Version 5.4
Homo sapiens Protein: RP9
Summary
InnateDB Protein IDBP-11812.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RP9
Protein Name retinitis pigmentosa 9 (autosomal dominant)
Synonyms PAP-1; PAP1;
Species Homo sapiens
Ensembl Protein ENSP00000297157
InnateDB Gene IDBG-11810 (RP9)
Protein Structure
UniProt Annotation
Function Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000250}.
Disease Associations Retinitis pigmentosa 9 (RP9) [MIM:180104]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:12032732}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Appears to be expressed in a wide range of tissues.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [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
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0008380 RNA splicing
GO:0050890 cognition
Cellular Component
GO:0005634 nucleus
GO:0005785 signal recognition particle receptor complex
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TA86
PhosphoSite PhosphoSite-Q8TA86
TrEMBL
UniProt Splice Variant
Entrez Gene 6100
UniGene Hs.593431
RefSeq NP_976033
HUGO HGNC:10288
OMIM 607331
CCDS CCDS5440
HPRD 08457
IMGT
EMBL AX016710 BC025928
GenPept AAH25928

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