WormBase Tree Display for Gene: WBGene00013742
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| WBGene00013742 | SMap | S_parent | Sequence | Y111B2A | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | sas-1 | Paper_evidence | WBPaper00046032 | |||||
| Person_evidence | WBPerson561 | ||||||||
| Sequence_name | Y111B2A.24 | ||||||||
| Molecular_name | Y111B2A.24 | ||||||||
| Y111B2A.24.1 | |||||||||
| CE43493 | |||||||||
| Other_name | Y111B2E.a | Curator_confirmed | WBPerson1983 | ||||||
| Remark | Old cosmid naming mapped via unique overlapping PCR_product on CDSs | ||||||||
| CELE_Y111B2A.24 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | sas-1 | ||||||||
| DB_info | Database | AceView | gene | 3N799 | |||||
| WormQTL | gene | WBGene00013742 | |||||||
| WormFlux | gene | WBGene00013742 | |||||||
| OMIM | disease | 615948 | |||||||
| gene | 615944 | ||||||||
| NDB | locus_tag | CELE_Y111B2A.24 | |||||||
| NCBI | gene | 190956 | |||||||
| RefSeq | protein | NM_067250.5 | |||||||
| TrEMBL | UniProtAcc | Q9BHL0 | |||||||
| UniProt_GCRP | UniProtAcc | Q9BHL0 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 26 May 2004 16:54:55 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of WS125 | ||
| 2 | 12 Aug 2015 11:32:38 | WBPerson2970 | Event | Acquires_merge | WBGene00004724 | ||||
| Acquires_merge | WBGene00004724 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | sas | ||||||||
| Allele (242) | |||||||||
| Legacy_information | [Schnabel H] maternal effect embryonic lethal with defect in spindle assembly | ||||||||
| Strain | WBStrain00007755 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00091343 | ||||||||
| Contained_in_operon | CEOP3889 | ||||||||
| Ortholog (30) | |||||||||
| Structured_description | Concise_description | sas-1 is an ortholog of human C2CD3, RPH3A (rabphilin 3A) and DOC2A (double C2-like domains, alpha); SAS-1 is a C2 domain containing protein that stabilizes and localizes to centrioles; sas-1 is involved in embryo development; sas-1 is expressed in the sperm. | Paper_evidence | WBPaper00006395 | |||||
| WBPaper00046032 | |||||||||
| Person_evidence | WBPerson13765 | ||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 10 Feb 2016 00:00:00 | ||||||||
| Automated_description | Located in centriole. Expressed in sperm. Used to study orofaciodigital syndrome. | 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:4501 | Homo sapiens | Paper_evidence | WBPaper00046032 | ||||
| Accession_evidence | OMIM | 615948 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Feb 2015 00:00:00 | ||||||||
| Disease_relevance | Mutations in human C2CD3 (C2 calcium-dependent domain-containing protein 3) are implicated in a type of Orofaciodigital syndrome (OFD); OFD syndrome a group of related conditions that affect the development of the oral cavity, facial features, and digits; most forms of this disorder are also associated with brain abnormalities and some degree of intellectual disability; sas-1 in elegans, related to C2CD3, is a centriole component, required for spindle assembly in the embryo and proper centriole formation; centrioles are small microtubule-based organelles that are critical for the formation of cilia and flagella, as well as for centrosomes in animal cells; sas-1 mutant paternal centrioles are unstable; SAS-1 also binds to and stabilizes microtubules when expressed in human cells; though SAS-1 cannot rescue C2CD3 depletion in human cells, mutations analogous to those that impair SAS-1 function in C. elegans also impact C2CD3 function in human cells; these studies indicate that sas-1 can be used as a functional model for C2CD3, and confirms that OFD are most likely ciliopathies. | Homo sapiens | Paper_evidence | WBPaper00046032 | |||||
| Accession_evidence | OMIM | 615948 | |||||||
| 615944 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 24 Feb 2015 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000347 | ||||||||
| Molecular_info | Corresponding_CDS | Y111B2A.24 | |||||||
| Corresponding_CDS_history | Y111B2A.24:wp200 | ||||||||
| Corresponding_transcript | Y111B2A.24.1 | ||||||||
| Other_sequence (40) | |||||||||
| Associated_feature | WBsf994709 | ||||||||
| WBsf994710 | |||||||||
| WBsf994711 | |||||||||
| WBsf1016242 | |||||||||
| WBsf1016243 | |||||||||
| WBsf1016244 | |||||||||
| WBsf1016245 | |||||||||
| WBsf225924 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00055364 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00002689 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00055363 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00036567 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr12081 | ||||||||
| Expr12082 | |||||||||
| Expr1014109 | |||||||||
| Expr1036160 | |||||||||
| Expr1158886 | |||||||||
| Expr2015600 | |||||||||
| Expr2033835 | |||||||||
| Antibody | WBAntibody00002596 | ||||||||
| Microarray_results (18) | |||||||||
| Expression_cluster (101) | |||||||||
| Interaction | WBInteraction000548028 | ||||||||
| WBInteraction000582635 | |||||||||
| Map_info | Positive | Inside_rearr | tDf5 | ||||||
| Positive_clone | Y111B2A | Inferred_automatically | From sequence, transcript, pseudogene data | ||||||
| Mapping_data | Pos_neg_data | 10208 | |||||||
| Interpolated_map_position | III | 18.2127 | |||||||
| Reference | WBPaper00003469 | ||||||||
| WBPaper00011395 | |||||||||
| WBPaper00025398 | |||||||||
| WBPaper00026660 | |||||||||
| WBPaper00034910 | |||||||||
| WBPaper00041771 | |||||||||
| WBPaper00046032 | |||||||||
| WBPaper00064496 | |||||||||
| WBPaper00066312 | |||||||||
| Method | Gene |
