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Protein

Retinol-binding protein 3

Gene

RBP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.

GO - Molecular functioni

GO - Biological processi

  • lipid metabolic process Source: ProtInc
  • retinoid metabolic process Source: Reactome
  • transport Source: UniProtKB-KW
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Vitamin A

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000107618-MONOMER.
ZFISH:ENSG00000107618-MONOMER.
ZFISH:ENSG00000166426-MONOMER.
ReactomeiR-HSA-2187335. The retinoid cycle in cones (daylight vision).
R-HSA-2453902. The canonical retinoid cycle in rods (twilight vision).

Protein family/group databases

MEROPSiS41.950.

Names & Taxonomyi

Protein namesi
Recommended name:
Retinol-binding protein 3
Alternative name(s):
Interphotoreceptor retinoid-binding protein
Short name:
IRBP
Interstitial retinol-binding protein
Gene namesi
Name:RBP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:9921. RBP3.

Subcellular locationi

GO - Cellular componenti

  • cone matrix sheath Source: GO_Central
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • extracellular vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 66 (RP66)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:615233
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0697061080D → N in RP66; abolishes secretion; results in mis-folded insoluble complexes degraded via the ER-associated protein catabolic process. 2 PublicationsCorresponds to variant rs146150511dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi5949.
MalaCardsiRBP3.
MIMi615233. phenotype.
OpenTargetsiENSG00000265203.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34288.

Chemistry databases

DrugBankiDB00162. Vitamin A.

Polymorphism and mutation databases

BioMutaiRBP3.
DMDMi124894.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 171 PublicationAdd BLAST17
ChainiPRO_000002152318 – 1247Retinol-binding protein 3Add BLAST1230

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi205N-linked (GlcNAc...)Sequence analysis1
Glycosylationi515N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP10745.
PeptideAtlasiP10745.
PRIDEiP10745.

PTM databases

iPTMnetiP10745.
PhosphoSitePlusiP10745.

Expressioni

Gene expression databases

BgeeiENSG00000107618.
CleanExiHS_RBP3.
GenevisibleiP10745. HS.

Organism-specific databases

HPAiCAB013080.

Interactioni

Protein-protein interaction databases

BioGridi111883. 1 interactor.
STRINGi9606.ENSP00000224600.

Structurei

3D structure databases

ProteinModelPortaliP10745.
SMRiP10745.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati18 – 3201Add BLAST303
Repeati321 – 6302Add BLAST310
Repeati631 – 9313Add BLAST301
Repeati932 – 12304Add BLAST299

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni18 – 12304 X approximate tandem repeatsAdd BLAST1213

Sequence similaritiesi

Belongs to the peptidase S41A family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IJZP. Eukaryota.
ENOG4111K6J. LUCA.
GeneTreeiENSGT00390000014726.
HOGENOMiHOG000139907.
HOVERGENiHBG006175.
InParanoidiP10745.
OMAiCSYFFDE.
OrthoDBiEOG091G01EO.
PhylomeDBiP10745.
TreeFamiTF332253.

Family and domain databases

Gene3Di3.90.226.10. 4 hits.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR032956. RBP3.
IPR005151. Tail-specific_protease.
[Graphical view]
PANTHERiPTHR11261:SF3. PTHR11261:SF3. 1 hit.
PfamiPF03572. Peptidase_S41. 4 hits.
[Graphical view]
SMARTiSM00245. TSPc. 4 hits.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 4 hits.

Sequencei

Sequence statusi: Complete.

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

P10745-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMREWVLLMS VLLCGLAGPT HLFQPSLVLD MAKVLLDNYC FPENLLGMQE
60 70 80 90 100
AIQQAIKSHE ILSISDPQTL ASVLTAGVQS SLNDPRLVIS YEPSTPEPPP
110 120 130 140 150
QVPALTSLSE EELLAWLQRG LRHEVLEGNV GYLRVDSVPG QEVLSMMGEF
160 170 180 190 200
LVAHVWGNLM GTSALVLDLR HCTGGQVSGI PYIISYLHPG NTILHVDTIY
210 220 230 240 250
NRPSNTTTEI WTLPQVLGER YGADKDVVVL TSSQTRGVAE DIAHILKQMR
260 270 280 290 300
RAIVVGERTG GGALDLRKLR IGESDFFFTV PVSRSLGPLG GGSQTWEGSG
310 320 330 340 350
VLPCVGTPAE QALEKALAIL TLRSALPGVV HCLQEVLKDY YTLVDRVPTL
360 370 380 390 400
LQHLASMDFS TVVSEEDLVT KLNAGLQAAS EDPRLLVRAI GPTETPSWPA
410 420 430 440 450
PDAAAEDSPG VAPELPEDEA IRQALVDSVF QVSVLPGNVG YLRFDSFADA
460 470 480 490 500
SVLGVLAPYV LRQVWEPLQD TEHLIMDLRH NPGGPSSAVP LLLSYFQGPE
510 520 530 540 550
AGPVHLFTTY DRRTNITQEH FSHMELPGPR YSTQRGVYLL TSHRTATAAE
560 570 580 590 600
EFAFLMQSLG WATLVGEITA GNLLHTRTVP LLDTPEGSLA LTVPVLTFID
610 620 630 640 650
NHGEAWLGGG VVPDAIVLAE EALDKAQEVL EFHQSLGALV EGTGHLLEAH
660 670 680 690 700
YARPEVVGQT SALLRAKLAQ GAYRTAVDLE SLASQLTADL QEVSGDHRLL
710 720 730 740 750
VFHSPGELVV EEAPPPPPAV PSPEELTYLI EALFKTEVLP GQLGYLRFDA
760 770 780 790 800
MAELETVKAV GPQLVRLVWQ QLVDTAALVI DLRYNPGSYS TAIPLLCSYF
810 820 830 840 850
FEAEPRQHLY SVFDRATSKV TEVWTLPQVA GQRYGSHKDL YILMSHTSGS
860 870 880 890 900
AAEAFAHTMQ DLQRATVIGE PTAGGALSVG IYQVGSSPLY ASMPTQMAMS
910 920 930 940 950
ATTGKAWDLA GVEPDITVPM SEALSIAQDI VALRAKVPTV LQTAGKLVAD
960 970 980 990 1000
NYASAELGAK MATKLSGLQS RYSRVTSEVA LAEILGADLQ MLSGDPHLKA
1010 1020 1030 1040 1050
AHIPENAKDR IPGIVPMQIP SPEVFEELIK FSFHTNVLED NIGYLRFDMF
1060 1070 1080 1090 1100
GDGELLTQVS RLLVEHIWKK IMHTDAMIID MRFNIGGPTS SIPILCSYFF
1110 1120 1130 1140 1150
DEGPPVLLDK IYSRPDDSVS ELWTHAQVVG ERYGSKKSMV ILTSSVTAGT
1160 1170 1180 1190 1200
AEEFTYIMKR LGRALVIGEV TSGGCQPPQT YHVDDTNLYL TIPTARSVGA
1210 1220 1230 1240
SDGSSWEGVG VTPHVVVPAE EALARAKEML QHNQLRVKRS PGLQDHL
Length:1,247
Mass (Da):135,363
Last modified:November 1, 1991 - v2
Checksum:i6C1841411E012E0F
GO

Sequence cautioni

The sequence AAC18875 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti757V → G in BAJ84061 (PubMed:21697133).Curated1
Sequence conflicti757V → G in AAH39844 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06966918G → V.1 Publication1
Natural variantiVAR_069670122R → H.1 Publication1
Natural variantiVAR_069671155V → M.1 Publication1
Natural variantiVAR_069672163S → P.1 Publication1
Natural variantiVAR_069673196V → M.1 PublicationCorresponds to variant rs782398712dbSNPEnsembl.1
Natural variantiVAR_069674267R → Q.1 Publication1
Natural variantiVAR_069675282V → M.1 Publication1
Natural variantiVAR_069676321T → I.1 Publication1
Natural variantiVAR_069677325A → T.1 PublicationCorresponds to variant rs796065324dbSNPEnsembl.1
Natural variantiVAR_069678346R → H.1 PublicationCorresponds to variant rs111245635dbSNPEnsembl.1
Natural variantiVAR_069679379A → T.1 Publication1
Natural variantiVAR_069680433S → L.1 Publication1
Natural variantiVAR_069681443R → S.1 Publication1
Natural variantiVAR_069682505H → L.1 PublicationCorresponds to variant rs201808774dbSNPEnsembl.1
Natural variantiVAR_069683518Q → R.1 Publication1
Natural variantiVAR_069684523H → Q.1 PublicationCorresponds to variant rs148093336dbSNPEnsembl.1
Natural variantiVAR_035929530R → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_069685535R → C.1 Publication1
Natural variantiVAR_069686544R → H.1 Publication1
Natural variantiVAR_069687593V → A.1 Publication1
Natural variantiVAR_069688599I → V.1 Publication1
Natural variantiVAR_069689614D → N.1 Publication1
Natural variantiVAR_069690615A → V.1 Publication1
Natural variantiVAR_069691675T → I.1 Publication1
Natural variantiVAR_069692688A → V.1 Publication1
Natural variantiVAR_069693693V → M.1 Publication1
Natural variantiVAR_069694723P → L.1 Publication1
Natural variantiVAR_069695741G → S.1 Publication1
Natural variantiVAR_069696747R → C.1 PublicationCorresponds to variant rs782664364dbSNPEnsembl.1
Natural variantiVAR_069697785N → K.1 Publication1
Natural variantiVAR_069698833R → C.1 PublicationCorresponds to variant rs142945423dbSNPEnsembl.1
Natural variantiVAR_069699835G → S.1 Publication1
Natural variantiVAR_051315884V → M.1 PublicationCorresponds to variant rs11204213dbSNPEnsembl.1
Natural variantiVAR_069700903T → R.1 PublicationCorresponds to variant rs373766942dbSNPEnsembl.1
Natural variantiVAR_069701921S → R.1 PublicationCorresponds to variant rs548622709dbSNPEnsembl.1
Natural variantiVAR_069702956E → K.1 Publication1
Natural variantiVAR_069703963T → I.1 PublicationCorresponds to variant rs200706310dbSNPEnsembl.1
Natural variantiVAR_0697041021S → Y.1 Publication1
Natural variantiVAR_0697051059V → I.1 Publication1
Natural variantiVAR_0697061080D → N in RP66; abolishes secretion; results in mis-folded insoluble complexes degraded via the ER-associated protein catabolic process. 2 PublicationsCorresponds to variant rs146150511dbSNPEnsembl.1
Natural variantiVAR_0697071194T → M.1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M33875
, M33864, M33865, M33866 Genomic DNA. Translation: AAA59453.1.
M22453 mRNA. Translation: AAA36126.1.
J05253 Genomic DNA. Translation: AAC18875.1. Different initiation.
AB593121 mRNA. Translation: BAJ84061.1.
AL731561 Genomic DNA. Translation: CAH74045.1.
CH471251 Genomic DNA. Translation: EAW50659.1.
BC039844 mRNA. Translation: AAH39844.1.
J03912 mRNA. Translation: AAA59188.1.
X53044 Genomic DNA. Translation: CAA37213.1.
DQ426897 mRNA. Translation: ABD90548.1.
CCDSiCCDS73119.1.
PIRiA33812.
RefSeqiNP_002891.1. NM_002900.2.
UniGeneiHs.591928.

Genome annotation databases

EnsembliENST00000584701; ENSP00000463151; ENSG00000265203.
GeneIDi5949.
KEGGihsa:5949.
UCSCiuc001jez.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M33875
, M33864, M33865, M33866 Genomic DNA. Translation: AAA59453.1.
M22453 mRNA. Translation: AAA36126.1.
J05253 Genomic DNA. Translation: AAC18875.1. Different initiation.
AB593121 mRNA. Translation: BAJ84061.1.
AL731561 Genomic DNA. Translation: CAH74045.1.
CH471251 Genomic DNA. Translation: EAW50659.1.
BC039844 mRNA. Translation: AAH39844.1.
J03912 mRNA. Translation: AAA59188.1.
X53044 Genomic DNA. Translation: CAA37213.1.
DQ426897 mRNA. Translation: ABD90548.1.
CCDSiCCDS73119.1.
PIRiA33812.
RefSeqiNP_002891.1. NM_002900.2.
UniGeneiHs.591928.

3D structure databases

ProteinModelPortaliP10745.
SMRiP10745.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111883. 1 interactor.
STRINGi9606.ENSP00000224600.

Chemistry databases

DrugBankiDB00162. Vitamin A.

Protein family/group databases

MEROPSiS41.950.

PTM databases

iPTMnetiP10745.
PhosphoSitePlusiP10745.

Polymorphism and mutation databases

BioMutaiRBP3.
DMDMi124894.

Proteomic databases

PaxDbiP10745.
PeptideAtlasiP10745.
PRIDEiP10745.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000584701; ENSP00000463151; ENSG00000265203.
GeneIDi5949.
KEGGihsa:5949.
UCSCiuc001jez.3. human.

Organism-specific databases

CTDi5949.
DisGeNETi5949.
GeneCardsiRBP3.
GeneReviewsiRBP3.
HGNCiHGNC:9921. RBP3.
HPAiCAB013080.
MalaCardsiRBP3.
MIMi180290. gene.
615233. phenotype.
neXtProtiNX_P10745.
OpenTargetsiENSG00000265203.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34288.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJZP. Eukaryota.
ENOG4111K6J. LUCA.
GeneTreeiENSGT00390000014726.
HOGENOMiHOG000139907.
HOVERGENiHBG006175.
InParanoidiP10745.
OMAiCSYFFDE.
OrthoDBiEOG091G01EO.
PhylomeDBiP10745.
TreeFamiTF332253.

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000107618-MONOMER.
ZFISH:ENSG00000107618-MONOMER.
ZFISH:ENSG00000166426-MONOMER.
ReactomeiR-HSA-2187335. The retinoid cycle in cones (daylight vision).
R-HSA-2453902. The canonical retinoid cycle in rods (twilight vision).

Miscellaneous databases

GeneWikiiRBP3.
GenomeRNAii5949.
PROiP10745.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107618.
CleanExiHS_RBP3.
GenevisibleiP10745. HS.

Family and domain databases

Gene3Di3.90.226.10. 4 hits.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR032956. RBP3.
IPR005151. Tail-specific_protease.
[Graphical view]
PANTHERiPTHR11261:SF3. PTHR11261:SF3. 1 hit.
PfamiPF03572. Peptidase_S41. 4 hits.
[Graphical view]
SMARTiSM00245. TSPc. 4 hits.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 4 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiRET3_HUMAN
AccessioniPrimary (citable) accession number: P10745
Secondary accession number(s): Q0QD34, Q5VSR0, Q8IXN0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 1, 1991
Last modified: November 30, 2016
This is version 153 of the entry and version 2 of the sequence. [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

Caution

It is uncertain whether Met-1 or Met-2 is the initiator.Curated

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.