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Protein

Retinoic acid receptor beta

Gene

RARB

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

Functioni

Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi88 – 153Nuclear receptorPROSITE-ProRule annotationAdd BLAST66
Zinc fingeri88 – 108NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri124 – 148NR C4-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
SignaLinkiP10826
SIGNORiP10826

Names & Taxonomyi

Protein namesi
Recommended name:
Retinoic acid receptor beta
Short name:
RAR-beta
Alternative name(s):
HBV-activated protein
Nuclear receptor subfamily 1 group B member 2
RAR-epsilon
Gene namesi
Name:RARB
Synonyms:HAP, NR1B2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000077092.18
HGNCiHGNC:9865 RARB
MIMi180220 gene
neXtProtiNX_P10826

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, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, syndromic, 12 (MCOPS12)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities.
See also OMIM:615524
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077141220L → P in MCOPS12; increased transcriptional response to retinoic acid ligands. 1 Publication1
Natural variantiVAR_077142303G → A in MCOPS12; increased transcriptional response to retinoic acid ligands. 1 Publication1
Natural variantiVAR_070780394R → C in MCOPS12; increased transcriptional response to retinoic acid ligands. 2 Publications1
Natural variantiVAR_070781394R → S in MCOPS12; increases transcriptional response to retinoic acid. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi188T → I: No effect on transcriptional activation in the absence of hormone. 1 Publication1
Mutagenesisi191I → V: No effect on transcriptional activation in the absence of hormone. 1 Publication1
Mutagenesisi222L → I: Reduced transcriptional activation in the absence of hormone. Even greater reduction in transcriptional activation in the absence of hormone; when associated with D-223 or S-232. Great reduction in transcriptional activation in the absence of hormone; when associated with D-223 and S-232. 1 Publication1
Mutagenesisi223G → D: Greatly reduced transcriptional activation in the absence of hormone. Even greater reduction in transcriptional activation in the absence of hormone; when associated with I-222 or S-232. Great reduction in transcriptional activation in the absence of hormone; when associated with I-222 and S-232. 1 Publication1
Mutagenesisi232A → S: Reduced transcriptional activation in the absence of hormone. Some further reduction of transcriptional activity in the absence of hormone; when associated with I-222 or D-223. Great reduction in transcriptional activation in the absence of hormone; when associated with I-222 and D-223. 1 Publication1

Keywords - Diseasei

Disease mutation, Microphthalmia, Proto-oncogene

Organism-specific databases

DisGeNETi5915
MalaCardsiRARB
MIMi615524 phenotype
OpenTargetsiENSG00000077092
Orphaneti2470 Matthew-Wood syndrome
PharmGKBiPA34226

Chemistry databases

ChEMBLiCHEMBL2008
DrugBankiDB00459 Acitretin
DB00210 Adapalene
DB00523 Alitretinoin
DB00926 Etretinate
DB05785 LGD-1550
DB04942 Tamibarotene
DB00799 Tazarotene
DB02877 TTNPB
GuidetoPHARMACOLOGYi591

Polymorphism and mutation databases

BioMutaiRARB
DMDMi17380507

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000534671 – 455Retinoic acid receptor betaAdd BLAST455

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei77PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP10826
PeptideAtlasiP10826
PRIDEiP10826
ProteomicsDBi52654
52655 [P10826-2]
52656 [P10826-3]

PTM databases

iPTMnetiP10826
PhosphoSitePlusiP10826

Expressioni

Gene expression databases

BgeeiENSG00000077092 Expressed in 153 organ(s), highest expression level in forebrain
CleanExiHS_RARB
ExpressionAtlasiP10826 baseline and differential
GenevisibleiP10826 HS

Organism-specific databases

HPAiCAB002617
HPA004174

Interactioni

Subunit structurei

Homodimer (By similarity). Heterodimer; with a RXR molecule. Binds DNA preferentially as a RAR/RXR heterodimer (By similarity). Interacts weakly with NCOR2.By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111850, 22 interactors
IntActiP10826, 17 interactors
MINTiP10826
STRINGi9606.ENSP00000332296

Chemistry databases

BindingDBiP10826

Structurei

Secondary structure

1455
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP10826
SMRiP10826
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP10826

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini183 – 417NR LBDPROSITE-ProRule annotationAdd BLAST235

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 87ModulatingAdd BLAST87
Regioni154 – 182HingeAdd BLAST29

Domaini

Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri88 – 108NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri124 – 148NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00870000136372
HOGENOMiHOG000010312
HOVERGENiHBG005606
InParanoidiP10826
KOiK08528
OMAiSVPGFKM
OrthoDBiEOG091G0XCQ
PhylomeDBiP10826
TreeFamiTF328382

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR003078 Retinoic_acid_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01292 RETNOICACIDR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform Beta-1 (identifier: P10826-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTTSGHACPV PAVNGHMTHY PATPYPLLFP PVIGGLSLPP LHGLHGHPPP
60 70 80 90 100
SGCSTPSPAT IETQSTSSEE LVPSPPSPLP PPRVYKPCFV CQDKSSGYHY
110 120 130 140 150
GVSACEGCKG FFRRSIQKNM IYTCHRDKNC VINKVTRNRC QYCRLQKCFE
160 170 180 190 200
VGMSKESVRN DRNKKKKETS KQECTESYEM TAELDDLTEK IRKAHQETFP
210 220 230 240 250
SLCQLGKYTT NSSADHRVRL DLGLWDKFSE LATKCIIKIV EFAKRLPGFT
260 270 280 290 300
GLTIADQITL LKAACLDILI LRICTRYTPE QDTMTFSDGL TLNRTQMHNA
310 320 330 340 350
GFGPLTDLVF TFANQLLPLE MDDTETGLLS AICLICGDRQ DLEEPTKVDK
360 370 380 390 400
LQEPLLEALK IYIRKRRPSK PHMFPKILMK ITDLRSISAK GAERVITLKM
410 420 430 440 450
EIPGSMPPLI QEMLENSEGH EPLTPSSSGN TAEHSPSISP SSVENSGVSQ

SPLVQ
Length:455
Mass (Da):50,489
Last modified:November 16, 2001 - v2
Checksum:i8813263AD0495D5A
GO
Isoform Beta-2 (identifier: P10826-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MTTSGHACPV...SGCSTPSPAT → MFDCMDVLSV...EWQHRHTAQS

Show »
Length:448
Mass (Da):50,344
Checksum:i844A298AD32F46A8
GO
Isoform Beta-3 (identifier: P10826-4)
Sequence is not available
Length:
Mass (Da):
Isoform Beta-4 (identifier: P10826-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.

Show »
Length:336
Mass (Da):37,932
Checksum:iD248E5CAB87DA44E
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RBI3D6RBI3_HUMAN
Retinoic acid receptor beta
RARB
402Annotation score:

Sequence cautioni

The sequence CAA27637 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti206G → A in CAA68398 (PubMed:2825037).Curated1
Sequence conflicti317L → Q in CAA30262 (PubMed:2836738).Curated1
Sequence conflicti414L → M in CAA68398 (PubMed:2825037).Curated1
Sequence conflicti454V → L in CAA30262 (PubMed:2836738).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03606090V → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_077141220L → P in MCOPS12; increased transcriptional response to retinoic acid ligands. 1 Publication1
Natural variantiVAR_077142303G → A in MCOPS12; increased transcriptional response to retinoic acid ligands. 1 Publication1
Natural variantiVAR_070780394R → C in MCOPS12; increased transcriptional response to retinoic acid ligands. 2 Publications1
Natural variantiVAR_070781394R → S in MCOPS12; increases transcriptional response to retinoic acid. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0036351 – 119Missing in isoform Beta-4. 1 PublicationAdd BLAST119
Alternative sequenceiVSP_0036341 – 60MTTSG…PSPAT → MFDCMDVLSVSPGQILDFYT ASPSSCMLQEKALKACFSGL TQTEWQHRHTAQS in isoform Beta-2. 3 PublicationsAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X07282 mRNA Translation: CAA30262.1
Y00291 mRNA Translation: CAA68398.1
AF157483 mRNA Translation: AAD45688.1
BC060794 mRNA Translation: AAH60794.1
X56849 Genomic DNA No translation available.
X77664 Genomic DNA Translation: CAA54740.1
X04014 Genomic DNA Translation: CAA27637.1 Sequence problems.
M57445 Genomic DNA Translation: AAA58728.1
CCDSiCCDS2642.1 [P10826-2]
CCDS46775.1 [P10826-3]
PIRiS02827
S49021
RefSeqiNP_000956.2, NM_000965.4 [P10826-2]
NP_001277145.1, NM_001290216.2 [P10826-1]
NP_001277146.1, NM_001290217.1 [P10826-3]
NP_001277195.1, NM_001290266.1
NP_001277205.1, NM_001290276.1 [P10826-3]
NP_057236.1, NM_016152.3 [P10826-3]
UniGeneiHs.543218
Hs.581530
Hs.654490
Hs.733004

Genome annotation databases

EnsembliENST00000330688; ENSP00000332296; ENSG00000077092 [P10826-2]
ENST00000437042; ENSP00000398840; ENSG00000077092 [P10826-3]
ENST00000458646; ENSP00000391391; ENSG00000077092 [P10826-3]
GeneIDi5915
KEGGihsa:5915
UCSCiuc003cdh.4 human [P10826-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X07282 mRNA Translation: CAA30262.1
Y00291 mRNA Translation: CAA68398.1
AF157483 mRNA Translation: AAD45688.1
BC060794 mRNA Translation: AAH60794.1
X56849 Genomic DNA No translation available.
X77664 Genomic DNA Translation: CAA54740.1
X04014 Genomic DNA Translation: CAA27637.1 Sequence problems.
M57445 Genomic DNA Translation: AAA58728.1
CCDSiCCDS2642.1 [P10826-2]
CCDS46775.1 [P10826-3]
PIRiS02827
S49021
RefSeqiNP_000956.2, NM_000965.4 [P10826-2]
NP_001277145.1, NM_001290216.2 [P10826-1]
NP_001277146.1, NM_001290217.1 [P10826-3]
NP_001277195.1, NM_001290266.1
NP_001277205.1, NM_001290276.1 [P10826-3]
NP_057236.1, NM_016152.3 [P10826-3]
UniGeneiHs.543218
Hs.581530
Hs.654490
Hs.733004

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HRANMR-A82-160[»]
1XAPX-ray2.10A176-421[»]
4DM6X-ray1.90A/B176-421[»]
4DM8X-ray2.30A/B176-421[»]
4JYGX-ray2.35A/B176-421[»]
4JYHX-ray2.60A/B176-421[»]
4JYIX-ray1.90A/B176-421[»]
5UANX-ray3.51B80-455[»]
ProteinModelPortaliP10826
SMRiP10826
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111850, 22 interactors
IntActiP10826, 17 interactors
MINTiP10826
STRINGi9606.ENSP00000332296

Chemistry databases

BindingDBiP10826
ChEMBLiCHEMBL2008
DrugBankiDB00459 Acitretin
DB00210 Adapalene
DB00523 Alitretinoin
DB00926 Etretinate
DB05785 LGD-1550
DB04942 Tamibarotene
DB00799 Tazarotene
DB02877 TTNPB
GuidetoPHARMACOLOGYi591

PTM databases

iPTMnetiP10826
PhosphoSitePlusiP10826

Polymorphism and mutation databases

BioMutaiRARB
DMDMi17380507

Proteomic databases

PaxDbiP10826
PeptideAtlasiP10826
PRIDEiP10826
ProteomicsDBi52654
52655 [P10826-2]
52656 [P10826-3]

Protocols and materials databases

DNASUi5915
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000330688; ENSP00000332296; ENSG00000077092 [P10826-2]
ENST00000437042; ENSP00000398840; ENSG00000077092 [P10826-3]
ENST00000458646; ENSP00000391391; ENSG00000077092 [P10826-3]
GeneIDi5915
KEGGihsa:5915
UCSCiuc003cdh.4 human [P10826-1]

Organism-specific databases

CTDi5915
DisGeNETi5915
EuPathDBiHostDB:ENSG00000077092.18
GeneCardsiRARB
HGNCiHGNC:9865 RARB
HPAiCAB002617
HPA004174
MalaCardsiRARB
MIMi180220 gene
615524 phenotype
neXtProtiNX_P10826
OpenTargetsiENSG00000077092
Orphaneti2470 Matthew-Wood syndrome
PharmGKBiPA34226
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00870000136372
HOGENOMiHOG000010312
HOVERGENiHBG005606
InParanoidiP10826
KOiK08528
OMAiSVPGFKM
OrthoDBiEOG091G0XCQ
PhylomeDBiP10826
TreeFamiTF328382

Enzyme and pathway databases

ReactomeiR-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-5362517 Signaling by Retinoic Acid
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
SignaLinkiP10826
SIGNORiP10826

Miscellaneous databases

ChiTaRSiRARB human
EvolutionaryTraceiP10826
GeneWikiiRetinoic_acid_receptor_beta
GenomeRNAii5915
PROiPR:P10826
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000077092 Expressed in 153 organ(s), highest expression level in forebrain
CleanExiHS_RARB
ExpressionAtlasiP10826 baseline and differential
GenevisibleiP10826 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR003078 Retinoic_acid_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01292 RETNOICACIDR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRARB_HUMAN
AccessioniPrimary (citable) accession number: P10826
Secondary accession number(s): P12891
, Q00989, Q15298, Q9UN48
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 16, 2001
Last modified: November 7, 2018
This is version 225 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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