WormBase Tree Display for Gene: WBGene00006444
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| WBGene00006444 | SMap | S_parent | Sequence | C33B4 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | shn-1 | Paper_evidence | WBPaper00006456 | |||||
| Person_evidence | WBPerson746 | ||||||||
| Sequence_name | C33B4.3 | ||||||||
| Molecular_name | C33B4.3a | ||||||||
| C33B4.3a.1 | |||||||||
| CE01508 | |||||||||
| C33B4.3b | |||||||||
| CE36107 | |||||||||
| C33B4.3c | |||||||||
| CE43434 | |||||||||
| C33B4.3b.1 | |||||||||
| C33B4.3c.1 | |||||||||
| Other_name | tag-67 | Person_evidence | WBPerson201 | ||||||
| CELE_C33B4.3 | Accession_evidence | NDB | BX284602 | ||||||
| Public_name | shn-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:40 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| 2 | 03 Jan 2007 09:53:58 | WBPerson1847 | Name_change | CGC_name | shn-1 | ||||
| Other_name | tag-67 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | shn | ||||||||
| Allele (94) | |||||||||
| Strain | WBStrain00031897 | ||||||||
| WBStrain00035718 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (13) | |||||||||
| Ortholog (43) | |||||||||
| Structured_description | Concise_description | shn-1 encodes the sole elegans SHANK protein and orthlog of vertebrate SHANK3 (SH3 and multiple ankyrin repeat domains 3); shn-1 is required for the regulation of calcium-related behaviors like defecation, pharyngeal pumping and male fertility via the inositol triphosphate receptor, itr-1, and this activity is dependent on the shn-1 ANK-repeat domain; shn-1 is expressed in neurons, pharynx and the intestine. | Paper_evidence | WBPaper00006456 | |||||
| WBPaper00026687 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 16 Apr 2012 00:00:00 | ||||||||
| Automated_description | Predicted to enable ionotropic glutamate receptor binding activity and synaptic receptor adaptor activity. Involved in defecation and rhythmic behavior. Predicted to be located in dendritic spine; postsynaptic density; and postsynaptic membrane. Expressed in several structures, including amphid neurons; egg-laying apparatus; pharyngeal-intestinal valve; somatic nervous system; and sperm. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome; autistic disorder; and schizophrenia 15. Is an ortholog of human SHANK1 (SH3 and multiple ankyrin repeat domains 1). | 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:0060041 | Homo sapiens | Paper_evidence | WBPaper00040403 | ||||
| Accession_evidence | OMIM | 300425 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 14 Feb 2013 00:00:00 | ||||||||
| Potential_model | DOID:0080354 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:14294) | |||||
| DOID:0070091 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:14294) | ||||||
| DOID:12849 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:14295) | ||||||
| Disease_relevance | SHANK proteins are scaffolding proteins required for the proper formation and functioning of neuronal synapses; SHANK proteins interact with various other proteins like G-protein coupled receptors, cell adhesion molecules like neuroligins, ion channels, and transport proteins; SHANK proteins have ANK (ankyrin) repeats, a SH3 domain, a PDZ domain, and a SAM domain; mutations in human SHANK proteins have been found in autism spectrum disorders (ASDs); SHANK3 (orthologous to elegans shn-1) mutations are found in Phelan-McDermid syndrome and Schizophrenia; the Phelan-McDermid deletion syndrome has phenotypes that include developmental delay, speech absence/delay, mental retardation and autistic behavior; studies in elegans have shown that shn-1/SHANK is required, via the inositol phosphate-3 (IP3) receptor, for calcium-dependent rhythmic behaviors, and this activity is dependent on the ANK domain. | Homo sapiens | Paper_evidence | WBPaper00040403 | |||||
| Accession_evidence | OMIM | 606232 | |||||||
| 613950 | |||||||||
| 606230 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 17 Apr 2012 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000058 | ||||||||
| Molecular_info | Corresponding_CDS | C33B4.3a | |||||||
| C33B4.3b | |||||||||
| C33B4.3c | |||||||||
| Corresponding_transcript | C33B4.3a.1 | ||||||||
| C33B4.3b.1 | |||||||||
| C33B4.3c.1 | |||||||||
| Other_sequence (15) | |||||||||
| Associated_feature (27) | |||||||||
| Experimental_info | RNAi_result | WBRNAi00041736 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00086036 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00082843 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00011515 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00082844 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00086037 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00029454 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr10766 | ||||||||
| Expr11113 | |||||||||
| Expr15250 | |||||||||
| Expr1024888 | |||||||||
| Expr1032622 | |||||||||
| Expr1145754 | |||||||||
| Expr2015810 | |||||||||
| Expr2034043 | |||||||||
| Drives_construct | WBCnstr00017721 | ||||||||
| WBCnstr00018509 | |||||||||
| WBCnstr00019737 | |||||||||
| WBCnstr00034355 | |||||||||
| Construct_product | WBCnstr00018509 | ||||||||
| WBCnstr00019737 | |||||||||
| WBCnstr00021849 | |||||||||
| WBCnstr00034355 | |||||||||
| Microarray_results (26) | |||||||||
| Expression_cluster (166) | |||||||||
| Interaction (33) | |||||||||
| Map_info | Map | II | Position | 3.46486 | Error | 0.001636 | |||
| Positive | Positive_clone | C33B4 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 4647 | |||||||
| Pseudo_map_position | |||||||||
| Reference (13) | |||||||||
| Remark | Gene name created from parsing 'genotype' field from CGC strain information | CGC_data_submission | |||||||
| 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 |
