RLBP1 - retinaldehyde binding protein 1 Gene

Also Known as CRALBP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6017

About RLBP1

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,209,869-89,221,579 (from NCBI)

This gene has 4 transcripts (splice variants), 294 orthologues, 3 paralogues and is associated with 9 phenotypes. Biased expression in brain (RPKM 1.2) and testis (RPKM 0.1).

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 rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]

RLBP1 Products (1)

mRNA	Protein	Name
NM_000326.5	NP_000317.1	retinaldehyde-binding protein 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RLBP1 Protein Structure

CRAL_TRIO_N

CRAL_TRIO

0
100
200
300
317 a.a.

Protein Preferred Names	Protein Names
retinaldehyde-binding protein 1	cellular retinaldehyde-binding protein

RLBP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RLBP1	P12271	KLHL8	Homo sapiens	Q9P2G9-2	Y2H Prey Pooling	32296183
Intra	RLBP1	P12271	KLHL8	Homo sapiens	Q9P2G9-2	Validated Y2H	32296183
Intra	RLBP1	P12271	KLHL8	Homo sapiens	Q9P2G9-2	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

RLBP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81561	CRALBP Antibody (YA1306)	WB, IHC-P, IF-Tissue	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Bothnia Retinal Dystrophy	Vasterbotten Dystrophy BRD Dystrophy, Retinal, Bothnia
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Newfoundland Rod-Cone Dystrophy	Newfoundland Cone-Rod Dystrophy NFRCD Rod-Cone Dystrophy Newfoundland
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis
Preretinal Fibrosis	Cellophane Maculopathy Macular Puckering Of Retina Macular Retinal Puckering Epiretinal Membrane
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Retinal Degeneration	Degeneration Of Retina
Ocular Hypertension	Hypertension, Ocular Intraocular Pressure Increase Oh - [Ocular Hypertension] Oht - [Ocular Hypertension]
Night Blindness	Nyctalopia
Vitreous Disease	Disorder Of Vitreous Body
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Bestrophinopathy, Autosomal Recessive	Bestrophinopathy Autosomal Recessive Bestrophinopathy ARB Bestrophinopathies Retinopathy, Burgess-Black Type Retinopathy Burgess-Black Type
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Retinitis Pigmentosa 50	RP50 Retinitis Pigmentosa, Concentric Retinitis Pigmentosa-50 Retinitis Pigmentosa Concentric
Retinal Lattice Degeneration	Palisade Degeneration Of Retina Lattice Retinal Degeneration
Vitreous Detachment	Posterior Vitreous Detachment Vitreous Syneresis
Congenital Disorder Of Glycosylation, Type Iim	CDG2M Congenital Disorder Of Glycosylation Type Iim Slc35a2-Cdg Epileptic Encephalopathy, Early Infantile, 22 Cdg-Iim Cdg Iim Cdgiim Developmental And Epileptic Encephalopathy 22 Eiee22 Congenital Disorder Of Glycosylation Type 2m Cdg Syndrome Type Iim Dee22 Slc35a2-Congenital Disorder Of Glycosylation Epileptic Encephalopathy, Early Infantile, 22 Eiee22 Congenital Disorder Of Glycosylation 2m Congenital Disorder Of Glycosylation X-Linked Glycosylation, Congenital Disorder Of, Type Iim
Eye Degenerative Disease
Retinal Perforation	Retinal Break Retinal Perforations Retinal Dialysis Retinal Tear Retinal Break Nos Ruptured Retina
Vitreoretinochoroidopathy	Autosomal Dominant Vitreoretinochoroidopathy Advirc Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2 Vitreoretinochoroidopathy Dominant VRCP Vitreoretinochoroidopathy, Autosomal Dominant Vrcp Autosomal Dominant Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Solar Retinopathy	Solar Retinitis
Ocular Tuberculosis
Retinitis Pigmentosa 33	RP33 Retinitis Pigmentosa, Type 33
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Vitreoretinopathy, Neovascular Inflammatory	Proliferative Vitreoretinopathy Adniv Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy VRNI Pvr Neovascular Inflammatory Vitreoretinopathy Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant Retinitis Proliferans Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant Vitreoretinopathy Proliferative Vitreoretinopathy, Proliferative Proliferative Vitreo-Retinopathy
Autoimmune Disease Of Eyes, Ear, Nose And Throat
Macular Holes	Macular Hole
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Autoimmune Uveitis
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Bietti Crystalline Corneoretinal Dystrophy	BCD Bietti Crystalline Dystrophy Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy Bietti Crystalline Retinopathy Bietti'S Crystalline Dystrophy Crystalline Retinopathy Dystrophy, Corneoretinal, Crystalline, Bietti
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Doyne Honeycomb Retinal Dystrophy	DHRD Doyne Honeycomb Degeneration Of Retina Dhd Malattia Leventinese Ml Mlvt Dystrophy, Retinal, Doyne Honeycomb
Microphthalmia, Syndromic 9	Matthew-Wood Syndrome Spear Syndrome Anophthalmia/Microphthalmia And Pulmonary Hypoplasia Microphthalmia, Isolated, With Coloboma 8 MCOPS9 Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Pdac Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect Pmd Syndromic Microphthalmia 9 Anophthalmia-Pulmonary Hypoplasia Syndrome Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect Microphthalmia Syndromic 9 Matthew Wood Syndrome Pdac Syndrome Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome Microphthalmia, Isolated, With Coloboma, 8 MCOPCB8 Isolated Colobomatous Microphthalmia 8 Microphthalmia, Syndromic, 9 Anophthalmia With Pulmonary Hypoplasia Microphthalmia Syndromic, Type 9 Anophthalmia And Pulmonary Hypoplasia
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12006	RLBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RLBP1	RGD	RGD:1309649
Canis familiaris	RLBP1	VGNC	VGNC:45603
Bos taurus	RLBP1	VGNC	VGNC:33989
Mus musculus	RLBP1	MGD	MGI:97930
Felis catus	RLBP1	VGNC	VGNC:64646
Macaca mulatta	RLBP1	VGNC	VGNC:76698
Others	RLBP1	NCBI