Mus musculus Protein: Rp2h | |||||||||||||||||
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Summary | |||||||||||||||||
InnateDB Protein | IDBP-249750.6 | ||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||
Gene Symbol | Rp2h | ||||||||||||||||
Protein Name | retinitis pigmentosa 2 homolog (human) | ||||||||||||||||
Synonyms | AI662636; Rp2; | ||||||||||||||||
Species | Mus musculus | ||||||||||||||||
Ensembl Protein | ENSMUSP00000111045 | ||||||||||||||||
InnateDB Gene | IDBG-134473 (Rp2h) | ||||||||||||||||
Protein Structure | |||||||||||||||||
UniProt Annotation | |||||||||||||||||
Function | Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins. | ||||||||||||||||
Subcellular Localization | Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Note=Detected predominantly to the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus (By similarity). {ECO:0000250}. | ||||||||||||||||
Disease Associations | |||||||||||||||||
Tissue Specificity | Retina (at protein level). {ECO:0000269PubMed:12417528}. | ||||||||||||||||
Comments | |||||||||||||||||
Interactions | |||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||
PDB ID | MGI:1277953 | ||||||||||||||||
InterPro |
IPR001564
Nucleoside diphosphate kinase IPR006599 CARP motif IPR012945 Tubulin binding cofactor C-like domain IPR017332 Protein XRP2 |
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PFAM |
PF00334
PF07986 |
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PRINTS |
PR01243
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PIRSF |
PIRSF037947
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SMART |
SM00562
SM00673 |
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TIGRFAMs | |||||||||||||||||
Post-translational Modifications | |||||||||||||||||
Modification | |||||||||||||||||
Cross-References | |||||||||||||||||
SwissProt | Q9EPK2 | ||||||||||||||||
PhosphoSite | PhosphoSite-Q9EPK2 | ||||||||||||||||
TrEMBL | |||||||||||||||||
UniProt Splice Variant | |||||||||||||||||
Entrez Gene | 19889 | ||||||||||||||||
UniGene | Mm.409016 | ||||||||||||||||
RefSeq | NP_001277573 | ||||||||||||||||
MGI ID | |||||||||||||||||
MGI Symbol | Rp2h | ||||||||||||||||
OMIM | |||||||||||||||||
CCDS | CCDS72346 | ||||||||||||||||
HPRD | |||||||||||||||||
IMGT | |||||||||||||||||
EMBL | AJ303371 AK033954 AK044002 AK050418 AK076907 AK132713 AK162309 BC049698 | ||||||||||||||||
GenPept | AAH49698 BAC28525 BAC31734 BAC34245 BAC36524 BAE21316 BAE36846 CAC21499 | ||||||||||||||||