WormBase Tree Display for Gene: WBGene00022816
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| WBGene00022816 | SMap | S_parent | Sequence | CHROMOSOME_III | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 3 | |||||||
| Name | CGC_name | fbn-1 | Person_evidence | WBPerson545 | |||||
| WBPerson3379 | |||||||||
| WBPerson1983 | |||||||||
| Sequence_name | ZK783.1 | ||||||||
| Molecular_name (27) | |||||||||
| Other_name | let-821 | ||||||||
| cpg-16 | Paper_evidence | WBPaper00053350 | |||||||
| CELE_ZK783.1 | Accession_evidence | NDB | BX284603 | ||||||
| Public_name | fbn-1 | ||||||||
| DB_info | Database | AceView | gene | 3I729 | |||||
| WormQTL | gene | WBGene00022816 | |||||||
| WormFlux | gene | WBGene00022816 | |||||||
| OMIM | disease | 154700 | |||||||
| gene | 134797 | ||||||||
| 612570 | |||||||||
| NDB | locus_tag | CELE_ZK783.1 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00022816|UniProtKB=I6Z0I7 | |||||||
| family | PTHR24039 | ||||||||
| NCBI | gene | 176076 | |||||||
| RefSeq | protein | NM_001276783.3 | |||||||
| NM_001276787.4 | |||||||||
| NM_001276782.4 | |||||||||
| NM_001276789.4 | |||||||||
| NM_001276785.3 | |||||||||
| NM_001276780.3 | |||||||||
| NM_001276786.3 | |||||||||
| NM_066269.6 | |||||||||
| NM_001276788.3 | |||||||||
| TrEMBL | UniProtAcc | I7J4C9 | |||||||
| I7LFE6 | |||||||||
| I7K4J6 | |||||||||
| I7LHV9 | |||||||||
| I7J4C8 | |||||||||
| Q23587 | |||||||||
| I6Z0I7 | |||||||||
| I7K4J2 | |||||||||
| I7LHV8 | |||||||||
| UniProt_GCRP | UniProtAcc | I6Z0I7 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:06 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 28 Jul 2005 14:07:57 | WBPerson2970 | Name_change | CGC_name | fbn-1 | ||||
| 3 | 20 May 2019 14:10:26 | WBPerson1983 | Name_change | CGC_name | fbn-1 | ||||
| Other_name | let-821 | ||||||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | fbn | ||||||||
| Allele (207) | |||||||||
| Strain | WBStrain00054908 | ||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation | 00023935 | ||||||||
| 00126798 | |||||||||
| Ortholog (39) | |||||||||
| Paralog | WBGene00003173 | Caenorhabditis elegans | From_analysis | Panther | |||||
| WBGene00003482 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00003497 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00007170 | Caenorhabditis elegans | From_analysis | Panther | ||||||
| WBGene00001106 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00004963 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00009114 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00010134 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00013498 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00013855 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| Structured_description | Concise_description | fbn-1 encodes a protein homologous to the human extracellular matrix protein fibrillin-1 (FBN1); in C. elegans, fbn-1 activity is required for completion of molting, particularly the L3/L4 or L4/Adult molts. | Paper_evidence | WBPaper00004103 | |||||
| WBPaper00026763 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 18 Jul 2007 00:00:00 | ||||||||
| Automated_description | Predicted to enable calcium ion binding activity. Predicted to be located in membrane. Expressed in vulval cell. Used to study connective tissue disease. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; aortic disease (multiple); and bone disease (multiple). Is an ortholog of human FBN1 (fibrillin 1); FBN2 (fibrillin 2); and FBN3 (fibrillin 3). | 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:65 | Homo sapiens | Paper_evidence | WBPaper00046588 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 26 Oct 2018 00:00:00 | ||||||||
| Potential_model (13) | |||||||||
| Disease_relevance | Mutations in the human extracellular matrix protein fibrillin-1 (FBN1) lead to Marfan syndrome and several other disorders of connective tissue and skin; Both Marfan and Weill-Marchesani syndromes are characterized by abnormalities in connective tissue leading to heart, eye and skeletal abnormalities; FBN1 gene mutations also cause acromicric dysplasia characterized by severely short stature, short limbs and stiff joints; FBN1 gene mutations also cause MASS syndrome, involving abnormalities of the mitral heart valve, aorta, skeleton and skin; FBN1 gene mutations may also be involved in Shprintzen-Goldberg syndrome in infants which involves premature fusion of certain bones of the skull, and skeletal and skin abnormalities; in elegans mutations in fbn-1/fibrillin1 cause defects in molting. | Homo sapiens | Paper_evidence | WBPaper00026763 | |||||
| Accession_evidence | OMIM | 154700 | |||||||
| 134797 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 09 Dec 2013 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000253 | ||||||||
| Molecular_info | Corresponding_CDS | ZK783.1a | |||||||
| ZK783.1b | |||||||||
| ZK783.1d | |||||||||
| ZK783.1e | |||||||||
| ZK783.1f | |||||||||
| ZK783.1g | |||||||||
| ZK783.1h | |||||||||
| ZK783.1j | |||||||||
| ZK783.1k | |||||||||
| Corresponding_CDS_history | ZK783.1:wp206 | ||||||||
| ZK783.1i:wp275 | |||||||||
| Corresponding_transcript | ZK783.1a.1 | ||||||||
| ZK783.1b.1 | |||||||||
| ZK783.1d.1 | |||||||||
| ZK783.1e.1 | |||||||||
| ZK783.1f.1 | |||||||||
| ZK783.1g.1 | |||||||||
| ZK783.1h.1 | |||||||||
| ZK783.1j.1 | |||||||||
| ZK783.1k.1 | |||||||||
| Other_sequence (20) | |||||||||
| Associated_feature (22) | |||||||||
| Experimental_info | RNAi_result (22) | ||||||||
| Expr_pattern | Expr15951 | ||||||||
| Expr1025080 | |||||||||
| Expr1040095 | |||||||||
| Expr1163127 | |||||||||
| Expr2011446 | |||||||||
| Expr2029684 | |||||||||
| Drives_construct | WBCnstr00042617 | ||||||||
| Construct_product | WBCnstr00014819 | ||||||||
| WBCnstr00042617 | |||||||||
| Microarray_results (30) | |||||||||
| Expression_cluster (280) | |||||||||
| Interaction (23) | |||||||||
| Map_info | Map | III | Position | -0.655224 | Error | 0.002689 | |||
| Positive | Positive_clone | ZK783 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 5355 | |||||||
| 4789 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (19) | |||||||||
| 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 |
