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：
ClinVar：https://www.clinvar.com/gene/6101
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RP1

Gene Ontology (GO)

• GO:0003774 (GO:0003774) • GO:0005515 (GO:0005515)
• GO:0005929 (GO:0005929) • GO:0007601 (GO:0007601)
• GO:0007602 (GO:0007602) • GO:0032391 (GO:0032391)
• GO:0036064 (GO:0036064) • GO:0060170 (GO:0060170)

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

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Displaying Records 1 To 15 Of 160 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/6101
OMIM https://www.omim.org/entry/603937
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10263
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104228
UniProt https://www.uniprot.org/uniprot/P56715
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=RP1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RP1
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