U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 6017, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000326.5NP_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:139294
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:60117
      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_011521870.3XP_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:139294
      SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)
      smart01100
      Location:60117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
    2. XM_047432927.1XP_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_054378578.1XP_054234553.1  retinaldehyde-binding protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B2R667, P12271