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Protein

Retinaldehyde-binding protein 1

Gene

RLBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei18011-cis-retinal1 Publication1
Binding sitei20211-cis-retinal1 Publication1

GO - Molecular functioni

GO - Biological processi

  • response to stimulus Source: UniProtKB-KW
  • retinoid metabolic process Source: Reactome
  • visual perception Source: ProtInc
  • vitamin A metabolic process Source: ProtInc

Keywordsi

Biological processSensory transduction, Transport, Vision
LigandRetinol-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000140522-MONOMER
ReactomeiR-HSA-2187335 The retinoid cycle in cones (daylight vision)
R-HSA-2453864 Retinoid cycle disease events
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Names & Taxonomyi

Protein namesi
Recommended name:
Retinaldehyde-binding protein 1
Alternative name(s):
Cellular retinaldehyde-binding protein
Gene namesi
Name:RLBP1
Synonyms:CRALBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140522.11
HGNCiHGNC:10024 RLBP1
MIMi180090 gene
neXtProtiNX_P12271

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Bothnia retinal dystrophy (BRD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration.
See also OMIM:607475
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015172234R → W in BRD. 1 PublicationCorresponds to variant dbSNP:rs28933990EnsemblClinVar.1
Rod-cone dystrophy Newfoundland (NFRCD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss.
See also OMIM:607476
Retinitis punctata albescens (RPA)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.
See also OMIM:136880
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005140151R → Q in RPA; loss of ability to bind 11-cis-retinaldehyde. 2 PublicationsCorresponds to variant dbSNP:rs137853290EnsemblClinVar.1
Natural variantiVAR_037317226M → K in RPA. 1 PublicationCorresponds to variant dbSNP:rs137853291EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6017
GeneReviewsiRLBP1
MalaCardsiRLBP1
MIMi136880 phenotype
607475 phenotype
607476 phenotype
OpenTargetsiENSG00000140522
Orphaneti85128 Bothnia retinal dystrophy
227796 Fundus albipunctatus
791 Retinitis pigmentosa
52427 Retinitis punctata albescens
PharmGKBiPA34397

Chemistry databases

DrugBankiDB00162 Vitamin A

Polymorphism and mutation databases

BioMutaiRLBP1
DMDMi117391

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00000793302 – 317Retinaldehyde-binding protein 1Add BLAST316

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiP12271
PeptideAtlasiP12271
PRIDEiP12271
ProteomicsDBi52841

PTM databases

iPTMnetiP12271
PhosphoSitePlusiP12271

Expressioni

Tissue specificityi

Retina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina.1 Publication

Gene expression databases

BgeeiENSG00000140522 Expressed in 62 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_RLBP1
ExpressionAtlasiP12271 baseline and differential
GenevisibleiP12271 HS

Organism-specific databases

HPAiHPA042051
HPA044083

Interactioni

Protein-protein interaction databases

BioGridi111949, 2 interactors
IntActiP12271, 1 interactor
STRINGi9606.ENSP00000268125

Structurei

Secondary structure

1317
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP12271
SMRiP12271
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP12271

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini136 – 297CRAL-TRIOPROSITE-ProRule annotationAdd BLAST162

Phylogenomic databases

eggNOGiKOG1471 Eukaryota
ENOG410XRSQ LUCA
GeneTreeiENSGT00550000074253
HOGENOMiHOG000059544
HOVERGENiHBG004720
InParanoidiP12271
KOiK19625
OMAiFHVGRAY
OrthoDBiEOG091G0KN0
PhylomeDBiP12271

Family and domain databases

CDDicd00170 SEC14, 1 hit
Gene3Di3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR011074 CRAL/TRIO_N_dom
IPR036273 CRAL/TRIO_N_dom_sf
IPR032941 RLBP1
PANTHERiPTHR10174:SF200 PTHR10174:SF200, 1 hit
PfamiView protein in Pfam
PF00650 CRAL_TRIO, 1 hit
PF03765 CRAL_TRIO_N, 1 hit
SMARTiView protein in SMART
SM01100 CRAL_TRIO_N, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF46938 SSF46938, 1 hit
SSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P12271-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSEGVGTFRM VPEEEQELRA QLEQLTTKDH GPVFGPCSQL PRHTLQKAKD
60 70 80 90 100
ELNEREETRE EAVRELQEMV QAQAASGEEL AVAVAERVQE KDSGFFLRFI
110 120 130 140 150
RARKFNVGRA YELLRGYVNF RLQYPELFDS LSPEAVRCTI EAGYPGVLSS
160 170 180 190 200
RDKYGRVVML FNIENWQSQE ITFDEILQAY CFILEKLLEN EETQINGFCI
210 220 230 240 250
IENFKGFTMQ QAASLRTSDL RKMVDMLQDS FPARFKAIHF IHQPWYFTTT
260 270 280 290 300
YNVVKPFLKS KLLERVFVHG DDLSGFYQEI DENILPSDFG GTLPKYDGKA
310
VAEQLFGPQA QAENTAF
Length:317
Mass (Da):36,474
Last modified:January 23, 2007 - v2
Checksum:i80A3B0AE65FDA6EB
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BN92H3BN92_HUMAN
Retinaldehyde-binding protein 1
RLBP1
108Annotation score:
H3BTN3H3BTN3_HUMAN
Retinaldehyde-binding protein 1
RLBP1
71Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005140151R → Q in RPA; loss of ability to bind 11-cis-retinaldehyde. 2 PublicationsCorresponds to variant dbSNP:rs137853290EnsemblClinVar.1
Natural variantiVAR_037317226M → K in RPA. 1 PublicationCorresponds to variant dbSNP:rs137853291EnsemblClinVar.1
Natural variantiVAR_015172234R → W in BRD. 1 PublicationCorresponds to variant dbSNP:rs28933990EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04213 mRNA Translation: AAA60251.1
L34219 Genomic DNA Translation: AAA65123.1
AK312457 mRNA Translation: BAG35364.1
CH471101 Genomic DNA Translation: EAX02038.1
BC004199 mRNA Translation: AAH04199.1
CCDSiCCDS32324.1
PIRiB31955
RefSeqiNP_000317.1, NM_000326.4
XP_011520172.1, XM_011521870.2
UniGeneiHs.1933

Genome annotation databases

EnsembliENST00000268125; ENSP00000268125; ENSG00000140522
GeneIDi6017
KEGGihsa:6017
UCSCiuc002bnl.4 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the RLBP1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04213 mRNA Translation: AAA60251.1
L34219 Genomic DNA Translation: AAA65123.1
AK312457 mRNA Translation: BAG35364.1
CH471101 Genomic DNA Translation: EAX02038.1
BC004199 mRNA Translation: AAH04199.1
CCDSiCCDS32324.1
PIRiB31955
RefSeqiNP_000317.1, NM_000326.4
XP_011520172.1, XM_011521870.2
UniGeneiHs.1933

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1XGGmodel-A67-295[»]
1XGHmodel-A67-295[»]
3HX3X-ray1.69A2-317[»]
3HY5X-ray3.04A2-317[»]
4CIZX-ray3.40A1-317[»]
4CJ6X-ray1.90A1-317[»]
ProteinModelPortaliP12271
SMRiP12271
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111949, 2 interactors
IntActiP12271, 1 interactor
STRINGi9606.ENSP00000268125

Chemistry databases

DrugBankiDB00162 Vitamin A

PTM databases

iPTMnetiP12271
PhosphoSitePlusiP12271

Polymorphism and mutation databases

BioMutaiRLBP1
DMDMi117391

Proteomic databases

PaxDbiP12271
PeptideAtlasiP12271
PRIDEiP12271
ProteomicsDBi52841

Protocols and materials databases

DNASUi6017
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268125; ENSP00000268125; ENSG00000140522
GeneIDi6017
KEGGihsa:6017
UCSCiuc002bnl.4 human

Organism-specific databases

CTDi6017
DisGeNETi6017
EuPathDBiHostDB:ENSG00000140522.11
GeneCardsiRLBP1
GeneReviewsiRLBP1
HGNCiHGNC:10024 RLBP1
HPAiHPA042051
HPA044083
MalaCardsiRLBP1
MIMi136880 phenotype
180090 gene
607475 phenotype
607476 phenotype
neXtProtiNX_P12271
OpenTargetsiENSG00000140522
Orphaneti85128 Bothnia retinal dystrophy
227796 Fundus albipunctatus
791 Retinitis pigmentosa
52427 Retinitis punctata albescens
PharmGKBiPA34397
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1471 Eukaryota
ENOG410XRSQ LUCA
GeneTreeiENSGT00550000074253
HOGENOMiHOG000059544
HOVERGENiHBG004720
InParanoidiP12271
KOiK19625
OMAiFHVGRAY
OrthoDBiEOG091G0KN0
PhylomeDBiP12271

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000140522-MONOMER
ReactomeiR-HSA-2187335 The retinoid cycle in cones (daylight vision)
R-HSA-2453864 Retinoid cycle disease events
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)

Miscellaneous databases

ChiTaRSiRLBP1 human
EvolutionaryTraceiP12271
GeneWikiiRetinaldehyde-binding_protein_1
GenomeRNAii6017
PROiPR:P12271
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140522 Expressed in 62 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_RLBP1
ExpressionAtlasiP12271 baseline and differential
GenevisibleiP12271 HS

Family and domain databases

CDDicd00170 SEC14, 1 hit
Gene3Di3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR011074 CRAL/TRIO_N_dom
IPR036273 CRAL/TRIO_N_dom_sf
IPR032941 RLBP1
PANTHERiPTHR10174:SF200 PTHR10174:SF200, 1 hit
PfamiView protein in Pfam
PF00650 CRAL_TRIO, 1 hit
PF03765 CRAL_TRIO_N, 1 hit
SMARTiView protein in SMART
SM01100 CRAL_TRIO_N, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF46938 SSF46938, 1 hit
SSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRLBP1_HUMAN
AccessioniPrimary (citable) accession number: P12271
Secondary accession number(s): B2R667
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 170 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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