RAR-related orphan receptor beta

Protein-coding gene in the species Homo sapiens
RORB
Identifiers
AliasesRORB, NR1F2, ROR-BETA, RZR-BETA, RZRB, bA133M9.1, RAR-related orphan receptor beta, RAR related orphan receptor B, EIG15
External IDsOMIM: 601972 MGI: 1343464 HomoloGene: 38250 GeneCards: RORB
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for RORB
Genomic location for RORB
Band9q21.13Start74,497,335 bp[1]
End74,693,177 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for RORB
Genomic location for RORB
Band19|19 BStart18,907,969 bp[2]
End19,088,560 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • Brodmann area 23

  • middle temporal gyrus

  • parietal lobe

  • postcentral gyrus

  • retinal pigment epithelium

  • superior frontal gyrus

  • entorhinal cortex

  • endometrium

  • seminal vesicula
Top expressed in
  • internal granular layer

  • medial geniculate nucleus

  • medial dorsal nucleus

  • lateral geniculate nucleus

  • retina

  • retinal pigment epithelium

  • posterior horn of spinal cord

  • inner nuclear layer

  • substantia nigra

  • superior colliculus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • sequence-specific DNA binding
  • DNA binding
  • DNA-binding transcription factor activity
  • zinc ion binding
  • transcription factor binding
  • metal ion binding
  • steroid hormone receptor activity
  • nuclear receptor activity
  • protein binding
  • RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • DNA-binding transcription activator activity, RNA polymerase II-specific
  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • melatonin receptor activity
Cellular component
  • nucleoplasm
  • nucleus
Biological process
  • cellular response to retinoic acid
  • regulation of transcription, DNA-templated
  • response to stimulus
  • rhythmic process
  • retinal cone cell development
  • negative regulation of osteoblast differentiation
  • transcription, DNA-templated
  • positive regulation of transcription, DNA-templated
  • multicellular organism development
  • regulation of circadian rhythm
  • retinal rod cell development
  • eye photoreceptor cell development
  • transcription initiation from RNA polymerase II promoter
  • negative regulation of transcription, DNA-templated
  • visual perception
  • steroid hormone mediated signaling pathway
  • intracellular receptor signaling pathway
  • amacrine cell differentiation
  • retina development in camera-type eye
  • positive regulation of transcription by RNA polymerase II
  • G protein-coupled receptor signaling pathway
  • transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6096

225998

Ensembl

ENSG00000198963

ENSMUSG00000036192

UniProt

Q92753
Q58EY0

Q8R1B8

RefSeq (mRNA)

NM_006914
NM_001365023

NM_001043354
NM_001289921
NM_146095

RefSeq (protein)

NP_008845
NP_001351952

NP_001036819
NP_001276850
NP_666207

Location (UCSC)Chr 9: 74.5 – 74.69 MbChr 19: 18.91 – 19.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RAR-related orphan receptor beta (ROR-beta), also known as NR1F2 (nuclear receptor subfamily 1, group F, member 2) is a nuclear receptor that in humans is encoded by the RORB gene.[5]

Function

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside-diphosphate kinase involved in organogenesis and differentiation.[6]

In the brain, ROR-beta is concentrated in layer 4 of the cerebral cortex, where it plays a role in the development of structures such as barrel columns.[7]

A mutation in this gene also results in the loss of spinal cord interneurons and of saltatorial locomotion,[8] a type of hopping gait that in mammals can be found in rabbits, hares, kangaroos, and some species of rodents.

Interactions

RAR-related orphan receptor beta has been shown to interact with NME1.[9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198963 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036192 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Giguère V, Tini M, Flock G, Ong E, Evans RM, Otulakowski G (March 1994). "Isoform-specific amino-terminal domains dictate DNA-binding properties of ROR alpha, a novel family of orphan hormone nuclear receptors". Genes Dev. 8 (5): 538–53. doi:10.1101/gad.8.5.538. PMID 7926749.
  6. ^ "Entrez Gene: RORB RAR-related orphan receptor B".
  7. ^ Jabaudon D, Shnider SJ, Tischfield DJ, Galazo MJ, Macklis JD (May 2012). "RORβ induces barrel-like neuronal clusters in the developing neocortex". Cereb. Cortex. 22 (5): 996–1006. doi:10.1093/cercor/bhr182. PMC 3328343. PMID 21799210.
  8. ^ Carneiro, Miguel; Vieillard, Jennifer; Andrade, Pedro; Boucher, Samuel; Afonso, Sandra; Blanco-Aguiar, José A.; Santos, Nuno; Branco, João; Esteves, Pedro J.; Ferrand, Nuno; Kullander, Klas; Andersson, Leif (2021). "A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits". PLOS Genetics. 17 (3): e1009429. doi:10.1371/journal.pgen.1009429. PMC 7993613. PMID 33764968.
  9. ^ Paravicini G, Steinmayr M, André E, Becker-André M (October 1996). "The metastasis suppressor candidate nucleotide diphosphate kinase NM23 specifically interacts with members of the ROR/RZR nuclear orphan receptor subfamily". Biochem. Biophys. Res. Commun. 227 (1): 82–7. doi:10.1006/bbrc.1996.1471. PMID 8858107.

Further reading

  • Beeson WM, Perry TW, Zurcher TD (1977). "Effect of supplemental zinc on growth and on hair and blood serum levels of beef cattle". J. Anim. Sci. 45 (1): 160–5. doi:10.2527/jas1977.451160x. PMID 885817.
  • Carlberg C, Hooft van Huijsduijnen R, Staple JK, DeLamarter JF, Becker-André M (1994). "RZRs, a new family of retinoid-related orphan receptors that function as both monomers and homodimers". Mol. Endocrinol. 8 (6): 757–70. doi:10.1210/mend.8.6.7935491. PMID 7935491. S2CID 22342101.
  • Greiner EF, Kirfel J, Greschik H, Dörflinger U, Becker P, Mercep A, Schüle R (1996). "Functional analysis of retinoid Z receptor beta, a brain-specific nuclear orphan receptor". Proc. Natl. Acad. Sci. U.S.A. 93 (19): 10105–10. Bibcode:1996PNAS...9310105G. doi:10.1073/pnas.93.19.10105. PMC 38344. PMID 8816759.
  • Paravicini G, Steinmayr M, André E, Becker-André M (1996). "The metastasis suppressor candidate nucleotide diphosphate kinase NM23 specifically interacts with members of the ROR/RZR nuclear orphan receptor subfamily". Biochem. Biophys. Res. Commun. 227 (1): 82–7. doi:10.1006/bbrc.1996.1471. PMID 8858107.
  • Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Park HT, Baek SY, Kim BS, Kim JB, Kim JJ (1996). "Developmental expression of 'RZR beta, a putative nuclear-melatonin receptor' mRNA in the suprachiasmatic nucleus of the rat". Neurosci. Lett. 217 (1): 17–20. doi:10.1016/S0304-3940(96)13060-3. PMID 8905729.
  • André E, Conquet F, Steinmayr M, Stratton SC, Porciatti V, Becker-André M (1998). "Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice". EMBO J. 17 (14): 3867–77. doi:10.1093/emboj/17.14.3867. PMC 1170722. PMID 9670004.
  • Greiner EF, Kirfel J, Greschik H, Huang D, Becker P, Kapfhammer JP, Schüle R (2000). "Differential ligand-dependent protein-protein interactions between nuclear receptors and a neuronal-specific cofactor". Proc. Natl. Acad. Sci. U.S.A. 97 (13): 7160–5. Bibcode:2000PNAS...97.7160G. doi:10.1073/pnas.97.13.7160. PMC 16516. PMID 10860982.
  • Gawlas K, Stunnenberg HG (2000). "Differential binding and transcriptional behaviour of two highly related orphan receptors, ROR alpha(4) and ROR beta(1)". Biochim. Biophys. Acta. 1494 (3): 236–41. doi:10.1016/s0167-4781(00)00237-2. PMID 11121580.
  • Gawlas K, Stunnenberg HG (2001). "Differential transcription of the orphan receptor RORbeta in nuclear extracts derived from Neuro2A and HeLa cells". Nucleic Acids Res. 29 (16): 3424–32. doi:10.1093/nar/29.16.3424. PMC 55847. PMID 11504880.
  • Stehlin C, Wurtz JM, Steinmetz A, Greiner E, Schüle R, Moras D, Renaud JP (2001). "X-ray structure of the orphan nuclear receptor RORbeta ligand-binding domain in the active conformation". EMBO J. 20 (21): 5822–31. doi:10.1093/emboj/20.21.5822. PMC 125710. PMID 11689423.
  • Sumi Y, Yagita K, Yamaguchi S, Ishida Y, Kuroda Y, Okamura H (2002). "Rhythmic expression of ROR beta mRNA in the mice suprachiasmatic nucleus". Neurosci. Lett. 320 (1–2): 13–6. doi:10.1016/S0304-3940(02)00011-3. hdl:20.500.14094/D1002462. PMID 11849752. S2CID 54411407.
  • Stehlin-Gaon C, Willmann D, Zeyer D, Sanglier S, Van Dorsselaer A, Renaud JP, Moras D, Schüle R (2003). "All-trans retinoic acid is a ligand for the orphan nuclear receptor ROR beta". Nat. Struct. Biol. 10 (10): 820–5. doi:10.1038/nsb979. PMID 12958591. S2CID 10108247.

External links

  • v
  • t
  • e
  • 1k4w: X-ray structure of the orphan nuclear receptor ROR beta ligand-binding domain in the active conformation
    1k4w: X-ray structure of the orphan nuclear receptor ROR beta ligand-binding domain in the active conformation
  • 1n4h: Characterization of ligands for the orphan nuclear receptor RORbeta
    1n4h: Characterization of ligands for the orphan nuclear receptor RORbeta
  • 1nq7: Characterization of ligands for the orphan nuclear receptor RORbeta
    1nq7: Characterization of ligands for the orphan nuclear receptor RORbeta
  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
  • v
  • t
  • e
Amino acids and
similar/related
  • Amino acids and related: GABA receptor modulators
  • GABAA receptor positive modulators
  • GABA metabolism and transport modulators
  • GHB receptor modulators
  • Glutamate metabolism and transport modulators
  • Glycine receptor modulators
  • Ionotropic glutamate receptor modulators
  • Metabotropic glutamate receptor modulators
  • Monoamines: Adrenergic receptor modulators
  • Dopamine receptor modulators
  • Histamine receptor modulators
  • Melatonin receptor modulators
  • Monoamine metabolism modulators
  • Monoamine neurotoxins
  • Monoamine releasing agents
  • Monoamine reuptake inhibitors
  • Serotonin receptor modulators
  • hTAAR modulators
  • Acetylcholine: Acetylcholine metabolism and transport modulators
  • Muscarinic acetylcholine receptor modulators
  • Nicotinic acetylcholine receptor modulators
  • Others: Imidazoline receptor modulators
  • Purine receptor modulators
  • Sigma receptor modulators
  • Thyroid hormone receptor modulators
Lipids
  • Eicosanoids: Cannabinoid receptor modulators
  • Leukotriene signaling modulators
  • Prostanoid signaling modulators
  • Phospholipids: Lysophospholipid signaling modulators
  • PAF receptor modulators
  • Steroids: Androgen receptor modulators
  • Estrogen receptor modulators
  • Glucocorticoid receptor modulators
  • Mineralocorticoid receptor modulators
  • Progesterone receptor modulators
  • Steroid metabolism modulators
  • Other nuclear receptors: Aryl hydrocarbon receptor modulators
  • Estrogen-related receptor modulators
  • FXR and LXR modulators
  • PPAR modulators
  • Retinoid receptor modulators
  • Vitamin D receptor modulators
  • Xenobiotic-sensing receptor modulators
Peptides/proteins
  • Peptides: Angiotensin receptor modulators
  • GH/IGF-1 axis signaling modulators
  • GnRH and gonadotropin receptor modulators
  • Melanocortin receptor modulators
  • Neurokinin receptor modulators
  • Opioid receptor modulators
  • Oxytocin and vasopressin receptor modulators
  • Cytokines: Cytokine receptor modulators
  • Chemokine receptor modulators
  • Interleukin receptor modulators
  • TNF receptor superfamily modulators
  • Growth factors: Growth factor receptor modulators
  • TGFβ receptor superfamily modulators
Others and
non-receptor
  • Ion channels: Ion channel modulators
  • TRP channel modulators
  • Transporters: Sodium-glucose transporter modulators
  • Symporter inhibitors
  • Others: Nitric oxide signaling modulators


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