Aliases for AGBL1 Gene
External Ids for AGBL1 Gene
Previous GeneCards Identifiers for AGBL1 Gene
Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
GeneCards Summary for AGBL1 Gene
AGBL1 (ATP/GTP Binding Protein-Like 1) is a Protein Coding gene. Diseases associated with AGBL1 include corneal dystrophy, fuchs endothelial, 8 and fuchs' endothelial dystrophy. GO annotations related to this gene include tubulin binding and metallocarboxypeptidase activity. An important paralog of this gene is AGBL2.
UniProtKB/Swiss-Prot for AGBL1 Gene
Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins. Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5.