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Aliases for RLBP1 Gene

Aliases for RLBP1 Gene

  • Retinaldehyde Binding Protein 1 2 3
  • 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

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 newfoundland rod-cone dystrophy and bothnia retinal dystrophy. Among its related pathways are Signaling by GPCR and 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

Genomic Location for RLBP1 Gene

Start:
89,209,867 bp from pter
End:
89,221,751 bp from pter
Size:
11,885 bases
Orientation:
Minus strand

Genomic View for RLBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RLBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RLBP1 Gene

Regulatory Elements 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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RLBP1 Gene

Domains for RLBP1 Gene

UniProtKB/Swiss-Prot:

RLBP1_HUMAN
Domain:
  • Contains 1 CRAL-TRIO domain.:
    • P12271
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.

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:0019841 retinol binding IEA --
genes like me logo Genes that share ontologies with RLBP1: view

Phenotypes for RLBP1 Gene

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

Animal Models for RLBP1 Gene

MGI Knock Outs for RLBP1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 4
cytoskeleton 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RLBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
GO:0044297 cell body IEA --
genes like me logo Genes that share ontologies with RLBP1: view

Pathways for RLBP1 Gene

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

Pathways by source for RLBP1 Gene

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:0007603 phototransduction, visible light TAS --
genes like me logo Genes that share ontologies with RLBP1: view

Compounds for RLBP1 Gene

(1) Drugbank Compounds for RLBP1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(10) Novoseek inferred chemical compound relationships for RLBP1 Gene

Compound -log(P) Hits PubMed IDs
11-cis-retinol 95.7 15
retinaldehyde 92.5 19
retinoid 73.1 19
vitamin a 64.1 13
retinoic acid 34.6 2
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) (7.4), Brain - Putamen (basal ganglia) (7.1), Brain - Amygdala (5.8), Brain - Cortex (5.1), Brain - Nucleus accumbens (basal ganglia) (5.0), and Brain - Frontal Cortex (BA9) (4.9).

Integrated Proteomics: protein expression 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 expressions 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 36
  • 99.58 (n)
  • 99.37 (a)
RLBP1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RLBP1 36
  • 90.22 (n)
  • 92.11 (a)
RLBP1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RLBP1 36
  • 88.96 (n)
  • 91.48 (a)
RLBP1 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rlbp1 36
  • 86.54 (n)
  • 90.54 (a)
Rlbp1 16
Rlbp1 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RLBP1 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RLBP1 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rlbp1 36
  • 85.38 (n)
  • 90.85 (a)
chicken
(Gallus gallus)
Aves RLBP1 36
  • 77.11 (n)
  • 78.16 (a)
RLBP1 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RLBP1 37
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rlbp1-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia rlbp1 36
  • 70.66 (n)
  • 75.39 (a)
Str.5265 36
zebrafish
(Danio rerio)
Actinopterygii rlbp1a 37
  • 65 (a)
OneToMany
rlbp1b 37
  • 70 (a)
OneToMany
zgc73076 36
fruit fly
(Drosophila melanogaster)
Insecta CG10300 37
  • 18 (a)
ManyToMany
CG10301 37
  • 13 (a)
ManyToMany
CG10657 37
  • 23 (a)
ManyToMany
CG11550 37
  • 17 (a)
ManyToMany
CG12926 37
  • 17 (a)
ManyToMany
CG1902 37
  • 14 (a)
ManyToMany
CG2663 37
  • 17 (a)
ManyToMany
CG30339 37
  • 19 (a)
ManyToMany
CG3091 37
  • 15 (a)
ManyToMany
CG31636 37
  • 19 (a)
ManyToMany
CG3191 37
  • 18 (a)
ManyToMany
CG33514 37
  • 20 (a)
ManyToMany
CG33965 37
  • 19 (a)
ManyToMany
CG33966 37
  • 18 (a)
ManyToMany
CG3823 37
  • 16 (a)
ManyToMany
CG5958 36
  • 49.04 (n)
  • 34.3 (a)
Cralbp 37
  • 23 (a)
ManyToMany
pinta 37
  • 18 (a)
ManyToMany
CG5958 38
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToMany
CSA.10065 37
  • 42 (a)
OneToMany
CSA.7299 37
  • 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

Selected 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 MAF
rs834 -- 89,210,118(-) ATGGG(G/T)AATAA utr-variant-3-prime
rs2710 -- 89,209,989(-) TCTCA(A/G)TCATT utr-variant-3-prime
rs950540 -- 89,211,633(-) CTCGC(A/G)CCATA intron-variant
rs950541 -- 89,211,723(-) TCTGT(C/T)GCACG intron-variant
rs979170 -- 89,212,345(-) ctcgg(C/T)ctccc intron-variant

Relevant External Links for RLBP1 Gene

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

No data available for Structural Variations from Database of Genomic Variants (DGV) for RLBP1 Gene

Disorders for RLBP1 Gene

(3) OMIM Diseases for RLBP1 Gene (180090)

UniProtKB/Swiss-Prot

RLBP1_HUMAN
  • Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:9326942}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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]: Rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for RLBP1 Gene

Disease -log(P) Hits PubMed IDs
retinitis 78.6 14
retinitis pigmentosa 77.5 15
retinal degeneration 65.4 2
epiretinal membrane 49.9 1
retinopathy 35.7 2

Relevant External Links for RLBP1

Genetic Association Database (GAD)
RLBP1
Human Genome Epidemiology (HuGE) Navigator
RLBP1
genes like me logo Genes that share disorders with RLBP1: view

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
  2. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. (PMID: 11868161) Eichers E.R. … Katsanis N. (Am. J. Hum. Genet. 2002) 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 G.A. … Dryja T.P. (Arch. Ophthalmol. 2004) 3 23 49
  4. 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
  5. Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. (PMID: 7929238) Intres R. … Crabb J.W. (J. Biol. Chem. 1994) 3 4 23

Products for RLBP1 Gene

  • antibodies-online proteins for RLBP1
  • antibodies-online antibodies for RLBP1
  • antibodies-online kits for RLBP1

Sources for RLBP1 Gene

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