RLBP1 (retinaldehyde binding protein 1)

Gene

• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 180090
• HGNC: 10024
• e!Ensembl: 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

Pathways

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the eye	Likely pathogenic; Pathogenic	rs786205626	RCV001814088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs786205626, rs137853290, rs2051568988	RCV001257813 RCV001257814 RCV001257812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs137853291	RCV006253542	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2150968520, rs786205626, rs28933990, rs137853291, rs766675673, rs561618945	RCV004816886 RCV001075081 RCV003887865 RCV001073560 RCV001075338 RCV001073561	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis punctata albescens	Likely pathogenic; Pathogenic	rs786205626, rs137853290, rs766278489, rs28933990, rs137853291, rs1567124404	RCV001003176 RCV000013974 RCV000013977 RCV000013979 RCV000013980 RCV000786014	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RLBP1-related disorder	Likely pathogenic; Pathogenic	rs763694069, rs2051568716, rs137853290, rs28933990, rs137853291, rs760650165	RCV005868548 RCV004528662 RCV005867749 RCV000345884 RCV000394737 RCV000779175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital stationary night blindness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASES, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	30742112		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Atrophoderma maculatum	Anetoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bothnia Retinal Dystrophy	Bothnia Retinal Dystrophy	UNIPROT_DG	10102298		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bothnia Retinal Dystrophy	Bothnia Retinal Dystrophy	ORPHANET_DG	10102298		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bothnia retinal dystrophy	Bothnia Retinal Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bothnia Retinal Dystrophy	Bothnia retinal dystrophy	Pubtator	19846785, 20238024, 22551409, 25429852	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bothnia Retinal Dystrophy	Bothnia Retinal Dystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bothnia Retinal Dystrophy	Bothnia Retinal Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bothnia Retinal Dystrophy	Bothnia Retinal Dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	22559933		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37883093	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31442488		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eye Diseases, Hereditary	Eye Diseases	CTD_human_DG	16968212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fundus Albipunctatus	Fundus Albipunctatus	UNIPROT_DG	10102299, 11453974, 9326942		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	ORPHANET_DG	10102299, 15234312, 15953459, 21447491		★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	BEFREE	11453974, 21447491, 25429852		★☆☆☆☆ Found in Text Mining only
Fundus albipunctatus	Fundus Albipunctatus	Orphanet			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fundus Albipunctatus	Fundus Albipunctatus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lenticonus	Lenticonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28813576, 29529059	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Edema, Cystoid	Cystoid macular edema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31336396		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	22551409	Associate	★☆☆☆☆ Found in Text Mining only
Newfoundland Rod-Cone Dystrophy	Newfoundland Rod-Cone Dystrophy	BEFREE	25429852		★☆☆☆☆ Found in Text Mining only
Newfoundland Rod-Cone Dystrophy	Newfoundland Rod-Cone Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Newfoundland Rod-Cone Dystrophy	Newfoundland Rod-Cone Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	39256350	Stimulate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	15234312, 22551409, 25429852		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	22551409	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	39256350	Inhibit	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	17065479		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis	Retinitis	LHGDN	14718298, 15953459		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	10102299		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11707779, 1973655, 25429852		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	11707779, 20238024, 25429852, 32587456, 33851411, 37883093, 9488687	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	11868161		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis punctata albescens	Retinitis Punctata Albescens	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	BEFREE	10102299, 11262646, 11453974, 14718298, 15234312, 15953459, 17065479, 22171637, 22559933, 23929416, 25429852, 28764803		★☆☆☆☆ Found in Text Mining only
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	ORPHANET_DG	10102299, 15234312, 15953459		★☆☆☆☆ Found in Text Mining only
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis punctata albescens (disorder)	Retinitis punctata albescens	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	1973655		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	BEFREE	1973655		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	LHGDN	18317528		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	25429852	Associate	★☆☆☆☆ Found in Text Mining only