RLBP1 (retinaldehyde binding protein 1)

2014-09-01 Affiliation

Identity

HGNC

RLBP1

LOCATION

15q26.1

LOCUSID

6017

ALIAS

CRALBP

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000140522	ENST00000268125	P12271
ENSG00000140522	ENST00000563254	H3BN92
ENSG00000140522	ENST00000567787	H3BTN3

Expression (GTEx)

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

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Diseases associated with visual transduction	REACTOME	R-HSA-2474795
Retinoid cycle disease events	REACTOME	R-HSA-2453864
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)	REACTOME	R-HSA-2453902
The retinoid cycle in cones (daylight vision)	REACTOME	R-HSA-2187335

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19165527	2009	Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.	56
15865448	2005	Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.	45
19846785	2009	Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.	23
20591486	2010	Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.	22
11868161	2002	Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.	21
12536144	2003	Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions.	21
21447491	2011	Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.	12
20801516	2011	Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.	11
18317528	2007	CRALBP is a highly prevalent autoantigen for human autoimmune uveitis.	10
14718298	2004	Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.	9

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)