WormBase Tree Display for Gene: WBGene00003482
expand all nodes | collapse all nodes | view schema
| 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 | WBGene00054936 | Caenorhabditis remanei | From_analysis | OMA | |||||
| TreeFam | |||||||||
| Inparanoid_8 | |||||||||
| WormBase-Compara | |||||||||
| WBGene00030816 | Caenorhabditis briggsae | From_analysis | OrthoMCL | ||||||
| WBGene00031318 | Caenorhabditis briggsae | From_analysis | OrthoMCL | ||||||
| OMA | |||||||||
| Inparanoid_8 | |||||||||
| WormBase-Compara | |||||||||
| WBGene00144079 | Caenorhabditis brenneri | From_analysis | OMA | ||||||
| TreeFam | |||||||||
| Inparanoid_8 | |||||||||
| WormBase-Compara | |||||||||
| WBGene00129092 | Caenorhabditis japonica | From_analysis | TreeFam | ||||||
| Inparanoid_8 | |||||||||
| WormBase-Compara | |||||||||
| WBGene00231761 | Brugia malayi | From_analysis | WormBase-Compara | ||||||
| CBOVI.g5582 | Caenorhabditis bovis | From_analysis | WormBase-Compara | ||||||
| CSP21.g6603 | Caenorhabditis parvicauda | From_analysis | WormBase-Compara | ||||||
| CSP26.g17495 | Caenorhabditis zanzibari | From_analysis | WormBase-Compara | ||||||
| CSP26.g17497 | Caenorhabditis zanzibari | From_analysis | WormBase-Compara | ||||||
| CSP28.g20497 | Caenorhabditis panamensis | From_analysis | WormBase-Compara | ||||||
| CSP28.g20498 | Caenorhabditis panamensis | From_analysis | WormBase-Compara | ||||||
| CSP29.g23251 | Caenorhabditis becei | From_analysis | WormBase-Compara | ||||||
| CSP31.g22019 | Caenorhabditis uteleia | From_analysis | WormBase-Compara | ||||||
| CSP32.g5921 | Caenorhabditis sulstoni | From_analysis | WormBase-Compara | ||||||
| CSP38.g12038 | Caenorhabditis quiockensis | From_analysis | WormBase-Compara | ||||||
| CSP39.g19945 | Caenorhabditis waitukubuli | From_analysis | WormBase-Compara | ||||||
| CSP40.g8059 | Caenorhabditis tribulationis | From_analysis | WormBase-Compara | ||||||
| CSP40.g8061 | Caenorhabditis tribulationis | From_analysis | WormBase-Compara | ||||||
| Cang_2012_03_13_00300.g8783 | Caenorhabditis angaria | From_analysis | WormBase-Compara | ||||||
| Cang_2012_03_13_08096.g21287 | Caenorhabditis angaria | From_analysis | WormBase-Compara | ||||||
| Cnig_chr_III.g10527 | Caenorhabditis nigoni | From_analysis | WormBase-Compara | ||||||
| Cnig_chr_III.g10529 | Caenorhabditis nigoni | From_analysis | WormBase-Compara | ||||||
| Csp11.Scaffold629.g10216 | Caenorhabditis tropicalis | From_analysis | WormBase-Compara | ||||||
| Csp5_scaffold_00155.g5831 | Caenorhabditis sinica | From_analysis | WormBase-Compara | ||||||
| Csp5_scaffold_03088.g29018 | Caenorhabditis sinica | From_analysis | WormBase-Compara | ||||||
| FL83_19539 | Caenorhabditis latens | From_analysis | WormBase-Compara | ||||||
| GCK72_009604 | Caenorhabditis remanei | From_analysis | WormBase-Compara | ||||||
| GCK72_009606 | Caenorhabditis remanei | From_analysis | WormBase-Compara | ||||||
| OTIPU.nOt.2.0.1.g04781 | Oscheius tipulae | From_analysis | WormBase-Compara | ||||||
| Pan_g22457 | Panagrellus redivivus | From_analysis | WormBase-Compara | ||||||
| Sp34_30209000 | Caenorhabditis inopinata | From_analysis | WormBase-Compara | ||||||
| chrIII_pilon.g8812 | Caenorhabditis elegans | From_analysis | WormBase-Compara | ||||||
| WBGene00176233 | Caenorhabditis japonica | From_analysis | WormBase-Compara | ||||||
| WBGene00217555 | Caenorhabditis japonica | From_analysis | WormBase-Compara | ||||||
| WBGene00244328 | Onchocerca volvulus | From_analysis | WormBase-Compara | ||||||
| WBGene00090464 | Pristionchus pacificus | From_analysis | WormBase-Compara | ||||||
| WBGene00263241 | Strongyloides ratti | From_analysis | WormBase-Compara | ||||||
| WBGene00290319 | Trichuris muris | From_analysis | WormBase-Compara | ||||||
| HGNC:6909 | Homo sapiens | From_analysis | OrthoInspector | ||||||
| PhylomeDB | |||||||||
| MGI:1328314 | Mus musculus | From_analysis | OrthoInspector | ||||||
| PhylomeDB | |||||||||
| RGD:1309732 | Rattus norvegicus | From_analysis | OrthoInspector | ||||||
| PhylomeDB | |||||||||
| 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 |
