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

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 HIV Life Cycle and Metabolism of fat-soluble vitamins. 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

Additional gene information for RLBP1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H089016 1.5 Ensembl ENCODE dbSUPER 10.7 +204.3 204272 2 ATF1 ZFP64 SIN3A ZNF2 GATA2 ELK1 ZNF143 FOS KLF7 ATF7 HAPLN3 RLBP1 AEN ENSG00000173867 MFGE8 GC15P089023 LOC100129942
GH15H088984 1.5 Ensembl ENCODE dbSUPER 10.4 +231.5 231504 10 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 GLIS2 GATA2 FOS ATF7 MFGE8 HAPLN3 RLBP1 LOC100129942 GC15P089023
GH15H089196 1.3 Ensembl ENCODE dbSUPER 11.9 +24.2 24245 1 SOX13 TFAP4 KLF1 SAP130 ZBTB21 NFIB INSM2 CEBPG RFX5 ZNF366 POLG RLBP1 FANCI RNU7-195P GC15P089197 GC15P089200 PIR60733
GH15H089001 1.5 Ensembl ENCODE dbSUPER 9.6 +218.7 218684 3 HDGF PKNOX1 TCF12 ZNF766 ELK1 FOS RUNX3 CAVIN1 REST ZNF592 MFGE8 HAPLN3 RLBP1 AEN LOC100129942 GC15P089023
GH15H089057 1.2 Ensembl ENCODE 10.8 +164.2 164209 0 ELF3 RB1 ARNT ARID4B SIN3A ZNF2 ZSCAN9 RAD21 GLIS2 ZNF143 ABHD2 RNU7-195P FANCI RLBP1 ENSG00000261407 LOC102724566 GC15M089074
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Post-translational modifications for RLBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RLBP1 Gene

Antibody Products

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

Suggested Antigen Peptide Sequences for RLBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for RLBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005502 11-cis retinal binding IEA --
GO:0016918 retinal binding IEA --
GO:0019841 retinol binding IEA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for RLBP1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RLBP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytosol 5
cytoskeleton 2
nucleus 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Centrosome (1)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RLBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol 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

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:0006810 transport IEA --
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 Target 511

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RLBP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for RLBP1 Gene



Protein tissue co-expression partners for RLBP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RLBP1 Gene:

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(4.4)
  • Eye(4.3)

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
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia RLBP1 33 34
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia RLBP1 33 34
  • 90.22 (n)
dog
(Canis familiaris)
Mammalia RLBP1 33 34
  • 88.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RLBP1 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rlbp1 33 16 34
  • 86.54 (n)
rat
(Rattus norvegicus)
Mammalia Rlbp1 33
  • 85.38 (n)
oppossum
(Monodelphis domestica)
Mammalia RLBP1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves RLBP1 33 34
  • 77.11 (n)
lizard
(Anolis carolinensis)
Reptilia RLBP1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rlbp1 33
  • 70.66 (n)
Str.5265 33
African clawed frog
(Xenopus laevis)
Amphibia rlbp1-prov 33
zebrafish
(Danio rerio)
Actinopterygii rlbp1b 34
  • 70 (a)
OneToMany
rlbp1a 34
  • 65 (a)
OneToMany
zgc73076 33
fruit fly
(Drosophila melanogaster)
Insecta CG5958 35 33
  • 49.04 (n)
CG10657 34
  • 23 (a)
ManyToMany
Cralbp 34
  • 23 (a)
ManyToMany
CG33514 34
  • 20 (a)
ManyToMany
CG30339 34
  • 19 (a)
ManyToMany
CG31636 34
  • 19 (a)
ManyToMany
CG33965 34
  • 19 (a)
ManyToMany
CG10300 34
  • 18 (a)
ManyToMany
CG3191 34
  • 18 (a)
ManyToMany
CG33966 34
  • 18 (a)
ManyToMany
pinta 34
  • 18 (a)
ManyToMany
CG11550 34
  • 17 (a)
ManyToMany
CG12926 34
  • 17 (a)
ManyToMany
CG2663 34
  • 17 (a)
ManyToMany
CG3823 34
  • 16 (a)
ManyToMany
CG3091 34
  • 15 (a)
ManyToMany
CG1902 34
  • 14 (a)
ManyToMany
CG10301 34
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10065 34
  • 42 (a)
OneToMany
-- 34
  • 40 (a)
OneToMany
CSA.7299 34
  • 38 (a)
OneToMany
Species where no ortholog for RLBP1 was found in the sources mined by GeneCards:
  • 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
rs137853291 Pathogenic, Retinitis punctata albescens (RPA) [MIM:136880] 89,211,750(-) GGACA(A/T)GCTCC reference, missense
rs28933989 Retinitis punctata albescens (RPA) [MIM:136880]
rs28933990 Pathogenic, Bothnia retinal dystrophy (BRD) [MIM:607475] 89,210,794(-) CAGCC(C/T)GGTTC reference, missense
rs137853290 Pathogenic 89,215,133(-) TAGTC(A/C/G)GGACA reference, missense
rs786205494 Likely pathogenic 89,210,721(-) CTTCT(G/T)GAAGA reference, missense

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)

Relevant External Links for RLBP1 Gene

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

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

Disorders for RLBP1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
bothnia retinal dystrophy
  • vasterbotten dystrophy
fundus albipunctatus
  • retinitis punctata albescens
newfoundland rod-cone dystrophy
  • newfoundland cone-rod dystrophy
rlbp1-related fundus albipunctatus
  • retinitis punctata albescens
retinitis pigmentosa, autosomal recessive, bothnia type
  • bothnia 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.
  • 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 MA … Denton MJ (Nature genetics 1997) 2 3 4 22 60
  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 22 60
  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 22 45 60
  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 22 60
  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 22 60

Products for RLBP1 Gene

Sources for RLBP1 Gene

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