WormBase Tree Display for Gene: WBGene00003482
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| WBGene00003482 | Evidence | CGC_data_submission | |||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | CHROMOSOME_III | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | mua-3 | Person_evidence | WBPerson1052 | |||||
| Sequence_name | K08E5.3 | ||||||||
| Molecular_name | K08E5.3a | ||||||||
| K08E5.3a.1 | |||||||||
| CE28049 | |||||||||
| K08E5.3b | |||||||||
| CE37256 | |||||||||
| K08E5.3b.1 | |||||||||
| Other_name | CELE_K08E5.3 | Accession_evidence | NDB | BX284603 | |||||
| Public_name | mua-3 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:32 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | mua | ||||||||
| Allele (324) | |||||||||
| Legacy_information | [C.elegansII] rh169 : progressive detachment of muscles during larval development, possibly defective in reformation of muscle-cuticle links at each molt. Cloned: encodes predicted 3617 aa protein with TM domain, large extracellular domain containing 52 EGF repeats, 5 LDL repeats, etc. [NJ] | ||||||||
| Strain | WBStrain00030527 | ||||||||
| WBStrain00007983 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (12) | |||||||||
| Ortholog (42) | |||||||||
| Paralog (13) | |||||||||
| Structured_description | Automated_description | Predicted to enable collagen binding activity and intermediate filament binding activity. Involved in cell-matrix adhesion. Located in hemidesmosome and intermediate filament. Expressed in several structures, including amphid neurons; enteric muscle; excretory system; phasmid sensillum; and rectum. Used to study Marfan syndrome. Human ortholog(s) of this gene implicated in multiple epiphyseal dysplasia 5 and osteoarthritis. Is an ortholog of human MATN3 (matrilin 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:14323 | Homo sapiens | Paper_evidence | WBPaper00046710 | ||||
| Accession_evidence | OMIM | 154700 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 05 Aug 2015 00:00:00 | ||||||||
| Potential_model | DOID:2256 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6909) | |||||
| DOID:0070299 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6909) | ||||||
| DOID:8398 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6909) | ||||||
| Disease_relevance | Mutations in the human gene FBN1 (Fibrillin 1) are implicated in Marfan syndrome, a heritable autosomal dominant disorder of fibrous connective tissue; signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression; the primary features of Marfan syndrome are vision problems caused by a dislocated lens, connective tissue and skeletal defects such as elongated extremities, joint hypermobility and scoliosis; C. elegans mua-3 shares high homology with FBN1, mua-3 is required for tissue integrity and attachment, mua-3 mutants show internal organ detachment; further studies in C. elegans indicate that dpy-17, a collagen acts as a genetic suppressor of mua-3, and interacts with dpy-31, a BMP-1/Tolloid-like metalloprotease required for TGF activation in mammals; knock-down of dbl-1, a TGF homolog, in mua-3 modestly rescued the lethality of mua-3 mutants, suggesting a potentially conserved interaction between MUA-3 and a TGF pathway; these genes provide a genetic model to study TGF function in development of Marfan pathology. | Homo sapiens | Paper_evidence | WBPaper00004799 | |||||
| WBPaper00046710 | |||||||||
| Accession_evidence | OMIM | 154700 | |||||||
| 134797 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 25 Sep 2015 00:00:00 | ||||||||
| Models_disease_in_annotation | WBDOannot00000360 | ||||||||
| Molecular_info | Corresponding_CDS | K08E5.3a | |||||||
| K08E5.3b | |||||||||
| Corresponding_CDS_history | K08E5.3:wp52 | ||||||||
| Corresponding_transcript | K08E5.3a.1 | ||||||||
| K08E5.3b.1 | |||||||||
| Other_sequence (49) | |||||||||
| Associated_feature (21) | |||||||||
| Experimental_info | RNAi_result (26) | ||||||||
| Expr_pattern | Expr1627 | ||||||||
| Expr1015401 | |||||||||
| Expr1031597 | |||||||||
| Expr1154001 | |||||||||
| Expr2013822 | |||||||||
| Expr2032062 | |||||||||
| Antibody | WBAntibody00000392 | ||||||||
| Microarray_results (26) | |||||||||
| Expression_cluster (256) | |||||||||
| Interaction (27) | |||||||||
| WBProcess | WBbiopr:00000006 | ||||||||
| Map_info | Map | III | Position | 1.97555 | Error | 0.010818 | |||
| Well_ordered | |||||||||
| Positive | Positive_clone | K08E5 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| T20G5 | |||||||||
| Mapping_data | Multi_point | 2243 | |||||||
| 2244 | |||||||||
| 2246 | |||||||||
| 3172 | |||||||||
| 3177 | |||||||||
| 3178 | |||||||||
| 5446 | |||||||||
| Reference (35) | |||||||||
| Remark | Sequence connection from [Plenefisch JD] | ||||||||
| Method | Gene |
