Also known as PAP-1, PAP1, retinitis pigmentosa 9 (autosomal dominant), RP9, pre-mRNA splicing factor, RP9 pre-mRNA splicing factor
Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.
Gene data
RP9- Name
- RP9 pre-mRNA splicing factor
- Type
- protein-coding
- Position
- 33,094,797–33,109,601 (−)
- Aliases
- PAP-1, PAP1
- Ensembl
- ENSG00000164610
- RefSeq RNA
- NM_203288.2, XM_011515468.4, XM_054358764.1
- RefSeq protein
- NP_976033.1, XP_011513770.1, XP_054214739.1
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 Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
RP9 pre-mRNA splicing factor
- Symbol
- RP9
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:33,094,797-33,109,601
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 10290
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6100
- genomic end
- 33109405
- genomic start
- 33134409
- expressed in
- sural nerve
- chromosome
- human chromosome 7
- cytogenetic location
- 7p14.3
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- Interactions
- References
- Further reading
Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.
== Function ==
Excerpted from Wikipedia’s “RP9” article, available under the CC BY-SA 4.0 licence.