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

Gene ID: 6017, updated on 12-Oct-2019

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
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

Genomic context

See RLBP1 in Genome Data Viewer
Location:
15q26.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (89209869..89223179, 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 abhydrolase domain containing 2 Neighboring gene high mobility group box 1 pseudogene 8 Neighboring gene vesicle-associated membrane protein-associated protein A pseudogene Neighboring gene FA complementation group I Neighboring gene DNA polymerase gamma, catalytic subunit Neighboring gene microRNA 6766

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 BioSystems

  • 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 ...
  • 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)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
Process Evidence Code Pubs
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
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
 
centrosome IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
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)

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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    89209869..89223179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521870.2XP_011520172.1  retinaldehyde-binding protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011520172.1

    UniProtKB/Swiss-Prot
    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_017022460.1XP_016877949.1  retinaldehyde-binding protein 1 isoform X1

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