Recombinant Human G patch domain-containing protein 3 (GPATCH3)

Uniprot Id

Q96I76

Target Species

Human

Target Name

GPATCH3

Target Full Name

G patch domain-containing protein 3

Target Function

Involved in transcriptional regulation. It is able to activate transcription from the CXCR4 promoter and therefore it might control neural crest cell migration involved in ocular and craniofacial development. Is a negative regulator of immune antiviral response, acting via down-regulation of RIG-I-like receptors signaling and inhibition of type I interferon production. The control mechanism involves interaction with mitochondrial MAVS and inhibition of MAVS assembly with downstream proteins implicated in antiviral response, such as TBK1 and TRAF6.

Target Involvement

GPATCH3 variants may be involved in the pathogenesis of congenital glaucoma, an ocular disease characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.

Target Subcellular Location

Nucleus. Cytoplasm.

Target Tissue Specificity

Expressed in ocular tissues including retinal pigment epithelium, cornea, ciliary muscle and non-pigmented ciliary epithelium. Also expressed in optic nerve, cartilage, skin and lymph node.

Target Synonyms

DKFZp686E0221; FLJ12455; G patch domain containing 3; G patch domain containing protein 3; G patch domain-containing protein 3; GPATC3; GPATCH3; GPTC3_HUMAN