Details for: RLBP1

Gene ID: 6017

Symbol: RLBP1

Ensembl ID: ENSG00000140522

Description: retinaldehyde binding protein 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 8.4646
    Cell Significance Index: 65.1200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.3976
    Cell Significance Index: 16.6600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.1893
    Cell Significance Index: 74.9600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.1097
    Cell Significance Index: 26.8800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.2388
    Cell Significance Index: 3.4800
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.2335
    Cell Significance Index: 2.8300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2064
    Cell Significance Index: 11.5800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1529
    Cell Significance Index: 8.0300
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.1086
    Cell Significance Index: 1.5300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.0844
    Cell Significance Index: 1.4600
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.0749
    Cell Significance Index: 0.6600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0620
    Cell Significance Index: 9.0100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0403
    Cell Significance Index: 0.6400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0361
    Cell Significance Index: 0.9000
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.0298
    Cell Significance Index: 0.3200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0076
    Cell Significance Index: 14.3400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0043
    Cell Significance Index: 2.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0013
    Cell Significance Index: -1.9300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0016
    Cell Significance Index: -3.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0026
    Cell Significance Index: -3.5200
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0030
    Cell Significance Index: -0.0200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0034
    Cell Significance Index: -0.0500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0039
    Cell Significance Index: -0.0300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0043
    Cell Significance Index: -0.8600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0047
    Cell Significance Index: -2.9400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0060
    Cell Significance Index: -3.8200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0062
    Cell Significance Index: -4.6200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0079
    Cell Significance Index: -4.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0084
    Cell Significance Index: -4.6000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0089
    Cell Significance Index: -4.0600
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: -0.0097
    Cell Significance Index: -0.0700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0108
    Cell Significance Index: -3.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0112
    Cell Significance Index: -3.2200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0144
    Cell Significance Index: -1.4700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0156
    Cell Significance Index: -3.0900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0178
    Cell Significance Index: -0.5000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0207
    Cell Significance Index: -3.7300
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.0215
    Cell Significance Index: -0.3000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0220
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0224
    Cell Significance Index: -4.7100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0239
    Cell Significance Index: -4.0800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0249
    Cell Significance Index: -3.2200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0332
    Cell Significance Index: -0.5600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0340
    Cell Significance Index: -4.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0358
    Cell Significance Index: -4.4100
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0380
    Cell Significance Index: -0.5800
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0411
    Cell Significance Index: -0.4800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0421
    Cell Significance Index: -4.8200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0426
    Cell Significance Index: -4.9700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0426
    Cell Significance Index: -2.6100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0455
    Cell Significance Index: -4.7400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0519
    Cell Significance Index: -3.8700
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0524
    Cell Significance Index: -0.4500
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0552
    Cell Significance Index: -1.3800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0592
    Cell Significance Index: -1.5800
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.0608
    Cell Significance Index: -0.5500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0620
    Cell Significance Index: -3.8100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0626
    Cell Significance Index: -1.6100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0654
    Cell Significance Index: -4.4000
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0663
    Cell Significance Index: -0.3500
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0665
    Cell Significance Index: -0.8400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0709
    Cell Significance Index: -5.4400
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0714
    Cell Significance Index: -0.8300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0718
    Cell Significance Index: -1.2300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0731
    Cell Significance Index: -3.4100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0774
    Cell Significance Index: -2.7200
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0774
    Cell Significance Index: -0.8000
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0823
    Cell Significance Index: -0.9300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0840
    Cell Significance Index: -2.4200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0854
    Cell Significance Index: -3.5000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0917
    Cell Significance Index: -4.7800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0951
    Cell Significance Index: -4.4700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0955
    Cell Significance Index: -2.3300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0960
    Cell Significance Index: -4.8500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0986
    Cell Significance Index: -0.6700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1033
    Cell Significance Index: -4.5700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1038
    Cell Significance Index: -1.7900
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.1045
    Cell Significance Index: -1.2100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1072
    Cell Significance Index: -2.6800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1108
    Cell Significance Index: -3.8800
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.1114
    Cell Significance Index: -1.2200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1176
    Cell Significance Index: -2.4400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1197
    Cell Significance Index: -1.4900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1203
    Cell Significance Index: -3.8100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1225
    Cell Significance Index: -4.6400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1238
    Cell Significance Index: -3.5500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1247
    Cell Significance Index: -3.9700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1277
    Cell Significance Index: -4.1800
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.1293
    Cell Significance Index: -1.4800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.1385
    Cell Significance Index: -1.3700
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.1402
    Cell Significance Index: -1.2400
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: -0.1451
    Cell Significance Index: -1.5500
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1474
    Cell Significance Index: -1.9700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1490
    Cell Significance Index: -3.1900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1507
    Cell Significance Index: -3.7600
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.1514
    Cell Significance Index: -1.8900
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.1563
    Cell Significance Index: -3.1800
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.1601
    Cell Significance Index: -2.1600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.1605
    Cell Significance Index: -2.5900
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.1636
    Cell Significance Index: -1.0100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** RLBP1 is a small, multifunctional protein that exhibits high affinity binding to 11-cis retinal. It is primarily expressed in cells of the retina, including photoreceptors, Müller cells, and macroglial cells. The protein's binding properties allow it to facilitate the regeneration of 11-cis retinal from all-trans retinal, a reaction catalyzed by the enzyme retinol dehydrogenase. This process is essential for the proper functioning of the visual cycle, as it enables the regeneration of rhodopsin and other visual pigments. RLBP1 also exhibits binding affinity to other retinoids, including retinol and retinaldehyde. **Pathways and Functions** RLBP1 is involved in several key pathways, including: 1. **Visual phototransduction**: RLBP1 plays a critical role in the regeneration of 11-cis retinal, which is necessary for the activation of rhodopsin and the initiation of the visual signal transduction pathway. 2. **Retinoid cycle**: RLBP1 is involved in the regeneration of 11-cis retinal from all-trans retinal, which is a key step in the retinoid cycle. 3. **Cellular stress response**: RLBP1 has been shown to be induced in response to cellular stress, suggesting a role in the regulation of cellular response to environmental changes. **Clinical Significance** Dysregulation of RLBP1 has been implicated in various retinal diseases, including: 1. **Retinitis pigmentosa**: A group of inherited disorders characterized by progressive loss of vision, often associated with mutations in the RLBP1 gene. 2. **Age-related macular degeneration**: A leading cause of vision loss in older adults, characterized by the accumulation of lipofuscin in the retina, which can be influenced by RLBP1 activity. 3. **Visual cycle disorders**: RLBP1 dysfunction has been linked to a range of visual cycle disorders, including Leber congenital amaurosis and retinal dystrophy. In conclusion, RLBP1 is a critical protein involved in the visual cycle, essential for the proper functioning of the retina. Dysregulation of RLBP1 has been implicated in various retinal diseases, highlighting the importance of this gene in maintaining retinal health. Further research into the mechanisms of RLBP1 function and its role in retinal disease will be essential for the development of new therapeutic strategies for the treatment of visual cycle disorders.

Genular Protein ID: 294840838

Symbol: RLBP1_HUMAN

Name: Retinaldehyde-binding protein 1

UniProtKB Accession Codes:

P12271 B2R667

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 2 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 5 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 2 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3198595

Title: Cloning of the cDNAs encoding the cellular retinaldehyde-binding protein from bovine and human retina and comparison of the protein structures.

PubMed ID: 3198595

DOI: 10.1016/s0021-9258(18)37339-3

PubMed ID: 7929238

Title: Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein.

PubMed ID: 7929238

DOI: 10.1016/s0021-9258(18)47265-1

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9541407

Title: Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein.

PubMed ID: 9541407

DOI: 10.1002/pro.5560070324

PubMed ID: 11868161

Title: Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

PubMed ID: 11868161

DOI: 10.1086/339688

PubMed ID: 19846785

Title: Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.

PubMed ID: 19846785

DOI: 10.1073/pnas.0907454106

PubMed ID: 9326942

Title: Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.

PubMed ID: 9326942

DOI: 10.1038/ng1097-198

PubMed ID: 10102298

Title: Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.

PubMed ID: 10102298

PubMed ID: 10102299

Title: Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.

PubMed ID: 10102299

PubMed ID: 11453974

Title: Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

PubMed ID: 11453974

DOI: 10.1034/j.1399-0004.2001.590607.x

Sequence Information:

  • Length: 317
  • Mass: 36474
  • Checksum: 80A3B0AE65FDA6EB
  • Sequence:
    • MSEGVGTFRM VPEEEQELRA QLEQLTTKDH GPVFGPCSQL PRHTLQKAKD ELNEREETRE 
EAVRELQEMV QAQAASGEEL AVAVAERVQE KDSGFFLRFI RARKFNVGRA YELLRGYVNF 
RLQYPELFDS LSPEAVRCTI EAGYPGVLSS RDKYGRVVML FNIENWQSQE ITFDEILQAY 
CFILEKLLEN EETQINGFCI IENFKGFTMQ QAASLRTSDL RKMVDMLQDS FPARFKAIHF 
IHQPWYFTTT YNVVKPFLKS KLLERVFVHG DDLSGFYQEI DENILPSDFG GTLPKYDGKA 
VAEQLFGPQA QAENTAF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.