Version: 8.0.0Date: Tue Jan 28 2025
Gene
cdc-48.1
- Species
- Caenorhabditis elegans
- Symbol
- cdc-48.1
- Name
- Cell Division Cycle related 48.1
- Synonyms
- C06A1.1
- CELE_C06A1.1
- Biotype
- protein coding gene
- Automated Description
- Enables ATP hydrolysis activity and identical protein binding activity. Involved in several processes, including ERAD pathway; determination of adult lifespan; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in nucleoplasm and perinuclear region of cytoplasm. Part of VCP-NPL4-UFD1 AAA ATPase complex. Is expressed in several structures, including body wall musculature; germ line; and gonad. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease type 2Y; Paget's disease of bone; frontotemporal dementia and/or amyotrophic lateral sclerosis 6; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1; and inclusion body myositis. Orthologous to human VCP (valosin containing protein).
- WB Description
- cdc-48.1 encodes a type II AAA ATPase, homologous to yeast Cdc48 and mammalian p97/VCP, that functions as a ubiquitin-selective chaperone; cdc-48.1 acts redundantly with cdc-48.2 and in conjunction with ufd-1 and npl-4 in endoplasmic reticulum-associated protein degradation (ERAD); in addition, CDC-48.1, UFD-2 and chn-1 function together to regulate myosin assembly and muscle formation via the UNC-45 myosin chaperone, and CDC-48.1 and ATX-3 function together in determination of adult lifespan via interaction with the DAF-2-mediated insulin signaling pathway; cdc-48.1 and cdc-48.2 also interact to provide an essential function during embryonic development; CDC-48.1 exhibits ATPase activity in vitro, and in yeast two-hybrid assays, CDC-48.1 interacts with itself, CDC-48.2, ATX-3, UFD-1, and UBXN-1, consistent with studies in yeast and mammals that show CDC48 homologs form homohexameric complexes that interact with adaptor proteins homologous to UFD-1 and UBXN-1.
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23077
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
- None
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- ChrII:10560036...10563407 - (3.37 kb)
- Assembly version
- WBcel235
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.