Immunogen sequence: KATYDTKRPN EETKSVDKNP CKDREKHVLE ARNNKESSGN KLLYILNPPE TQVEKEQITG QIDKSTVKPK PQLSHSSRLS SDLTRETDEA AFEPD
Highest antigen sequence identity to the following orthologs: Mouse - 75%, Rat - 75%.
This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies.
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Protein Aliases: E3 ubiquitin-protein ligase RBBP6; p53-associated cellular protein of testis; Proliferation potential-related protein; Protein P2P-R; RB-binding Q-protein 1; RBQ-1; retinoblastoma binding protein 6; Retinoblastoma-binding protein 6; retinoblastoma-binding protein 6, isoform 3; Retinoblastoma-binding Q protein 1; RING-type E3 ubiquitin transferase RBBP6
Gene Aliases: MY038; P2P-R; P2PR; PACT; RBBP6; RBQ-1; RBQ1; SNAMA
UniProt ID: (Human) Q7Z6E9
Entrez Gene ID: (Human) 5930
Molecular Function: ubiquitin-protein ligase