Mus musculus Protein: Rp2h
Summary
InnateDB Protein IDBP-134477.6
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 ENSMUSP00000033372
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.
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0004550 nucleoside diphosphate kinase activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005525 GTP binding
Biological Process
GO:0000902 cell morphogenesis
GO:0006165 nucleoside diphosphate phosphorylation
GO:0006183 GTP biosynthetic process
GO:0006228 UTP biosynthetic process
GO:0006241 CTP biosynthetic process
GO:0006892 post-Golgi vesicle-mediated transport
GO:0007010 cytoskeleton organization
GO:0015031 protein transport
GO:0043547 positive regulation of GTPase activity
Cellular Component
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005814 centriole
GO:0005886 plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0036064 ciliary basal body
GO:0070062 extracellular vesicular exosome
GO:1990075 periciliary membrane compartment
Protein Structure and Domains
PDB ID MGI:1277953
InterPro IPR001564 Nucleoside diphosphate kinase
IPR006599 CARP motif
IPR012945 Tubulin binding cofactor C-like domain
IPR013912 Adenylate cyclase-associated CAP, C-terminal
IPR017332 Protein XRP2
PFAM PF00334
PF07986
PF08603
PRINTS PR01243
PIRSF PIRSF037947
SMART SM00562
SM00673
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9EPK2
PhosphoSite PhosphoSite-Q9EPK2
TrEMBL
UniProt Splice Variant
Entrez Gene 19889
UniGene Mm.409016
RefSeq NP_598430
MGI ID
MGI Symbol Rp2h
OMIM
CCDS CCDS30041
HPRD
IMGT
EMBL AJ303371 AK033954 AK044002 AK050418 AK076907 AK132713 AK162309 BC049698
GenPept AAH49698 BAC28525 BAC31734 BAC34245 BAC36524 BAE21316 BAE36846 CAC21499