RP1 (RP1 axonemal microtubule associated)

2014-11-01  

Identity

HGNC
RP1
LOCATION
8q12.1
LOCUSID
6101
ALIAS
DCDC4A,ORP1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383995422024RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.0
383995422024RP1 Dominant p.Ser740* Pathogenic Variant in 20 Knowingly Unrelated Families Affected by Rod-Cone Dystrophy: Potential Founder Effect in Western Sicily.0
363417272023Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).1
378438942023LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population.0
363417272023Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).1
378438942023LncRNA RP1-276N6.2 Expression and RP1-276N6.2 Gene Polymorphisms Contribute to the Risk of Coronary Artery Disease in Chinese Han Population.0
341837252021In Silico identification of a common mobile element insertion in exon 4 of RP1.3
341837252021In Silico identification of a common mobile element insertion in exon 4 of RP1.3
320058652020Retinitis Pigmentosa Due to Rp1 Biallelic Variants.8
321936592020A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.7
325874562020Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.5
326271062020Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants.8
320058652020Retinitis Pigmentosa Due to Rp1 Biallelic Variants.8
321936592020A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.7
325874562020Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.5

Citation

Dessen P

RP1 (RP1 axonemal microtubule associated)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72769/cancer-prone-explorer/haematological-explorer/