Immunogen sequence: KNTITLEVHQ AYSTEYETIA ACQLKFHEIL EKSGRIFCTA SLIGTKGDIP NFGTVEYWFR LRVPMDQAIR LYRERAKALG YITSNFKGPE HMQSLSQQAP KTAQLSSTDS TDGNL
Highest antigen sequence identity to the following orthologs: Mouse - 85%, Rat - 87%.
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 and Meckel syndrome type 5. Two transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: CORS3; DKFZp686C0668; fantom homolog; JBTS7; KIAA1005; MKS5; Nephrocystin-8; Protein fantom; protein phosphatase 1, regulatory subunit 134; RPGR-interacting protein 1-like protein; RPGRIP1-like; RPGRIP1-like protein
Gene Aliases: CORS3; FTM; JBTS7; KIAA1005; MKS5; NPHP8; PPP1R134; RPGRIP1L
UniProt ID: (Human) Q68CZ1
Entrez Gene ID: (Human) 23322