RP9: Retinitis Pigmentosa 9 (Autosomal Dominant)
Gene encoding a pre-mRNA splicing factor associated with autosomal dominant retinitis pigmentosa
Gene Information Card
| Symbol | RP9 |
|---|---|
| Full Name | retinitis pigmentosa 9 (autosomal dominant) |
| Gene Type | protein coding |
| Chromosomal Location | 7p14.3 |
| NCBI Gene ID | 6100 ncbi.nlm.nih.gov/gene/6100 |
| Ensembl ID | ENSG00000106526 |
| UniProt ID | Q8TAQ9 |
| OMIM ID | 180104 |
| HGNC ID | 10293 |
| Aliases | PAP-1, RP9, retinitis pigmentosa 9 protein |
Description
RP9 (retinitis pigmentosa 9) is a protein-coding gene located on chromosome 7p14.3. It encodes a pre-mRNA splicing factor that is part of the U2 snRNP complex. Mutations in RP9 are associated with autosomal dominant retinitis pigmentosa (adRP), a progressive retinal degeneration leading to vision loss. The protein is also known as PAP-1 (Pim-1-associated protein).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 9 (autosomal dominant) | Missense mutations in RP9 disrupt pre-mRNA splicing in photoreceptor cells, leading to retinal degeneration. | OMIM #180104; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Testis | 8.2 | Low |
| Brain | 6.1 | Low |
| Heart | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 10.3 | Moderate expression |
| HEK293 | 7.8 | Low expression |
| HeLa | 5.4 | Low expression |
| K562 | 2.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.5A>G (p.Glu2Gly) | Missense | Rare | Associated with adRP |
| c.134G>A (p.Arg45Gln) | Missense | Rare | Associated with adRP |
| c.226G>A (p.Glu76Lys) | Missense | Rare | Associated with adRP |
Mutation functional classification
Loss of Function (LOF)
Not established; mutations likely cause dominant-negative or gain-of-function effects.
Gain of Function (GOF)
Possible; missense mutations may alter splicing factor activity.
Dominant Negative (DN)
Proposed mechanism for adRP mutations in RP9.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
Pathways
• mRNA splicing - major pathway (Reactome: R-HSA-72163)
• Processing of capped intron-containing pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
The RP9 protein (PAP-1) is a 221-amino-acid pre-mRNA splicing factor that localizes to the nucleus and associates with the U2 snRNP complex. It is involved in the early steps of spliceosome assembly. Mutations in RP9 cause autosomal dominant retinitis pigmentosa, likely through a dominant-negative mechanism affecting splicing in photoreceptor cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RP9 Knockout HEK293 Cell Line | EDJ-KQ4934 | Human | 6100 | Details Get a Quote |
| NLRP9 Knockout HEK293 Cell Line | EDJ-KQ14439 | Human | 338321 | Details Get a Quote |
| RP9 Knockout A-549 Cell Line | EDJ-KQ29037 | Human | 6100 | Details Get a Quote |
| RP9 Knockout HCT 116 Cell Line | EDJ-KQ29038 | Human | 6100 | Details Get a Quote |
| RP9 Knockout HeLa Cell Line | EDJ-KQ29039 | Human | 6100 | Details Get a Quote |
| SRP9 Knockout HEK293 Cell Line | EDJ-KQ50657 | Human | 6726 | Details Get a Quote |
| PARP9 Knockout HEK293 Cell Line | EDJ-KQ51788 | Human | 83666 | Details Get a Quote |
| SRP9 Knockout HeLa Cell Line | EDJ-KQ54564 | Human | 6726 | Details Get a Quote |
| PARP9 Knockout HeLa Cell Line | EDJ-KQ57464 | Human | 83666 | Details Get a Quote |
| NLRP9 Knockout HeLa Cell Line | EDJ-KQ59603 | Human | 338321 | Details Get a Quote |
| SRP9 Knockout A-549 Cell Line | EDJ-KQ63048 | Human | 6726 | Details Get a Quote |
| PARP9 Knockout A-549 Cell Line | EDJ-KQ65968 | Human | 83666 | Details Get a Quote |
| NLRP9 Knockout A-549 Cell Line | EDJ-KQ68068 | Human | 338321 | Details Get a Quote |
| SRP9 Knockout HCT 116 Cell Line | EDJ-KQ71522 | Human | 6726 | Details Get a Quote |
| PARP9 Knockout HCT 116 Cell Line | EDJ-KQ74390 | Human | 83666 | Details Get a Quote |
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