Homo sapiens Gene: RP9
Summary
InnateDB Gene IDBG-11810.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RP9
Gene Name retinitis pigmentosa 9 (autosomal dominant)
Synonyms PAP-1; PAP1
Species Homo sapiens
Ensembl Gene ENSG00000164610
Encoded Proteins
retinitis pigmentosa 9 (autosomal dominant)
retinitis pigmentosa 9 (autosomal dominant)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:33094797-33109401
Strand Reverse strand
Band p14.3
Transcripts
ENST00000297157 ENSP00000297157
ENST00000448915 ENSP00000411577
ENST00000474370
ENST00000492391
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:0003676 nucleic acid binding
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt Q8TA86
TrEMBL C9J6V2
UniProt Splice Variant
Entrez Gene 6100
UniGene Hs.326805 Hs.593431
RefSeq NM_203288
HUGO HGNC:10288
OMIM 607331
CCDS CCDS5440
HPRD
IMGT
EMBL AC074338 AX016710 BC025928
GenPept AAH25928
RNA Seq Atlas 6100