WormBase Tree Display for Gene: WBGene00004887
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| WBGene00004887 | SMap | S_parent | Sequence | C41G7 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 1 | |||||||
| Name | CGC_name | smn-1 | Person_evidence | WBPerson651 | |||||
| Sequence_name | C41G7.1 | ||||||||
| Molecular_name | C41G7.1a | ||||||||
| C41G7.1a.1 | |||||||||
| CE08665 | |||||||||
| C41G7.1b | |||||||||
| CE27843 | |||||||||
| C41G7.1a.2 | |||||||||
| C41G7.1b.1 | |||||||||
| Other_name | SMN | Accession_evidence | EMBL | AF156887 | |||||
| CELE_C41G7.1 | Accession_evidence | NDB | BX284601 | ||||||
| Public_name | smn-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 | smn | ||||||||
| Allele (16) | |||||||||
| Strain | WBStrain00024206 | ||||||||
| WBStrain00024207 | |||||||||
| WBStrain00008302 | |||||||||
| WBStrain00047286 | |||||||||
| Component_of_genotype (15) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (13) | |||||||||
| Ortholog (32) | |||||||||
| Paralog | WBGene00004891 | Caenorhabditis elegans | From_analysis | WormBase-Compara | |||||
| Structured_description | Concise_description | smn-1 encodes a homolog of human SMN, which when mutated leads to spinal muscular atrophy (OMIM:253300). | Paper_evidence | WBPaper00004103 | |||||
| Curator_confirmed | WBPerson567 | ||||||||
| Date_last_updated | 17 Jun 2004 00:00:00 | ||||||||
| Automated_description | Enables protein self-association. Involved in several processes, including determination of adult lifespan; pharyngeal pumping; and vulval development. Located in nucleus. Expressed in several structures, including body wall musculature; excretory cell; hypodermis; intestine; and vulval muscle. Used to study spinal muscular atrophy. Human ortholog(s) of this gene implicated in spinal muscular atrophy (multiple). Is an ortholog of human SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric). | 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 | WBPaper00032235 | ||||
| WBPaper00037843 | |||||||||
| WBPaper00060270 | |||||||||
| WBPaper00066343 | |||||||||
| Accession_evidence | OMIM | 253300 | |||||||
| 253400 | |||||||||
| 253550 | |||||||||
| 271150 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 31 Aug 2021 00:00:00 | ||||||||
| Potential_model | DOID:0050530 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11117) | |||||
| DOID:0050529 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11117) | ||||||
| DOID:12377 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11117) | ||||||
| DOID:12376 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11117,HGNC:11118) | ||||||
| DOID:13137 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:11117) | ||||||
| Disease_relevance | Mutations in the human genes SMN1 and SMN2, which encode a RNA-binding protein, SMN, cause spinal muscular atrophy (SMA); SMA 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; SMN is also found tightly associated with SIP1/Gemin2 to form a complex with several spliceosomal snRNP proteins; in C. elegans, RNAi knockdown of smn-1 leads to developmental defects in neuronal, muscular and reproductive tissue leading to locomotive defects, lack of muscle tone, vulval abnormalities, pharyngeal pumping defects, and sterility due to defective germ cell maturation; in the deletion mutant smn-1(ok355), phenotypes could be partially rescued by neuronal, but not muscle-directed expression of smn-1; further, RNAi knock-down of mib-1, the elegans ortholog of human MIB1, an E3 ubiquitin ligase, significantly ameliorated smn-1 neuromuscular defects suggesting that Mib1 is a conserved cross-species modifier of SMN; the elegans smn-1(cb131) mutant, encoding a substitution in a highly conserved residue of exon 2, which resembles a point mutation found in type IIIb SMA, displays milder yet similar defects when compared with the smn-1 null mutant; an automated phenotyping system, that uses these smn-1(cb131) mutants that swim slower than wild-type animals, was used to screen a library of chemical compounds for drugs that ameliorate the defect; this study highlighted six for subsequent testing: aklavin hydrochloride, 4-aminopyridine (4-AP), gaboxadol hydrochloride, metaraminol bitartrate, N-acetylneuraminic acid (Neu5Ac) and zidovudine, all of which rescued at least one aspect of smn-1 phenotypic dysfunction; such studies may assist in accelerating the development of drugs for the treatment of SMA. | Homo sapiens | Paper_evidence | WBPaper00032235 | |||||
| WBPaper00037701 | |||||||||
| WBPaper00042324 | |||||||||
| Accession_evidence | OMIM | 253300 | |||||||
| 253550 | |||||||||
| 253400 | |||||||||
| 271150 | |||||||||
| 600354 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 06 May 2014 00:00:00 | ||||||||
| Models_disease_asserted (17) | |||||||||
| Molecular_info | Corresponding_CDS | C41G7.1a | |||||||
| C41G7.1b | |||||||||
| Corresponding_transcript | C41G7.1a.1 | ||||||||
| C41G7.1a.2 | |||||||||
| C41G7.1b.1 | |||||||||
| Other_sequence (49) | |||||||||
| Associated_feature | WBsf649480 | ||||||||
| WBsf220093 | |||||||||
| WBsf220094 | |||||||||
| Experimental_info | RNAi_result (22) | ||||||||
| Expr_pattern | Expr1229 | ||||||||
| Expr1230 | |||||||||
| Expr1231 | |||||||||
| Expr12328 | |||||||||
| Expr13407 | |||||||||
| Expr1018011 | |||||||||
| Expr1032426 | |||||||||
| Expr1146303 | |||||||||
| Expr2015920 | |||||||||
| Expr2034153 | |||||||||
| Drives_construct | WBCnstr00010166 | ||||||||
| WBCnstr00023121 | |||||||||
| WBCnstr00035340 | |||||||||
| Construct_product | WBCnstr00010166 | ||||||||
| WBCnstr00020789 | |||||||||
| WBCnstr00022986 | |||||||||
| WBCnstr00023121 | |||||||||
| WBCnstr00035340 | |||||||||
| WBCnstr00039444 | |||||||||
| Regulate_expr_cluster | WBPaper00056809:smn-1(ok355)_downregulated | ||||||||
| WBPaper00056809:smn-1(ok355)_upregulated | |||||||||
| Microarray_results (23) | |||||||||
| Expression_cluster (109) | |||||||||
| Interaction (93) | |||||||||
| WBProcess | WBbiopr:00000001 | ||||||||
| Map_info | Map | I | Position | 3.78179 | Error | 0.001059 | |||
| Positive | Positive_clone | C41G7 | Inferred_automatically | From CDS info | |||||
| From sequence, transcript, pseudogene data | |||||||||
| Mapping_data | Multi_point | 4667 | |||||||
| 4707 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (69) | |||||||||
| 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 |
