1. Gene
  2. RLBP1 - retinaldehyde binding protein 1 Gene

RLBP1 - retinaldehyde binding protein 1 Gene

Homo sapiens

Also known as CRALBP

Gene ID: 6017 | Gene type: protein coding

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

RLBP1 Protein Structure

CRAL_TRIO_N

CRAL_TRIO_N: CRAL/TRIO, N-terminal domain (17 - 115)

CRAL_TRIO

CRAL_TRIO: CRAL/TRIO domain (140 - 292)

  • 0
  • 100
  • 200
  • 317 a.a.
Protein Preferred Names Protein Names

retinaldehyde-binding protein 1

cellular retinaldehyde-binding protein

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

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