WormBase Tree Display for Gene: WBGene00004886
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| WBGene00004886 | SMap | S_parent | Sequence | Y39A3CR | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | smi-1 | Person_evidence | WBPerson1430 | |||||
| Sequence_name | Y39A3CR.1 | ||||||||
| Molecular_name (12) | |||||||||
| Other_name | CELE_Y39A3CR.1 | Accession_evidence | NDB | BX284603 | |||||
| Public_name | smi-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:36 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | smi | ||||||||
| Allele (94) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (17) | |||||||||
| Contained_in_operon | CEOP3072 | ||||||||
| Ortholog (31) | |||||||||
| Structured_description | Concise_description | smi-1 encodes the C. elegans ortholog of human Gemin2, a novel protein that interacts with the product of the survival motor neuron (SMN) gene, mutations in which are associated with spinal muscular atrophy; in C. elegans, smi-1 is an essential gene required for embryonic development past the mid-proliferation stage; in vitro, SMI-1 physically interacts with C. elegans SMN-1, indicating that the interaction between these two proteins is conserved; SMI-1 is expressed throughout development in multiple tissue types including the gut, neurons, and body wall muscles; SMI-1 localizes primarily to nuclei, with some protein also detected in the cytoplasm and in some neuronal processes. | Paper_evidence | WBPaper00028478 | |||||
| Curator_confirmed | WBPerson1843 | ||||||||
| Date_last_updated | 13 Feb 2007 00:00:00 | ||||||||
| Automated_description | Involved in embryo development. Located in cytoplasm. Expressed in body wall musculature; intestine; and ventral cord neurons. Used to study spinal muscular atrophy. Is an ortholog of human GEMIN2 (gem nuclear organelle associated protein 2). | 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:12377 | Homo sapiens | Paper_evidence | WBPaper00028478 | ||||
| Accession_evidence | OMIM | 253300 | |||||||
| 253400 | |||||||||
| 253550 | |||||||||
| 271150 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 28 Oct 2013 00:00:00 | ||||||||
| Disease_relevance | Mutations in the human genes SMN1 and SMN2, which encode a RNA-binding protein, SMN, cause the inherited neuromuscular disorder, spinal muscular atrophy; this affects the control of muscle movement due to a loss of motor neurons in the spinal cord and the brainstem, leading to weakness and wasting (atrophy) of muscles; deletion of C. elegans smn-1/SMN, leads to several muscular defects (locomotive and pharyngeal pumping), and reduced lifespan; C. elegans has shown to be an effective genetic model to study SMN loss of functions defects; in mammals, SMN is tightly associated with SIP1/Gemin2; in C. elegans, the SMN and SIP orthologs, SMN-1 and SMI-1, interact and SMI-1 expression pattern and RNA interference phenotype show considerable overlap with those of smn-1; further, a yeast two-hybrid screen has identified several elegans smn-1 interacting proteins: F08F8.9c, K05C4.5, K07F5.1 (sequence similarity to proteins involved in RNA processing), F56D12.5a, RAN-2, ZK1320.7 (contain domains involved in RNA processing/metabolism, such as RNA-binding domains) and LET-418, MOG-4 (DEAD box helicase domains). | Homo sapiens | Paper_evidence | WBPaper00028478 | |||||
| Accession_evidence | OMIM | 253300 | |||||||
| 253550 | |||||||||
| 253400 | |||||||||
| 271150 | |||||||||
| 600354 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 28 Oct 2013 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000243 | ||||||||
| Molecular_info | Corresponding_CDS | Y39A3CR.1a | |||||||
| Y39A3CR.1b | |||||||||
| Y39A3CR.1c | |||||||||
| Y39A3CR.1d | |||||||||
| Corresponding_CDS_history | Y39A3CR.1:wp91 | ||||||||
| Y39A3CR.1b:wp278 | |||||||||
| Corresponding_transcript | Y39A3CR.1a.1 | ||||||||
| Y39A3CR.1b.1 | |||||||||
| Y39A3CR.1c.1 | |||||||||
| Y39A3CR.1d.1 | |||||||||
| Other_sequence | MHC03264_1 | ||||||||
| CBC04805_1 | |||||||||
| MH01708 | |||||||||
| Associated_feature | WBsf991410 | ||||||||
| WBsf1014321 | |||||||||
| WBsf224477 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00103032 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00103033 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00020360 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr4282 | ||||||||
| Expr1027897 | |||||||||
| Expr1032425 | |||||||||
| Expr1159661 | |||||||||
| Expr2015918 | |||||||||
| Expr2034151 | |||||||||
| Drives_construct | WBCnstr00011881 | ||||||||
| Construct_product | WBCnstr00011881 | ||||||||
| Microarray_results (23) | |||||||||
| Expression_cluster (56) | |||||||||
| Interaction (23) | |||||||||
| Map_info | Map | III | Position | -15.8236 | Error | 0.017184 | |||
| Positive | Positive_clone | Y39A3CR | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00028478 | ||||||||
| WBPaper00038491 | |||||||||
| 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 |
