InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RARB

Summary

InnateDB Protein

IDBP-22490.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RARB

Protein Name

retinoic acid receptor, beta

Synonyms

HAP; MCOPS12; NR1B2; RRB2;

Species

Homo sapiens

Ensembl Protein

ENSP00000332296

InnateDB Gene

IDBG-22486 (RARB)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12554770}.

Subcellular Localization

Isoform Beta-1: Nucleus.Isoform Beta-2: Nucleus.Isoform Beta-4: Cytoplasm.

Disease Associations

Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524]: A 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. {ECO:0000269PubMed:24075189}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	37 [view]
Protein-Protein	24 [view]
Protein-DNA	12 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003707	steroid hormone receptor activity
GO:0003708	retinoic acid receptor activity
GO:0005515	protein binding
GO:0008144	drug binding
GO:0008270	zinc ion binding
GO:0032403	protein complex binding
GO:0043565	sequence-specific DNA binding
GO:0046965	retinoid X receptor binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001657	ureteric bud development
GO:0002068	glandular epithelial cell development
GO:0003148	outflow tract septum morphogenesis
GO:0003406	retinal pigment epithelium development
GO:0003417	growth plate cartilage development
GO:0006355	regulation of transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0007165	signal transduction
GO:0008284	positive regulation of cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0010467	gene expression
GO:0021756	striatum development
GO:0022008	neurogenesis
GO:0031641	regulation of myelination
GO:0032331	negative regulation of chondrocyte differentiation
GO:0035116	embryonic hindlimb morphogenesis
GO:0035264	multicellular organism growth
GO:0043065	positive regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process
GO:0043068	positive regulation of programmed cell death
GO:0043401	steroid hormone mediated signaling pathway
GO:0045666	positive regulation of neuron differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048048	embryonic eye morphogenesis
GO:0048384	retinoic acid receptor signaling pathway
GO:0048566	embryonic digestive tract development
GO:0055012	ventricular cardiac muscle cell differentiation
GO:0060041	retina development in camera-type eye
GO:0060348	bone development
GO:0061037	negative regulation of cartilage development

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR000003 Retinoid X receptor/HNF4
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001628 Zinc finger, nuclear hormone receptor-type
IPR001723 Steroid hormone receptor
IPR003070 Orphan nuclear receptor
IPR003078 Retinoic acid receptor
IPR008946 Nuclear hormone receptor, ligand-binding

PFAM

PF00104
PF00105

PRINTS

PR00545
PR00047
PR00398
PR01284
PR01292

PIRSF

SMART

SM00430
SM00399

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt