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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6017
Gene name	Retinaldehyde binding protein 1
Gene symbol	RLBP1
Synonyms (NCBI Gene)	CRALBP
Chromosome	15
Chromosome location	15q26.1
Summary	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

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)

321

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic; Pathogenic	rs786205626	RCV001814088
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs786205626, rs137853290, rs2051568988	RCV001257813 RCV001257814 RCV001257812
Bothnia retinal dystrophy	Likely pathogenic; Pathogenic	rs1445909096, rs776260543, rs2150971257, rs2051527389, rs786205626, rs137853290, rs28933990, rs137853291, rs2505862930, rs2505863513, rs760650165, rs759505780	RCV005005223 RCV005005238 RCV005863551 RCV005002748 RCV000197318 RCV005003355 RCV000013978 RCV005003356 RCV003989021 RCV003990670 RCV005004266 RCV005004998
Newfoundland cone-rod dystrophy	Likely pathogenic; Pathogenic	rs1445909096, rs776260543, rs2150971257, rs2051527389, rs137853290, rs766278489, rs137853291, rs760650165, rs759505780	RCV005005223 RCV005005238 RCV005863551 RCV005002748 RCV005003355 RCV000013976 RCV005003356 RCV001800829 RCV002250719
Pigmentary retinal dystrophy	Likely pathogenic; Pathogenic	rs1445909096, rs776260543, rs2150971257, rs2051527389, rs786205626, rs137853290, rs137853291, rs760650165, rs151141842, rs759505780	RCV005005223 RCV005005238 RCV005863551 RCV005002748 RCV006270351 RCV000013973 RCV005003356 RCV005004266 RCV001029758 RCV003226426
Retinal disorder	Likely pathogenic; Pathogenic	rs137853291	RCV006253542
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2150968520, rs786205626, rs28933990, rs137853291, rs766675673, rs561618945	RCV004816886 RCV001075081 RCV003887865 RCV001073560 RCV001075338 RCV001073561
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs763694069, rs786205626, rs764825249, rs137853290, rs766278489, rs28933990, rs137853291, rs1567124404, rs762326108, rs2051588436, rs151141842, rs759505780	RCV005406280 RCV005237637 RCV003226663 RCV001731283 RCV005406741 RCV001003174 RCV000504975 RCV000786014 RCV000787877 RCV001199744 RCV001844262 RCV005235508
Retinitis punctata albescens	Likely pathogenic; Pathogenic	rs786205626, rs137853290, rs766278489, rs28933990, rs137853291, rs1567124404	RCV001003176 RCV000013974 RCV000013977 RCV000013979 RCV000013980 RCV000786014
RLBP1-related disorder	Likely pathogenic; Pathogenic	rs763694069, rs2051568716, rs137853290, rs28933990, rs137853291, rs760650165	RCV005868548 RCV004528662 RCV005867749 RCV000345884 RCV000394737 RCV000779175

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign; Likely benign	rs56307321	RCV005869211
Congenital stationary night blindness	Uncertain significance	rs139108078	RCV003324583
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs755688433	RCV004557920
Optic atrophy	Uncertain significance	rs913607874	RCV004815407
Retinitis Pigmentosa, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity	rs56307321, rs574201786, rs117193134, rs201588178	RCV000320481 RCV000289962 RCV000350882 RCV000369084
Uveal melanoma	Benign; Likely benign	rs56307321	RCV005869210

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)