RP1 Gene
RP1 (RP1 Axonemal Microtubule Associated) Gene
Gene Information Card
| Symbol | RP1 |
|---|---|
| Full Name | RP1 axonemal microtubule associated |
| Gene Type | Protein coding |
| Chromosomal Location | 8q12.1 |
| NCBI Gene ID | 6101 ncbi.nlm.nih.gov/gene/6101 |
| Ensembl ID | ENSG00000104228 |
| UniProt ID | P56715 |
| OMIM ID | 603937 |
| HGNC ID | 10263 |
| Aliases | ORP1, DCDC4A, RP1-205 |
Description
The RP1 gene encodes a protein localized to the photoreceptor connecting cilium, essential for maintaining photoreceptor cell structure and function. Mutations in RP1 are a common cause of autosomal dominant and recessive retinitis pigmentosa, a progressive retinal degeneration disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal dominant) | Dominant-negative or haploinsufficiency due to RP1 mutations disrupting ciliary transport | ClinVar, OMIM |
| Retinitis pigmentosa (autosomal recessive) | Biallelic loss-of-function mutations leading to photoreceptor degeneration | ClinVar, OMIM |
| Cone-rod dystrophy | Rare RP1 mutations affecting both rod and cone photoreceptors | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | High |
| Testis | Low | Low |
| Brain | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.0 | Not expressed |
| HUVEC (umbilical vein endothelial) | 0.0 | Not expressed |
| Retinal photoreceptor cells | High | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2029C>T (p.Arg677Ter) | Nonsense | Common in autosomal dominant RP | Loss of function |
| c.4139_4140del (p.Lys1380Argfs*5) | Frameshift | Reported in recessive RP | Loss of function |
| c.2285G>A (p.Arg762Gln) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and photoreceptor degeneration.
Gain of Function (GOF)
Not reported for RP1.
Dominant Negative (DN)
Missense mutations in the N-terminal domain may interfere with wild-type RP1 function in dominant RP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliopathy
• Phototransduction cascade
Protein Summary
The RP1 protein is a microtubule-associated protein essential for the structural integrity of the photoreceptor connecting cilium. It interacts with other ciliary proteins to facilitate protein transport and maintain outer segment disc morphogenesis. Loss of RP1 function leads to progressive photoreceptor cell death and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RP1 Knockout HEK293 Cell Line | EDJ-KQ2183 | Human | 6101 | Details Get a Quote |
| RP1L1 Knockout HEK293 Cell Line | EDJ-KQ11296 | Human | 94137 | Details Get a Quote |
| RP1 Knockout HeLa Cell Line | EDJ-KQ54337 | Human | 6101 | Details Get a Quote |
| RP1L1 Knockout HeLa Cell Line | EDJ-KQ57883 | Human | 94137 | Details Get a Quote |
| RP1 Knockout A-549 Cell Line | EDJ-KQ62832 | Human | 6101 | Details Get a Quote |
| RP1L1 Knockout A-549 Cell Line | EDJ-KQ66378 | Human | 94137 | Details Get a Quote |
| RP1 Knockout HCT 116 Cell Line | EDJ-KQ71299 | Human | 6101 | Details Get a Quote |
| RP1L1 Knockout HCT 116 Cell Line | EDJ-KQ74802 | Human | 94137 | Details Get a Quote |
