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

    Gene ID: 6017, updated on 26-Jun-2015
    Official Symbol
    RLBP1provided by HGNC
    Official Full Name
    retinaldehyde binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:10024
    See related
    Ensembl:ENSG00000140522; HPRD:01572; MIM:180090; Vega:OTTHUMG00000172884
    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]
    Orthologs
    See RLBP1 in Epigenomics, MapViewer
    Location:
    15q26
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (89209867..89221909, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89753098..89764922, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376732 Neighboring gene abhydrolase domain containing 2 Neighboring gene high mobility group box 1 pseudogene 8 Neighboring gene Fanconi anemia, complementation group I Neighboring gene polymerase (DNA directed), gamma Neighboring gene microRNA 6766

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
      Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Retinoid cycle disease events, organism-specific biosystem (from REACTOME)
      Retinoid cycle disease events, organism-specific biosystemThe gene defects which cause diseases related to the retinoid cycle are described here (Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
      The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
    • The retinoid cycle in cones (daylight vision), organism-specific biosystem (from REACTOME)
      The retinoid cycle in cones (daylight vision), organism-specific biosystemRods and cones share the same mechanism for the phototransduction process but perform functionally different roles. Although cone photoreceptors make up around 5% of all photoreceptor cells and are o...
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    • Vitamin A and Carotenoid Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin A and Carotenoid Metabolism, organism-specific biosystemThis pathway is about carotenoid and vitamin A metabolism. The initial version was created by the NuGO focusteam on Carotenoid metabolism. It was used to test a text mining workflow which added some ...
    • Vitamin A and carotenoid metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin A and carotenoid metabolism, organism-specific biosystemThis pathway is about carotenoid and vitamin A metabolism. The initial version was created by the NuGO focusteam on Carotenoid metabolism. It was used to test a text mining workflow which added some ...
    • the visual cycle I (vertebrates), conserved biosystem (from BIOCYC)
      the visual cycle I (vertebrates), conserved biosystemGeneral background The source of the chromophore in the visual system is |FRAME: CPD-13524|, derived from the blood circulation (see |FRAME: PWY-6857| for its synthesis). The compound is taken up fr...
    • the visual cycle I (vertebrates), organism-specific biosystem (from BIOCYC)
      the visual cycle I (vertebrates), organism-specific biosystem
      the visual cycle I (vertebrates)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC3663

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    11-cis retinal binding IEA
    Inferred from Electronic Annotation
    more info
     
    retinol binding IEA
    Inferred from Electronic Annotation
    more info
     
    transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    phototransduction, visible light TAS
    Traceable Author Statement
    more info
     
    retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin A metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell body IEA
    Inferred from Electronic Annotation
    more info
     
    cellular_component ND
    No biological Data available
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    retinaldehyde-binding protein 1
    Names
    retinaldehyde-binding protein 1
    cellular retinaldehyde-binding protein
    cellular retinaldehyde-binding protein-1

    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
      5001..16825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000326.4NP_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
      P12271
      Related
      ENSP00000268125, OTTHUMP00000249621, ENST00000268125, OTTHUMT00000421135
      Conserved Domains (2) summary
      smart01100
      Location:60117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:146292
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      89209867..89221909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521870.1XP_011520172.1  

      See identical proteins and their annotated locations for XP_011520172.1

      Conserved Domains (2) summary
      smart01100
      Location:60117
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:146292
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    2. XM_011521872.1XP_011520174.1  

      See identical proteins and their annotated locations for XP_011520174.1

      Conserved Domains (2) summary
      smart01100
      Location:3592
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121267
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    3. XM_011521871.1XP_011520173.1  

      See identical proteins and their annotated locations for XP_011520173.1

      Conserved Domains (2) summary
      smart01100
      Location:3592
      CRAL_TRIO_N; CRAL/TRIO, N-terminal domain
      cd00170
      Location:121267
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      89594080..89605905
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)