Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6017
Gene name Gene Name - the full gene name approved by the HGNC.	Retinaldehyde binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RLBP1
Synonyms (NCBI Gene) Gene synonyms aliases	CRALBP
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe ro

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933990	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs137853290	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs137853291	A>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs138965708	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs144254383	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs151141842	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs181321141	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs760650165	A>G	Pathogenic, likely-pathogenic	Splice donor variant
rs762326108	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs786205494	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs786205626	GCAGGAAGAAGC>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs1379405913	GACTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567124404	T>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(23)

miRTarBase ID	miRNA	Experiments
MIRT1307793	hsa-miR-1224-5p	CLIP-seq
MIRT1307794	hsa-miR-3136-5p	CLIP-seq
MIRT1307795	hsa-miR-3150b-3p	CLIP-seq
MIRT1307796	hsa-miR-34b	CLIP-seq
MIRT1307797	hsa-miR-3646	CLIP-seq
MIRT1307798	hsa-miR-3662	CLIP-seq
MIRT1307799	hsa-miR-3915	CLIP-seq
MIRT1307800	hsa-miR-3941	CLIP-seq
MIRT1307801	hsa-miR-4251	CLIP-seq
MIRT1307802	hsa-miR-4436a	CLIP-seq
MIRT1307803	hsa-miR-4439	CLIP-seq
MIRT1307804	hsa-miR-4513	CLIP-seq
MIRT1307805	hsa-miR-466	CLIP-seq
MIRT1307806	hsa-miR-4672	CLIP-seq
MIRT1307807	hsa-miR-4689	CLIP-seq
MIRT1307808	hsa-miR-4731-3p	CLIP-seq
MIRT1307809	hsa-miR-4784	CLIP-seq
MIRT1307810	hsa-miR-4801	CLIP-seq
MIRT1307811	hsa-miR-520d-5p	CLIP-seq
MIRT1307812	hsa-miR-524-5p	CLIP-seq
MIRT1307813	hsa-miR-539	CLIP-seq
MIRT1307814	hsa-miR-548c-3p	CLIP-seq
MIRT1307815	hsa-miR-665	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005502	Function	11-cis retinal binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006776	Process	Vitamin A metabolic process	TAS	9326942
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9326942
GO:0019841	Function	Retinol binding	IEA
GO:0044297	Component	Cell body	IEA
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IBA

MIM	HGNC	e!Ensembl
180090	10024	ENSG00000140522

Protein

UniProt ID

P12271

Protein name

Retinaldehyde-binding protein 1 (Cellular retinaldehyde-binding protein)

Protein function

Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and i

PDB

3HX3 , 3HY5 , 4CIZ , 4CJ6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03765	CRAL_TRIO_N	16 → 116	CRAL/TRIO, N-terminal domain	Domain
PF00650	CRAL_TRIO	139 → 292	CRAL/TRIO domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Retina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina. {ECO:0000269|PubMed:19846785}.

Sequence

MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETRE
EAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNF
RLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAY
CFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHF
IHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKA
VAEQLFGPQAQAENTAF

Sequence length

317

Interactions

View interactions

	Reactome
			The retinoid cycle in cones (daylight vision) Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Retinal Dystrophy	Pigmentary retinal dystrophy	rs759505780, rs137853290, rs151141842	N/A
retinal dystrophy	Retinal dystrophy	rs137853291, rs766675673, rs786205626, rs561618945, rs28933990	N/A
Retinitis Pigmentosa	retinitis pigmentosa, Autosomal recessive retinitis pigmentosa	rs137853291, rs759505780, rs137853290, rs786205626, rs766278489, rs762326108, rs2051588436, rs28933990, rs151141842	N/A
Retinitis Punctata Albescens	retinitis punctata albescens	rs137853290, rs786205626, rs766278489, rs28933990, rs137853291	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ausems Wittebol Post Hennekam syndrome	Associate	25429852
Bothnia Retinal Dystrophy	Associate	19846785, 20238024, 22551409, 25429852
Congenital Abnormalities	Associate	37883093
Fundus Albipunctatus	Associate	15234312, 21447491, 22551409, 25429852, 28764803, 32587456, 32685789, 33801777, 34115091
Hamartoma Syndrome Multiple	Associate	37883093
Hypertensive Retinopathy	Associate	15234312
Inflammation	Stimulate	39256350
Macular Degeneration	Associate	28813576, 29529059
Neurodegenerative Diseases	Associate	22551409
Newfoundland Rod Cone Dystrophy	Associate	11868161, 25429852
Patterned dystrophy of retinal pigment epithelium	Stimulate	39256350
Retinal Diseases	Associate	22551409
Retinal Diseases	Inhibit	39256350
Retinal Dystrophies	Associate	11868161, 25429852, 37883093, 39256350
Retinitis	Associate	25429852
Retinitis Pigmentosa	Associate	11707779, 20238024, 25429852, 32587456, 33851411, 37883093, 9488687
Vision Disorders	Associate	25429852

RLBP1 (retinaldehyde binding protein 1)