle_enriched |
| | | WBPaper00035084:embryo_enriched_AIN-2_IP |
| | | WBPaper00035905:FBF-1_Associated |
| | | WBPaper00036123:Fluoranthene_regulated |
| | | WBPaper00037147:heatshock_upregulated |
| | | WBPaper00040858:eQTL_age_regulated_developing |
| | | WBPaper00041606:CE_X.nematophila_regulated |
| | | WBPaper00041939:EtBr-exposed_vs_UVC-exposed_48h |
| | | WBPaper00041939:UVC-EtBr-exposed_vs_UVC-exposed_51h |
| | | WBPaper00045263:0.1mM-paraquat_upregulated |
| | | WBPaper00045263:isp-1(qm150)_upregulated |
| | | WBPaper00045263:nuo-6(qm200)_upregulated |
| | | WBPaper00045263:ProLongevity-mtROS_upregulated |
| | | WBPaper00045960:L1-L4-lethargus_downregulated |
| | | WBPaper00045960:L4-lethargus_downregulated |
| | | WBPaper00048989:eat-2(ad465)_rapamycin_upregulated |
| | | WBPaper00048989:N2_allantoin_upregulated |
| | | WBPaper00053236:Starvation_regulated_GR1307 |
| | | [cgc5767]:cluster_6 |
| | | [cgc5767]:expression_class_M |
| | | [cgc5767]:expression_class_MD |
| | | [cgc5767]:expression_class_MD_pd(23_min) |
| | | [cgc5767]:expression_class_SM |
| | | [cgc5767]:expression_class_SMD |
| | | [cgc6390]:mixed_oogenesis-somatic |
| | 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 |
