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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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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
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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

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