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.... See more...

Aliases for RLBP1 Gene

Aliases for RLBP1 Gene

  • Retinaldehyde Binding Protein 1 2 3 5
  • Retinaldehyde-Binding Protein 1 2 3 4
  • CRALBP 2 3 4
  • Cellular Retinaldehyde-Binding Protein 3 4
  • Cellular Retinaldehyde-Binding Protein-1 3
  • RLBP1 5

External Ids for RLBP1 Gene

Previous GeneCards Identifiers for RLBP1 Gene

  • GC15M086092
  • GC15M083118
  • GC15M087340
  • GC15M087482
  • GC15M087554
  • GC15M089753
  • GC15M065865

Summaries for RLBP1 Gene

Entrez Gene Summary for RLBP1 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 rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]

GeneCards Summary for RLBP1 Gene

RLBP1 (Retinaldehyde Binding Protein 1) is a Protein Coding gene. Diseases associated with RLBP1 include Bothnia Retinal Dystrophy and Fundus Albipunctatus. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include transporter activity and 11-cis retinal binding. An important paralog of this gene is CLVS1.

UniProtKB/Swiss-Prot Summary for RLBP1 Gene

  • 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 in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.

Gene Wiki entry for RLBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RLBP1 Gene

Genomics for RLBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RLBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RLBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RLBP1

Top Transcription factor binding sites by QIAGEN in the RLBP1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • MIF-1
  • MyoD
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for RLBP1 Gene

Genomic Locations for RLBP1 Gene
chr15:89,209,869-89,223,179
(GRCh38/hg38)
Size:
13,311 bases
Orientation:
Minus strand
chr15:89,753,098-89,764,982
(GRCh37/hg19)
Size:
11,885 bases
Orientation:
Minus strand

Genomic View for RLBP1 Gene

Genes around RLBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RLBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RLBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RLBP1 Gene

Proteins for RLBP1 Gene

  • Protein details for RLBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12271-RLBP1_HUMAN
    Recommended name:
    Retinaldehyde-binding protein 1
    Protein Accession:
    P12271
    Secondary Accessions:
    • B2R667

    Protein attributes for RLBP1 Gene

    Size:
    317 amino acids
    Molecular mass:
    36474 Da
    Quaternary structure:
    • Interacts with DEGS1; the interaction increases synthesis of chromophore-precursors by DEGS1.

    Three dimensional structures from OCA and Proteopedia for RLBP1 Gene

neXtProt entry for RLBP1 Gene

Post-translational modifications for RLBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RLBP1 Gene

No data available for DME Specific Peptides for RLBP1 Gene

Domains & Families for RLBP1 Gene

Gene Families for RLBP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RLBP1 Gene

InterPro:
Blocks:
  • Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
  • Cellular retinaldehyde-binding protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for RLBP1 Gene

GenScript: Design optimal peptide antigens:
  • Cellular retinaldehyde-binding protein (RLBP1_HUMAN)
genes like me logo Genes that share domains with RLBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RLBP1 Gene

Function for RLBP1 Gene

Molecular function for RLBP1 Gene

UniProtKB/Swiss-Prot 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 in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
GENATLAS Biochemistry:
retinaldehyde binding protein,cellular

Phenotypes From GWAS Catalog for RLBP1 Gene

Gene Ontology (GO) - Molecular Function for RLBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005502 11-cis retinal binding IEA --
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IEA --
GO:1902936 phosphatidylinositol bisphosphate binding IBA 21873635
genes like me logo Genes that share ontologies with RLBP1: view
genes like me logo Genes that share phenotypes with RLBP1: view

Human Phenotype Ontology for RLBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RLBP1 Gene

MGI Knock Outs for RLBP1:
  • Rlbp1 Rlbp1<tm1Jsa>
  • Rlbp1 Rlbp1<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for RLBP1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RLBP1

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for RLBP1 Gene

Localization for RLBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RLBP1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RLBP1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RLBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol IDA,TAS --
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with RLBP1: view

Pathways & Interactions for RLBP1 Gene

genes like me logo Genes that share pathways with RLBP1: view

Pathways by source for RLBP1 Gene

1 Qiagen pathway for RLBP1 Gene
  • Visual Cycle in Retinal Rods

Gene Ontology (GO) - Biological Process for RLBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006776 vitamin A metabolic process TAS 9326942
GO:0007601 visual perception IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RLBP1: view

No data available for SIGNOR curated interactions for RLBP1 Gene

Drugs & Compounds for RLBP1 Gene

(2) Drugs for RLBP1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin A Approved, Vet_approved Nutra Carrier, binder 685

(7) Additional Compounds for RLBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RLBP1: view

Transcripts for RLBP1 Gene

mRNA/cDNA for RLBP1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RLBP1

Alternative Splicing Database (ASD) splice patterns (SP) for RLBP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
SP1: -
SP2: - - - -
SP3: -
SP4: -
SP5:

Relevant External Links for RLBP1 Gene

GeneLoc Exon Structure for
RLBP1

Expression for RLBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RLBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RLBP1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x7.4), Brain - Putamen (basal ganglia) (x7.1), Brain - Amygdala (x5.8), Brain - Cortex (x5.1), Brain - Nucleus accumbens (basal ganglia) (x5.0), and Brain - Frontal Cortex (BA9) (x4.9).

Protein differential expression in normal tissues from HIPED for RLBP1 Gene

This gene is overexpressed in Retina (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RLBP1 Gene



Protein tissue co-expression partners for RLBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RLBP1

SOURCE GeneReport for Unigene cluster for RLBP1 Gene:

Hs.1933

mRNA Expression by UniProt/SwissProt for RLBP1 Gene:

P12271-RLBP1_HUMAN
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.

Evidence on tissue expression from TISSUES for RLBP1 Gene

  • Nervous system(4.5)
  • Eye(4.4)
  • Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RLBP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with RLBP1: view

Orthologs for RLBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RLBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RLBP1 30 31
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RLBP1 30 31
  • 90.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RLBP1 30 31
  • 88.96 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RLBP1 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rlbp1 30 17 31
  • 86.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rlbp1 30
  • 85.38 (n)
Oppossum
(Monodelphis domestica)
Mammalia RLBP1 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RLBP1 30 31
  • 77.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RLBP1 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rlbp1 30
  • 70.66 (n)
Str.5265 30
African clawed frog
(Xenopus laevis)
Amphibia rlbp1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii rlbp1b 31
  • 70 (a)
OneToMany
rlbp1a 31
  • 65 (a)
OneToMany
zgc73076 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5958 30 32
  • 49.04 (n)
CG10657 31
  • 23 (a)
ManyToMany
Cralbp 31
  • 23 (a)
ManyToMany
CG33514 31
  • 20 (a)
ManyToMany
CG33965 31
  • 19 (a)
ManyToMany
CG31636 31
  • 19 (a)
ManyToMany
CG30339 31
  • 19 (a)
ManyToMany
pinta 31
  • 18 (a)
ManyToMany
CG10300 31
  • 18 (a)
ManyToMany
CG3191 31
  • 18 (a)
ManyToMany
CG33966 31
  • 18 (a)
ManyToMany
CG12926 31
  • 17 (a)
ManyToMany
CG11550 31
  • 17 (a)
ManyToMany
CG2663 31
  • 17 (a)
ManyToMany
CG3823 31
  • 16 (a)
ManyToMany
CG3091 31
  • 15 (a)
ManyToMany
CG1902 31
  • 14 (a)
ManyToMany
CG10301 31
  • 13 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10065 31
  • 42 (a)
OneToMany
-- 31
  • 40 (a)
OneToMany
CSA.7299 31
  • 38 (a)
OneToMany
Species where no ortholog for RLBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RLBP1 Gene

ENSEMBL:
Gene Tree for RLBP1 (if available)
TreeFam:
Gene Tree for RLBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RLBP1: view image

Paralogs for RLBP1 Gene

Paralogs for RLBP1 Gene

(5) SIMAP similar genes for RLBP1 Gene using alignment to 3 proteins:

  • RLBP1_HUMAN
  • H3BN92_HUMAN
  • H3BTN3_HUMAN
genes like me logo Genes that share paralogs with RLBP1: view

Variants for RLBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RLBP1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
636197 Likely Pathogenic: Retinitis pigmentosa 89,217,120(-) C/G MISSENSE_VARIANT
715784 Benign: not provided 89,215,222(-) C/T SYNONYMOUS_VARIANT
720750 Benign/Likely Benign: Retinitis pigmentosa; Pigmentary retinal dystrophy; Newfoundland rod-cone dystrophy; not provided 89,211,898(-) A/G SYNONYMOUS_VARIANT
728238 Conflicting Interpretations: not specified; not provided 89,218,967(-) T/G MISSENSE_VARIANT
739180 Likely Benign: not provided 89,210,303(-) A/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RLBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RLBP1 Gene

Variant ID Type Subtype PubMed ID
nsv1038140 CNV gain 25217958

Variation tolerance for RLBP1 Gene

Residual Variation Intolerance Score: 50.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 30.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RLBP1 Gene

Human Gene Mutation Database (HGMD)
RLBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RLBP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RLBP1 Gene

Disorders for RLBP1 Gene

MalaCards: The human disease database

(35) MalaCards diseases for RLBP1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bothnia retinal dystrophy
  • vasterbotten dystrophy
fundus albipunctatus
  • fa
newfoundland rod-cone dystrophy
  • nfrcd
retinitis pigmentosa
  • retinitis pigmentosa 1
fundus dystrophy
  • retinal dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search RLBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RLBP1_HUMAN
  • Bothnia retinal dystrophy (BRD) [MIM:607475]: A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. {ECO:0000269 PubMed:10102298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rod-cone dystrophy Newfoundland (NFRCD) [MIM:607476]: A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. {ECO:0000269 PubMed:11868161}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis punctata albescens (RPA) [MIM:136880]: A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. {ECO:0000269 PubMed:10102299, ECO:0000269 PubMed:11453974, ECO:0000269 PubMed:9326942}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RLBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RLBP1: view

No data available for Genatlas for RLBP1 Gene

Publications for RLBP1 Gene

  1. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. (PMID: 9326942) Maw MA … Denton MJ (Nature genetics 1997) 2 3 4 23
  2. Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. (PMID: 19846785) He X … Stocker A (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 23
  3. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. (PMID: 14718298) Fishman GA … Dryja TP (Archives of ophthalmology (Chicago, Ill. : 1960) 2004) 3 23 41
  4. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. (PMID: 11868161) Eichers ER … Katsanis N (American journal of human genetics 2002) 3 4 23
  5. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. (PMID: 11453974) Katsanis N … Lupski JR (Clinical genetics 2001) 3 4 23

Products for RLBP1 Gene

  • Signalway ELISA kits for RLBP1

Sources for RLBP1 Gene