| WBGene00008415 | SMap | S_parent | Sequence | D2030 |
|---|
| Identity | Version | 2 |
| | Name (5) |
| | DB_info | Database (11) |
| | Species | Caenorhabditis elegans |
| | History | Version_change | 1 | 26 May 2004 16:54:49 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 |
| | | | 2 | 09 Jun 2005 10:01:00 | WBPerson2970 | Name_change | CGC_name | mce-1 |
| | Status | Live |
| Gene_info | Biotype | SO:0001217 |
| | Gene_class | mce |
| | Allele (18) |
| | Strain | WBStrain00033923 |
| | | WBStrain00031343 |
| | | WBStrain00055595 |
| | RNASeq_FPKM (74) |
| | GO_annotation | 00016080 |
| | | 00016081 |
| | | 00016082 |
| | Ortholog (33) |
| | Structured_description | Automated_description | Predicted to enable methylmalonyl-CoA epimerase activity. Predicted to be involved in L-methylmalonyl-CoA metabolic process. Located in mitochondrion. Expressed in body wall musculature; hypodermis; intestine; and pharynx. Used to study methylmalonic acidemia. Is an ortholog of human MCEE (methylmalonyl-CoA epimerase). | 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 |
| | 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 |
| | | | | | | 608419 |
| | | | | Curator_confirmed | WBPerson324 |
| | | | | Date_last_updated | 29 May 2014 00:00:00 |
| Models_disease_asserted | WBDOannot00000162 |
| Molecular_info | Corresponding_CDS | D2030.5 |
| | Corresponding_transcript | D2030.5.1 |
| | Other_sequence (97) |
| | Associated_feature | WBsf643466 |
| | | WBsf218034 |
| | | WBsf218035 |
| | | WBsf218036 |
| | | WBsf218037 |
| Experimental_info | RNAi_result | WBRNAi00116911 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00043475 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00030402 | Inferred_automatically | RNAi_primary |
| | | WBRNAi00003286 | Inferred_automatically | RNAi_primary |
| | Expr_pattern | Chronogram264 |
| | | Expr3793 |
| | | Expr8626 |
| | | Expr8627 |
| | | Expr9517 |
| | | Expr1011053 |
| | | Expr1033651 |
| | | Expr1147468 |
| | | Expr2013447 |
| | | Expr2031681 |
| | Drives_construct | WBCnstr00001074 |
| | | WBCnstr00011664 |
| | | WBCnstr00013405 |
| | | WBCnstr00013406 |
| | | WBCnstr00032981 |
| | Construct_product | WBCnstr00013405 |
| | | WBCnstr00013406 |
| | | WBCnstr00014082 |
| | | WBCnstr00032981 |
| | Microarray_results (25) |
| | Expression_cluster | WBPaper00028451:Low_abundance_spermatogenesis_enriched |
| | | WBPaper00029359_1166 |
| | | WBPaper00029359_1197 |
| | | WBPaper00029359_1291 |
| | | WBPaper00029359_1320 |
| | | WBPaper00029359_1326 |
| | | WBPaper00029359_1345 |
| | | WBPaper00029359_1439 |
| | | WBPaper00029359_1458 |
| | | WBPaper00029359_1519 |
| | | WBPaper00029359_1546 |
| | | WBPaper00029359_1549 |
| | | WBPaper00029359_1557 |
| | | WBPaper00029359_1599 |
| | | WBPaper00029359_1618 |
| | | WBPaper00031040:TGF-beta_adult_upregulated |
| | | WBPaper00032528:L3_enriched |
| | | WBPaper00037950:all-neurons_L2-larva_expressed |
| | | WBPaper00037950:AVE-neuron_L1-larva_expressed |
| | | WBPaper00037950:bodywall-muscle_L1-larva_expressed |
| | | WBPaper00037950:bodywall-muscle_L2-larva_expressed |
| | | WBPaper00037950:bodywall-muscle_larva_enriched |
| | | WBPaper00037950:bodywall-muscle_larva_SelectivelyEnriched |
| | | WBPaper00037950:CEP-sheath-cells_Day1-adult_expressed |
| | | WBPaper00037950:coelomocytes_L1-larva_expressed |
| | | WBPaper00037950:dopaminergic-neurons_L3-L4-larva_expressed |
| | | WBPaper00037950:hypodermis_L3-L4-larva_expressed |
| | | WBPaper00037950:hypodermis_larva_enriched |
| | | WBPaper00037950:hypodermis_larva_SelectivelyEnriched |
| | | WBPaper00037950:intestine_L2-larva_expressed |
| | | WBPaper00037950:PVD-OLL-neurons_L3-L4-larva_expressed |
| | | WBPaper00037950:PVD-OLL-neurons_larva_enriched |
| | | WBPaper00037950:PVD-OLL-neurons_larva_SelectivelyEnriched |
| | | WBPaper00038357:atx-3_regulated_heat-shock |
| | | WBPaper00040134:nhr-49(RNAi)_regulated_protein |
| | | WBPaper00040560:hpl-2_embryo_upregulated |
| | | WBPaper00044128:daf-2(e1370)_upregulated |
| | | WBPaper00044736:flat_dev_expression |
| | | WBPaper00044746:aging_upregulated_HeatShock |
| | | WBPaper00045314:S.aureus-induced_hlh-30(tm1978) |
| | | WBPaper00045314:S.aureus-induced_N2 |
| | | WBPaper00045521:Gender_Neutral |
| | | WBPaper00045571:germline-ablation_upregulated |
| | | WBPaper00045774:clk-1_upregulated |
| | | WBPaper00046012:tdp-1(ok803)_upregulated |
| | | WBPaper00046497:B.thuringiensis_0.1mix_downregulated_6h |
| | | WBPaper00046497:B.thuringiensis_0.1mix_downregulated_12h |
| | | WBPaper00046497:B.thuringiensis_0.5mix_downregulated_12h |
| | | WBPaper00048923:Aging_regulated |
| | | WBPaper00048971:daf-16(mgDf50)_downregulated_L1 |
| | | WBPaper00048988:neuron_expressed |
| | | WBPaper00049083:post-dauer-development_upregulated |
| | | WBPaper00049217:DAF-16_upregulated |
| | | WBPaper00049325:CB4856_vs_N2_DEG |
| | | WBPaper00049545:rgef-1p-jmjd-1.2(+)_upregulated |
| | | WBPaper00050344:AFD-neuron_enriched |
| | | WBPaper00050344:ASER-neuron_enriched |
| | | WBPaper00050488:adult_vs_dauer_regulated_N2_20C |
| | | WBPaper00050488:mir-34(gk437)_vs_mir-34(OverExpression)_regulated_dauer_20C |
| | | WBPaper00050488:N2_vs_mir-34(OverExpression)_regulated_dauer_20C |
| | | WBPaper00050726:starvation_regulated_LowSalt |
| | | WBPaper00050990:arcade_intestinal-valve_expressed |
| | | WBPaper00050990:GABAergic-neuron_expressed |
| | | WBPaper00050990:hypodermis_expressed |
| | | WBPaper00050990:intestine_expressed |
| | | WBPaper00050990:seam_expressed |
| | | WBPaper00051039:germline_enriched |
| | | WBPaper00051245:epidermis_cytoplasm_expressed |
| | | WBPaper00051558:aging_regulated |
| | | WBPaper00052884:emb-4(hc60)_upregulated |
| | | WBPaper00053184:sma-2(rax5)_downregulated |
| | | WBPaper00053184:sma-4(rax3)_downregulated |
| | | WBPaper00053321:nos-1(gv5)nos-2(RNAi)_upregulated_starved-L1_Truseq |
| | | WBPaper00053388:dauer_regulated_Cluster5 |
| | | WBPaper00053599:mitosis_vs_meiosis_downregulated |
| | | WBPaper00053599:oocyte_vs_mitosis_downregulated |
| | | WBPaper00053615:SMO-1_target |
| | | WBPaper00053810:clk-1(qm30)_upregulated |
| | | WBPaper00053810:daf-2(e1370)_upregulated |
| | | WBPaper00053810:isp-1(qm150)_upregulated |
| | | WBPaper00053810:nuo-6(qm200)_upregulated |
| | | WBPaper00055049:S.gordonii_upregulated |
| | | WBPaper00055354:Psora-Allantoin_downregulated |
| | | WBPaper00055354:Rapamycin-Allantoin_downregulated |
| | | WBPaper00055354:Rapamycin-Metformin_downregulated |
| | | WBPaper00055354:Rifampicin-Allantoin_downregulated |
| | | WBPaper00055482:pmt-2(RNAi)_downregulated |
| | | WBPaper00055862:antimycin_damt-1(gk961032)_regulated |
| | | WBPaper00056090:E.faecalis_upregulated_hpx-2(dg047) |
| | | WBPaper00056290:hsp-6(mg585)_upregulated |
| | | WBPaper00056443:sek-1(km4)_downregulated |
| | | WBPaper00056471:aak-1(tm1944);aak-2(ok524)_upregulated |
| | | WBPaper00056471:S.aureus-4h_upregulated_N2 |
| | | WBPaper00056501:P.aeruginosa_upregulated_mitochondria-protein |
| | | WBPaper00057041:spc-1(cas971)_downregulated |
| | | WBPaper00057288:Cold_downregulated_transcript |
| | | WBPaper00058598:sin-3(tm1276)_downregulated |
| | | WBPaper00059253:sucrose_stearic-acid_upregulated |
| | | WBPaper00059253:sucrose_upregulated |
| | | WBPaper00059356:BAZ-2_SET-6_interacting |
| | | WBPaper00059609:malt-1_ilc-17.1_nfki-1_downregulated |
| | | WBPaper00060100:SiNP_downregulated_mRNA |
| | | WBPaper00060273:isp-1(qm150)_upregulated |
| | | WBPaper00061203:sin-3(tm1276)_upregulated |
| | | WBPaper00061203:spr-1(ok2144)_upregulated |
| | | WBPaper00061274:hypergravity_15xg_upregulated |
| | | WBPaper00061377:MYRF-1_interacting |
| | | WBPaper00061527:tars-1-AFFX-r2-3026-5_at |
| | | WBPaper00061530:nhr-49(e2144)_downregulated |
| | | WBPaper00061699:daf-18(ok480)_downregulated |
| | | WBPaper00061753:csr-1(tor159)_upregulated_25C |
| | | WBPaper00061902:camt-1(ok515)_regulated_RMG |
| | | WBPaper00062159:hda-2(ok1479)_upregulated |
| | | WBPaper00062293:clk-1(qm30)_upregulated |
| | | WBPaper00062293:isp-1(qm150)_upregulated |
| | | WBPaper00062325:muscle_enriched_coding-RNA |
| | | WBPaper00064055:trl-1(cas1077)_downregulated_non-starved |
| | | WBPaper00064055:trl-1(cas1077)_downregulated_starved |
| | | WBPaper00064071:NHR-49_interacting |
| | | WBPaper00064088:Day-1-adult_vs_L4_upregulated_glp-1(e2141) |
| | | WBPaper00064088:Day-3-adult_vs_L4_upregulated_glp-1(e2141) |
| | | WBPaper00064229:B.thuringiensis-Cry5Ba_upregulated |
| | | WBPaper00064716:paraquat_downregulated |
| | | WBPaper00064727:daf-2(e1370)_upregulated |
| | | WBPaper00065835:Day11_vs_Day1_downregulated |
| | | WBPaper00065945:epidermis-rpoa-2(-)_upregulated_protein |
| | | WBPaper00065993:glp-1(e2141)_upregulated |
| | | cgc4386_cluster_3_5 |
| | | WBPaper00025032:cluster_34 |
| | | WBPaper00025141:N2_Expressed_Genes |
| | | WBPaper00026929:sir-2.1_overexpression_regulated |
| | | WBPaper00026980:intestine_enriched |
| | | WBPaper00031003:0hr_muscle_enriched |
| | | WBPaper00031003:24hr_muscle_enriched |
| | | WBPaper00031003:hlh_1_enriched |
| | | WBPaper00031003:total_muscle_enriched |
| | | WBPaper00034739:N2moreDR1350 |
| | | WBPaper00035905:FBF-1_Associated |
| | | WBPaper00036286:Pattern_I |
| | | WBPaper00037611:RNP-8-associated |
| | | WBPaper00038427:lin-54_germline_changed |
| | | WBPaper00040184:hcf-1up_sir-2.1up_daf-2up |
| | | WBPaper00040603:tdp-1(lf)_down_vs_N2_FC_1.2 |
| | | WBPaper00040876:mir-35_downregulated |
| | | WBPaper00041606:CE_X.nematophila_regulated |
| | | WBPaper00041939:control_vs_UVC-EtBr-exposed_51h |
| | | WBPaper00041939:UVC-EtBr-exposed_vs_UVC-exposed_51h |
| | | WBPaper00042234:xpa-1_upregulated |
| | | WBPaper00044091:Bpseudomallei_repressed_12h |
| | | WBPaper00045263:nuo-6(qm200)_upregulated |
| | | WBPaper00053236:daf-16(mgDF50)_regulated_Starved |
| | | WBPaper00053236:Starvation_regulated_N2 |
| | | [cgc5767]:cluster_44 |
| | | [cgc5767]:expression_class_E |
| | | [cgc5767]:expression_class_E_pi(101_min) |
| | | [cgc5767]:expression_class_M |
| | | [cgc5767]:expression_class_MD |
| | | [cgc5767]:expression_class_MDE |
| | | [cgc5767]:expression_class_MD_pd(41_min) |
| | | [cgc5767]:expression_class_ME |
| | Interaction (11) |
| Map_info | Map | I | Position | 2.17144 | Error | 0.00938 |
| | Positive | Positive_clone | D2030 | Inferred_automatically | From sequence, transcript, pseudogene data |
| | Mapping_data | Multi_point | 5298 |
| | | | 4887 |
| | Pseudo_map_position |
| Reference (13) |
| 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 |
