Q8R1B8 (RORB_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified July 9, 2014. Version 110. History...
Names and origin
|Protein names||Recommended name:|
Nuclear receptor ROR-beta
Nuclear receptor RZR-beta
Nuclear receptor subfamily 1 group F member 2
Retinoid-related orphan receptor-beta
|Organism||Mus musculus (Mouse) [Reference proteome]|
|Taxonomic identifier||10090 [NCBI]|
|Taxonomic lineage||Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus|
|Sequence length||470 AA.|
|Protein existence||Evidence at protein level|
General annotation (Comments)
Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity. Ref.1 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.9
Isoform 1 is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4. Ref.1 Ref.4 Ref.5 Ref.6 Ref.7 Ref.8 Ref.9
Monomer. Interacts with CRX.
Expressed in the lateral cortical plate at E18.5 and only very weakly expressed by cortical neurons at E15.5. Expression progressively increases in layer IV neurons of the prospective somatosensory, visual and auditory cortices. At much lower levels, also expressed by scattered neurons in layer V in these areas. By P4, expression is striking in the whisker barrel cortex of the somatosensory cortex. During retinal development, isoform 1 is broadly expressed in between E13.5 and P5 then declines and is maintained at lower levels into adulthood. At E15.5, is expressed in the immature cochlea, brainstem, spinal cord and cerebral cortex. Isoform 2 is first detected at low levels at late embryonic stages (E18.5), the expression highly increases during the first postnatal week and is maintained during the adulthood. Ref.1 Ref.7 Ref.9
Induced by aging in bone marrow. Ref.8
AF-2 (activation function-2) motif is required for recruiting coregulators containing the LXXLL motif, such as NCOA1, and control the transactivational activity By similarity.
Mice are blind, show juvenile ataxia, duck gait, hind paw clasping reflex as well as delayed onset of male fertility. They suffer a degeneration of the retina during postnatal development with severe defects in photoreceptor cell morphology. Mice display reduced anxiety and learned helplessness-related behaviors. They also show a significant increase of the circadian period. Knockouts for isoform 1 display duck gait and lack amacrine and horizontal cells with an excess of ganglion cells in the retina. Ref.1 Ref.4 Ref.5 Ref.6 Ref.9
Contains 1 nuclear receptor DNA-binding domain.
The sequence AAH24842.2 differs from that shown. Reason: Intron retention.
The sequence AAH58269.1 differs from that shown. Reason: Intron retention.
|This entry describes 2 isoforms produced by alternative promoter usage. [Align] [Select]|
|Isoform 2 (identifier: Q8R1B8-2) |
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.
|Isoform 1 (identifier: Q8R1B8-1) |
The sequence of this isoform differs from the canonical sequence as follows:
1-13: MCENQPKTKADGT → MR
Sequence annotation (Features)
|Feature key||Position(s)||Length||Description||Graphical view||Feature identifier|
|Chain||1 – 470||470||Nuclear receptor ROR-beta||PRO_0000053515|
|DNA binding||18 – 93||76||Nuclear receptor Ref.1|
|Zinc finger||21 – 41||21||NR C4-type|
|Zinc finger||57 – 81||25||NR C4-type|
|Region||94 – 221||128||Hinge Potential|
|Region||222 – 470||249||Ligand-binding Potential|
|Motif||456 – 461||6||AF-2|
|Alternative sequence||1 – 13||13||MCENQ…KADGT → MR in isoform 1.||VSP_022576|
|Sequence conflict||107||1||E → G in BAE93688. Ref.2|
|Sequence conflict||220||1||M → L in BAE93688. Ref.2|
|Sequence conflict||247||1||Q → H in BAE93688. Ref.2|
|||"Activation of the blue opsin gene in cone photoreceptor development by retinoid-related orphan receptor beta."|
Srinivas M., Ng L., Liu H., Jia L., Forrest D.
Mol. Endocrinol. 20:1728-1741(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION IN CONE PHOTORECEPTOR DEVELOPMENT, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, SUBCELLULAR LOCATION, DNA-BINDING.
Tissue: Embryonic eye.
|||"Mouse ROR beta partial cDNA."|
Takano A., Katsuyama Y.
Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
|||"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."|
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
|||"Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice."|
Andre E., Conquet F., Steinmayr M., Stratton S.C., Porciatti V., Becker-Andre M.
EMBO J. 17:3867-3877(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN CIRCADIAN RHYTHMS AND DEVELOPMENT, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY.
|||"Behavioral characterization and modulation of circadian rhythms by light and melatonin in C3H/HeN mice homozygous for the RORbeta knockout."|
Masana M.I., Sumaya I.C., Becker-Andre M., Dubocovich M.L.
Am. J. Physiol. 292:R2357-R2367(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN CIRCADIAN RHYTHMS, DISRUPTION PHENOTYPE.
|||"Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development."|
Jia L., Oh E.C., Ng L., Srinivas M., Brooks M., Swaroop A., Forrest D.
Proc. Natl. Acad. Sci. U.S.A. 106:17534-17539(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN ROD DIFFERENTIATION, DISRUPTION PHENOTYPE.
|||"RORbeta induces barrel-like neuronal clusters in the developing neocortex."|
Jabaudon D., Shnider S.J., Tischfield D.J., Galazo M.J., Macklis J.D.
Cereb. Cortex 22:996-1006(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN NEUROGENESIS, DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
|||"Examination of nuclear receptor expression in osteoblasts reveals Rorbeta as an important regulator of osteogenesis."|
Roforth M.M., Liu G., Khosla S., Monroe D.G.
J. Bone Miner. Res. 27:891-901(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN OSTEOGENESIS, TISSUE SPECIFICITY, INDUCTION BY AGING.
|||"An isoform of retinoid-related orphan receptor beta directs differentiation of retinal amacrine and horizontal interneurons."|
Liu H., Kim S.Y., Fu Y., Wu X., Ng L., Swaroop A., Forrest D.
Nat. Commun. 4:1813-1813(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN RETINA DEVELOPMENT (ISOFORM 1), DISRUPTION PHENOTYPE (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE (ISOFORMS 1 AND 2).
|+||Additional computationally mapped references.|
|BC024842 mRNA. Translation: AAH24842.2. Sequence problems.|
BC058269 mRNA. Translation: AAH58269.1. Sequence problems.
DQ779923 mRNA. Translation: ABG77269.1.
DQ779924 mRNA. Translation: ABG77270.1.
AB258405 mRNA. Translation: BAE93688.1.
|RefSeq||NP_001036819.1. NM_001043354.2. [Q8R1B8-1]|
NP_666207.3. NM_146095.4. [Q8R1B8-2]
3D structure databases
|SMR||Q8R1B8. Positions 10-463. |
Protein-protein interaction databases
|BioGrid||230457. 6 interactions.|
Protocols and materials databases
Genome annotation databases
|Ensembl||ENSMUST00000040153; ENSMUSP00000047597; ENSMUSG00000036192. [Q8R1B8-2]|
ENSMUST00000112828; ENSMUSP00000108447; ENSMUSG00000036192.
ENSMUST00000112832; ENSMUSP00000108451; ENSMUSG00000036192. [Q8R1B8-1]
|UCSC||uc008gyc.2. mouse. [Q8R1B8-2]|
uc008gye.2. mouse. [Q8R1B8-1]
|MGI||MGI:1343464. Rorb. |
Gene expression databases
Family and domain databases
|Gene3D||1.10.565.10. 2 hits. |
188.8.131.52. 1 hit.
|InterPro||IPR008946. Nucl_hormone_rcpt_ligand-bd. |
|Pfam||PF00104. Hormone_recep. 1 hit. |
PF00105. zf-C4. 1 hit.
|PRINTS||PR01293. RORNUCRECPTR. |
|SMART||SM00430. HOLI. 1 hit. |
SM00399. ZnF_C4. 1 hit.
|SUPFAM||SSF48508. SSF48508. 1 hit. |
|PROSITE||PS00031. NUCLEAR_REC_DBD_1. 1 hit. |
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
|Accession||Primary (citable) accession number: Q8R1B8|
Secondary accession number(s): Q0PQZ2, Q0PQZ3, Q1MVR9
|Entry status||Reviewed (UniProtKB/Swiss-Prot)|
|Annotation program||Chordata Protein Annotation Program|