RP1 (RP1 axonemal microtubule associated)

2014-11-01  

Identity

HGNC
LOCATION
8q12.1
LOCUSID
ALIAS
DCDC4A,ORP1
FUSION GENES

Other Information

Locus ID:

NCBI: 6101
MIM: 603937
HGNC: 10263
Ensembl: ENSG00000104237

Variants:

dbSNP: 6101
ClinVar: 6101
TCGA: ENSG00000104237
COSMIC: RP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104237ENST00000220676P56715
ENSG00000104237ENST00000636932A0A1B0GTV9
ENSG00000104237ENST00000637698A0A1B0GUH0

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117730082002Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.49
239405042013Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.27
158636742005Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.25
268065612016Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.22
159802102005Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.19
199331892010Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.18
229178912012Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.17
220526042012RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.15
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
223179092012RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.11

Citation

Dessen P

RP1 (RP1 axonemal microtubule associated)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72769/rp1