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    RLBP1 retinaldehyde binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 6017, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RLBP1provided by HGNC
    Official Full Name
    retinaldehyde binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:10024
    See related
    Ensembl:ENSG00000140522 MIM:180090; AllianceGenome:HGNC:10024
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRALBP
    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]
    Expression
    Biased expression in brain (RPKM 1.2) and testis (RPKM 0.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See RLBP1 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89209869..89221579, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86964701..86976409, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89753100..89764810, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2, acylglycerol lipase Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89682791-89683292 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89683293-89683792 Neighboring gene high mobility group box 1 pseudogene 8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:89710497-89711696 Neighboring gene Sharpr-MPRA regulatory region 3557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89738102-89738602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89738603-89739103 Neighboring gene Sharpr-MPRA regulatory region 8523 Neighboring gene vesicle-associated membrane protein-associated protein A-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10045 Neighboring gene FA complementation group I Neighboring gene uncharacterized LOC124903548 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89848389-89848616 Neighboring gene POLG alternative reading frame Neighboring gene microRNA 6766 Neighboring gene DNA polymerase gamma, catalytic subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens. Richard AJ, et al. Ophthalmic Surg Lasers Imaging Retina, 2021 Aug. PMID 34410188
    2. A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. Scimone C, et al. Hum Genomics, 2017 Aug 1. PMID 28764803, Free PMC Article
    3. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. Hipp S, et al. Acta Ophthalmol, 2015 Jun. PMID 25429852
    4. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. Dessalces E, et al. JAMA Ophthalmol, 2013 Oct. PMID 23929416
    5. Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations. Burstedt M, et al. Acta Ophthalmol, 2013 Aug. PMID 22551409

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.
      Title: Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.
    2. Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
      Title: Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
    3. Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.
      Title: Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.
    4. Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.
      Title: Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.
    5. RLBP1 gene geographical area-related mutation is associated with retinitis punctata albescens.
      Title: A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.
    6. we provide evidence for an allosteric modulation of the enzymatic activity by 11-cis retinoids. This regulation is independent from cellular retinaldehyde-binding protein (CRALBP), the major cis-retinoid binding protein.
      Title: Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2.
    7. These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone.
      Title: Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.
    8. We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE.
      Title: Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium.
    9. Different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein.
      Title: Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
    10. RLBP1 gene is upregulated in patients with reactive retinal astrocytic tumors.
      Title: Retinal reactive astrocytic tumor: gene expression profiling.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bothnia retinal dystrophy
    MedGen: C1843816 OMIM: 607475 GeneReviews: Not available
    		Compare labs
    Newfoundland cone-rod dystrophy
    MedGen: C1843815 OMIM: 607476 GeneReviews: Not available
    		Compare labs
    Pigmentary retinal dystrophy
    MedGen: C0311338 OMIM: 136880 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3663

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 11-cis retinal binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables retinol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in response to stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vitamin A metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    retinaldehyde-binding protein 1
    Names
    cellular retinaldehyde-binding protein
    cellular retinaldehyde-binding protein-1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008116.1 RefSeqGene

      Range
      5113..16823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000326.5 → NP_000317.1  retinaldehyde-binding protein 1

      See identical proteins and their annotated locations for NP_000317.1

      Status: REVIEWED

      Source sequence(s)
      AC124068
      Consensus CDS
      CCDS32324.1
      UniProtKB/Swiss-Prot
      B2R667, P12271
      Related
      ENSP00000268125.5, ENST00000268125.10
      Conserved Domains (2) summary
      smart00516
      Location:139 → 294
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:60 → 117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89209869..89221579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521870.3 → XP_011520172.1  retinaldehyde-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011520172.1

      UniProtKB/Swiss-Prot
      B2R667, P12271
      Conserved Domains (2) summary
      smart00516
      Location:139 → 294
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:60 → 117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain

    2. XM_047432927.1 → XP_047288883.1  retinaldehyde-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R667, P12271

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      86964701..86976409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378578.1 → XP_054234553.1  retinaldehyde-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R667, P12271
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12271.2 GenPept UniProtKB/Swiss-Prot:P12271

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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