Version 5.4
Homo sapiens Protein: C5orf42
Summary
InnateDB Protein IDBP-474346.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C5orf42
Protein Name chromosome 5 open reading frame 42
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000421690
InnateDB Gene IDBG-16920 (C5orf42)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269PubMed:22425360, ECO:0000269PubMed:23012439}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR011044 Quinoprotein amine dehydrogenase, beta chain-like
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H799
PhosphoSite PhosphoSite-Q9H799
TrEMBL
UniProt Splice Variant
Entrez Gene 65250
UniGene Hs.586199
RefSeq XP_005248406
HUGO HGNC:25801
OMIM 614571
CCDS CCDS34146
HPRD 07822
IMGT
EMBL AC008925 AC025449 AK023293 AK024779 AK026735 AK096581 BC028410 BC074774 BC144069 BC150594
GenPept AAH28410 AAH74774 AAI44070 AAI50595 BAB14513 BAB14999 BAB15539 BAC04822

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca