WormBase Tree Display for Gene: WBGene00000941
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| WBGene00000941 | Evidence | Accession_evidence | EMBL | AF150086 | |||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | Y39A3CR | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | ddp-1 | Paper_evidence | WBPaper00024877 | |||||
| Person_evidence | WBPerson2173 | ||||||||
| Sequence_name | Y39A3CR.4 | ||||||||
| Molecular_name | Y39A3CR.4 | ||||||||
| Y39A3CR.4.1 | |||||||||
| CE21655 | |||||||||
| Other_name | tim-8 | ||||||||
| tin-8 | CGC_data_submission | ||||||||
| CELE_Y39A3CR.4 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | ddp-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:22 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | ddp | ||||||||
| Allele | WBVar01500082 | ||||||||
| WBVar00390789 | |||||||||
| WBVar00021971 | |||||||||
| WBVar01498832 | |||||||||
| WBVar02154151 | |||||||||
| WBVar00560902 | |||||||||
| Strain | WBStrain00049331 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00094135 | ||||||||
| 00094136 | |||||||||
| 00094137 | |||||||||
| 00094138 | |||||||||
| 00094139 | |||||||||
| 00094140 | |||||||||
| 00094141 | |||||||||
| 00094142 | |||||||||
| Contained_in_operon | CEOP3072 | ||||||||
| Ortholog (39) | |||||||||
| Paralog | WBGene00006574 | Caenorhabditis elegans | From_analysis | Panther | |||||
| Structured_description | Concise_description | ddp-1 encodes the C. elegans ortholog of Saccharomyces cerevisiae Tim8p and human TIMM8A or deafness/dystonia peptide; DDP-1 is predicted to be part of a heterooligomeric complex that localizes to the mitochondrial intermembrane space and facilitates translocation of proteins from the cytosol to the inner mitochondrial membrane; in C. elegans, DDP-1 is required for normal mitochondrial morphology. | Paper_evidence | WBPaper00004103 | |||||
| WBPaper00012754 | |||||||||
| WBPaper00024877 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 20 Jul 2011 00:00:00 | ||||||||
| Automated_description | Predicted to enable metal ion binding activity. Involved in mitochondrion organization. Predicted to be located in mitochondrial inner membrane. Used to study deafness-dystonia-optic neuronopathy syndrome. Human ortholog(s) of this gene implicated in deafness-dystonia-optic neuronopathy syndrome and dystonia. Is an ortholog of human TIMM8A (translocase of inner mitochondrial membrane 8A). | 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:0050757 | Homo sapiens | Paper_evidence | WBPaper00024877 | ||||
| Accession_evidence | OMIM | 311150 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 03 May 2013 00:00:00 | ||||||||
| Potential_model | DOID:0050757 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11817) | |||||
| DOID:543 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11817) | ||||||
| Disease_relevance | Human TIMM8A (also known as deafness/dystonia peptide 1; DDP1) is a conserved protein that is organized in a heterooligomeric complex in the mitochondrial intermembrane space and mediates the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane; mutations in TIMM8A are implicated in Deafness dystonia syndrome (also called Mohr-Tranebjaerg syndrome) and Jensen syndrome; these syndromes are characterized by hearing loss caused by nerve damage, involuntary tensing of the muscles (dystonia), difficulty coordinating movements (ataxia), vision problems, and may also include behavior problems and dementia; C. elegans encodes several orthologs of the inner mitochondrial transport family-ddp-1 (Tim8 family), tin-9.1 (Tim8 family), tin-9.1 and tin-9.2 (Tim9 family), and tomm-7 (Tom7 family); knock-down of tin-9.1, tin-9.2, and tin-10 via RNA interference (RNAi) resulted in a small body size (the Sma phenotype), reduced brood size, and partial embryonic lethality; tin-9.1 and tin-10 RNAi animals are defective in inner mitochondrial membrane protein import; tin-9.2 (RNAi) animals also had cell migration defects; tomm-7(RNAi) and ddp-1(RNAi) animals displayed defects in mitochondrial morphology; thus, all of these C. elegans mutants mimick aspects of human mitochondrial diseases. | Homo sapiens | Paper_evidence | WBPaper00024877 | |||||
| Accession_evidence | OMIM | 304700 | |||||||
| 311150 | |||||||||
| 300356 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 23 May 2014 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000168 | ||||||||
| Molecular_info | Corresponding_CDS | Y39A3CR.4 | |||||||
| Corresponding_transcript | Y39A3CR.4.1 | ||||||||
| Other_sequence (65) | |||||||||
| Associated_feature | WBsf644965 | ||||||||
| WBsf644966 | |||||||||
| WBsf224475 | |||||||||
| WBsf224476 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00062817 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00036904 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00062429 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00020366 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00056154 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00062430 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1028248 | ||||||||
| Expr1030588 | |||||||||
| Expr1159663 | |||||||||
| Expr2010831 | |||||||||
| Expr2029069 | |||||||||
| Microarray_results (21) | |||||||||
| Expression_cluster (126) | |||||||||
| Interaction | WBInteraction000114208 | ||||||||
| WBInteraction000137253 | |||||||||
| WBInteraction000559587 | |||||||||
| WBInteraction000568991 | |||||||||
| Map_info | Map | III | Position | -15.8652 | Error | 0.018842 | |||
| Positive | Positive_clone | Y39A3CR | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00024877 | ||||||||
| WBPaper00026571 | |||||||||
| WBPaper00036249 | |||||||||
| WBPaper00038491 | |||||||||
| WBPaper00055090 | |||||||||
| Remark | Sequence connection from [Bauer MF, Hofmann S] | ||||||||
| 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 |
