Recombinant Human TBC1 domain family member 23 (TBC1D23)

Uniprot Id

Q9NUY8

Target Species

Human

Target Name

TBC1D23

Target Full Name

TBC1 domain family member 23

Target Function

Putative Rab GTPase-activating protein which plays a role in vesicular trafficking. Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles. Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1. Plays a role in brain development, including in cortical neuron positioning. May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth. May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge.

Target Involvement

Pontocerebellar hypoplasia 11 (PCH11)

Target Subcellular Location

Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle.

Target Tissue Specificity

Isoform 1: Widely expressed, including in fetal adult brain (corpus callosum, pons, cerebellum), spinal cord, heart, skeletal muscle, thymus and bone marrow, and at lower levels in spleen. Hardly detected in liver, kidney, colon and testis. Isoform 2: Exp

Target Synonyms

DKFZp667G062; FLJ11046; HCV non-structural protein 4A-transactivated protein 1; NS4ATP1; TBC1 domain family member 23; TBC1D23; TBC23_HUMAN

Target Background

Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in cytoplasmic vesicle and trans-Golgi network. Colocalizes with WASH complex. Implicated in pontocerebellar hypoplasia.