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Aliases for RLBP1 Gene

Aliases for RLBP1 Gene

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

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 fundus albipunctatus and bothnia retinal dystrophy. Among its related pathways are Visual Cycle in Retinal Rods and Infectious disease. 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 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RLBP1 Gene

Genomics for RLBP1 Gene

Regulatory Elements for RLBP1 Gene

Enhancers for RLBP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RLBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RLBP1 Gene

Chromosome:
15
Start:
89,209,867 bp from pter
End:
89,221,909 bp from pter
Size:
12,043 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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RLBP1 Gene

neXtProt entry for RLBP1 Gene

Proteomics data for RLBP1 Gene at MOPED

Post-translational modifications for RLBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RLBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RLBP1 Gene

Domains & Families for RLBP1 Gene

Suggested Antigen Peptide Sequences for RLBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P12271

UniProtKB/Swiss-Prot:

RLBP1_HUMAN :
  • Contains 1 CRAL-TRIO domain.
Domain:
  • Contains 1 CRAL-TRIO domain.
genes like me logo Genes that share domains with RLBP1: view

No data available for Gene Families for RLBP1 Gene

Function for RLBP1 Gene

Molecular function for RLBP1 Gene

GENATLAS Biochemistry:
retinaldehyde binding protein,cellular
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.
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for RLBP1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RLBP1 Gene COMPARTMENTS Subcellular localization image for RLBP1 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2
extracellular 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for RLBP1 Gene

Pathways & Interactions for RLBP1 Gene

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

Gene Ontology (GO) - Biological Process for RLBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007603 phototransduction, visible light TAS --
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 Nutra Target 438

(8) 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

Unigene Clusters for RLBP1 Gene

Retinaldehyde binding protein 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
RLBP1

Expression for RLBP1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for RLBP1 Gene



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.
genes like me logo Genes that share expression patterns with RLBP1: view

Protein tissue co-expression partners for RLBP1 Gene

- Elite partner

Primer Products

Orthologs for RLBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RLBP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RLBP1 35
  • 90.22 (n)
  • 92.11 (a)
RLBP1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RLBP1 35
  • 88.96 (n)
  • 91.48 (a)
RLBP1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rlbp1 35
  • 86.54 (n)
  • 90.54 (a)
Rlbp1 16
Rlbp1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RLBP1 35
  • 99.58 (n)
  • 99.37 (a)
RLBP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rlbp1 35
  • 85.38 (n)
  • 90.85 (a)
oppossum
(Monodelphis domestica)
Mammalia RLBP1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RLBP1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RLBP1 35
  • 77.11 (n)
  • 78.16 (a)
RLBP1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RLBP1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rlbp1 35
  • 70.66 (n)
  • 75.39 (a)
Str.5265 35
African clawed frog
(Xenopus laevis)
Amphibia rlbp1-prov 35
zebrafish
(Danio rerio)
Actinopterygii zgc73076 35
rlbp1a 36
  • 65 (a)
OneToMany
rlbp1b 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5958 37
  • 30 (a)
CG5958 35
  • 49.04 (n)
  • 34.3 (a)
CG10300 36
  • 18 (a)
ManyToMany
CG10301 36
  • 13 (a)
ManyToMany
CG10657 36
  • 23 (a)
ManyToMany
CG11550 36
  • 17 (a)
ManyToMany
CG12926 36
  • 17 (a)
ManyToMany
CG1902 36
  • 14 (a)
ManyToMany
CG2663 36
  • 17 (a)
ManyToMany
CG30339 36
  • 19 (a)
ManyToMany
CG3091 36
  • 15 (a)
ManyToMany
CG31636 36
  • 19 (a)
ManyToMany
CG3191 36
  • 18 (a)
ManyToMany
CG33514 36
  • 20 (a)
ManyToMany
CG33965 36
  • 19 (a)
ManyToMany
CG33966 36
  • 18 (a)
ManyToMany
CG3823 36
  • 16 (a)
ManyToMany
Cralbp 36
  • 23 (a)
ManyToMany
pinta 36
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
CSA.10065 36
  • 42 (a)
OneToMany
CSA.7299 36
  • 38 (a)
OneToMany
Species with no ortholog for RLBP1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RLBP1 Gene

Paralogs for RLBP1 Gene

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

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

Variants for RLBP1 Gene

Sequence variations from dbSNP and Humsavar for RLBP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_005140 Retinitis punctata albescens (RPA)
rs28933990 Bothnia retinal dystrophy (BRD) 89,210,794(-) CAGCC(C/T)GGTTC reference, missense
VAR_037317 Retinitis punctata albescens (RPA)
rs834 -- 89,210,118(-) ATGGG(G/T)AATAA utr-variant-3-prime
rs2710 -- 89,209,989(-) TCTCA(A/G)TCATT utr-variant-3-prime

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)

Relevant External Links for RLBP1 Gene

HapMap Linkage Disequilibrium report
RLBP1
Human Gene Mutation Database (HGMD)
RLBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RLBP1 Gene

Disorders for RLBP1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for RLBP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fundus albipunctatus
  • retinitis punctata albescens
bothnia retinal dystrophy
  • vasterbotten dystrophy
newfoundland rod-cone dystrophy
  • rod-cone dystrophy newfoundland
retinitis pigmentosa, autosomal recessive, bothnia type
  • bothnia retinal dystrophy
rlbp1-related fundus albipunctatus
  • retinitis punctata albescens
- 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.
  • 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.
  • 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.

Relevant External Links for RLBP1

Genetic Association Database (GAD)
RLBP1
Human Genome Epidemiology (HuGE) Navigator
RLBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RLBP1
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 M.A. … Denton M.J. (Nat. Genet. 1997) 2 3 4 23 67
  2. Identification of the RLBP1 gene promoter. (PMID: 17652763) Vogel J.S. … Howard E.W. (Invest. Ophthalmol. Vis. Sci. 2007) 3 23 25
  3. Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7. (PMID: 1733864) Sparkes R.S. … Crabb J.W. (Genomics 1992) 2 3 23
  4. Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. (PMID: 19846785) He X. … Stocker A. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  5. Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. (PMID: 18344446) KAPhn L. … Golovleva I. (Invest. Ophthalmol. Vis. Sci. 2008) 3 23

Products for RLBP1 Gene

Sources for RLBP1 Gene

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