U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 6017, updated on 1-Mar-2024

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