WormBase Tree Display for Gene: WBGene00019808
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| WBGene00019808 | SMap | S_parent | Sequence | R01B10 | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 2 | |||||||
| Name | CGC_name | seip-1 | Person_evidence | WBPerson2754 | |||||
| Sequence_name | R01B10.6 | ||||||||
| Molecular_name | R01B10.6 | ||||||||
| R01B10.6.1 | |||||||||
| CE30822 | |||||||||
| Other_name | CELE_R01B10.6 | Accession_evidence | NDB | BX284605 | |||||
| Public_name | seip-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:02 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 15 Oct 2019 15:58:06 | WBPerson1983 | Name_change | CGC_name | seip-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | seip | ||||||||
| Allele (39) | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00084572 | ||||||||
| 00084573 | |||||||||
| 00084574 | |||||||||
| 00084575 | |||||||||
| 00084576 | |||||||||
| 00084577 | |||||||||
| 00084578 | |||||||||
| 00084579 | |||||||||
| 00084580 | |||||||||
| 00124571 | |||||||||
| Contained_in_operon | CEOP5100 | ||||||||
| Ortholog (25) | |||||||||
| Structured_description | Concise_description | R01B10.6 is orthologous to the human gene BSCL2, which encodes for seipin; seipin is found mainly in the endoplasmic reticulum and associates with lipid droplets. | Paper_evidence | WBPaper00032510 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 29 May 2012 00:00:00 | ||||||||
| Automated_description | Predicted to be involved in lipid droplet organization and lipid storage. Predicted to be located in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2 and hereditary spastic paraplegia 17. Is an ortholog of human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). | 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 | Potential_model | DOID:0110770 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:15832) | ||||
| EFO:MONDO:0015362 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:15832) | ||||||
| DOID:2476 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:15832) | ||||||
| DOID:0111136 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:15832) | ||||||
| DOID:811 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:15832) | ||||||
| Disease_relevance | The human gene BSCL2, orthologous to elegans R01B10.6, encodes for seipin, an integral membrane protein in the endoplasmic reticulum; seipin is concentrated at junctions with cytoplasmic lipid droplets and is likely involved in lipid droplet assembly and maintenance; mutations in BSCL2/seipin are associated with congenital generalized lipodystrophy (CGL) (where a loss of functional seipin disrupts the normal development and function of adipocytes, which prevents the normal storage of fats in the body), distal hereditary motor neuropathy (where misfolded seipin proteins accumulate in the endoplasmic reticulum, likely damaging and killing motor neurons, which leads to muscle weakness) and Silver spastic paraplegia syndrome, characterized by muscle weakness and wasting in the hands and abnormal muscle stiffness (spasticity) in the legs, a likely result of misfolded seipin proteins that accumulate within neurons, leading to cell damage and cell death. | Homo sapiens | Paper_evidence | WBPaper00032510 | |||||
| Accession_evidence | OMIM | 269700 | |||||||
| 600794 | |||||||||
| 270685 | |||||||||
| 606158 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 29 May 2012 00:00:00 | ||||||||
| Molecular_info | Corresponding_CDS | R01B10.6 | |||||||
| Corresponding_transcript | R01B10.6.1 | ||||||||
| Other_sequence | CBC15223_1 | ||||||||
| CBC09555_1 | |||||||||
| Dviv_isotig23520 | |||||||||
| CJC14233_1 | |||||||||
| Associated_feature | WBsf652677 | ||||||||
| WBsf652678 | |||||||||
| WBsf233758 | |||||||||
| Experimental_info | RNAi_result | WBRNAi00017291 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00051093 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern | Expr1019652 | ||||||||
| Expr1038579 | |||||||||
| Expr1154800 | |||||||||
| Expr2005299 | |||||||||
| Expr2023519 | |||||||||
| Drives_construct | WBCnstr00017662 | ||||||||
| WBCnstr00025582 | |||||||||
| Construct_product | WBCnstr00017650 | ||||||||
| WBCnstr00025582 | |||||||||
| WBCnstr00043031 | |||||||||
| Antibody | WBAntibody00002878 | ||||||||
| Microarray_results (15) | |||||||||
| Expression_cluster (45) | |||||||||
| Interaction | WBInteraction000417059 | ||||||||
| Map_info | Map | V | Position | -0.386972 | |||||
| Positive | Positive_clone | R01B10 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00038491 | ||||||||
| WBPaper00052377 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00056988 | |||||||||
| WBPaper00060122 | |||||||||
| WBPaper00061558 | |||||||||
| WBPaper00062134 | |||||||||
| WBPaper00062463 | |||||||||
| WBPaper00063982 | |||||||||
| WBPaper00064970 | |||||||||
| 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 |
