RP1L1 (RP1 like 1)

2014-11-01  

Identity

HGNC
RP1L1
LOCATION
8p23.1
LOCUSID
94137
ALIAS
DCDC4B,OCMD,RP88

Other Information

Locus ID:

NCBI: 94137
MIM: 608581
HGNC: 15946
Ensembl: ENSG00000183638

Variants:

dbSNP: 94137
ClinVar: 94137
TCGA: ENSG00000183638
COSMIC: RP1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183638ENST00000382483Q8IWN7

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
382657842024Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.1
384850372024Research progress of RP1L1 gene in disease.0
382657842024Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.1
384850372024Research progress of RP1L1 gene in disease.0
348656062022RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.0
348656062022RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.0
321762612020Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.5
329401072020A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.3
321762612020Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.5
329401072020A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.3
318334362019Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.11
318334362019Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.11
300251302018Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.14
300251302018Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.14
270295562017Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.13

Citation

Dessen P

RP1L1 (RP1 like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72770/meetings/js/_common.js