RLBP1 (retinaldehyde binding protein 1)

2014-09-01  

Identity

HGNC
RLBP1
LOCATION
15q26.1
LOCUSID
6017
ALIAS
CRALBP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6017
MIM: 180090
HGNC: 10024
Ensembl: ENSG00000140522

Variants:

dbSNP: 6017
ClinVar: 6017
TCGA: ENSG00000140522
COSMIC: RLBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140522ENST00000268125P12271
ENSG00000140522ENST00000563254H3BN92
ENSG00000140522ENST00000567787H3BTN3

Expression (GTEx)

0
5
10
15
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

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Diseases associated with visual transductionREACTOMER-HSA-2474795
Retinoid cycle disease eventsREACTOMER-HSA-2453864
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
The retinoid cycle in cones (daylight vision)REACTOMER-HSA-2187335

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
341150912021Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.0
344101882021Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.0
341150912021Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.0
344101882021Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.0
321886922020Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.17
325874562020Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.5
321886922020Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.17
325874562020Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.5
280961912017Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2.10
287648032017A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.25
288135762017Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.13
280961912017Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2.10
287648032017A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.25
288135762017Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.13
268760132016Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium.21

Citation

Dessen P

RLBP1 (retinaldehyde binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54850/rlbp1-(retinaldehyde-binding-protein-1)