AGBL1 gene

ATP/GTP binding protein like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Corneal dystrophy, Fuchs endothelial, 8

From UniProt:

Corneal dystrophy, Fuchs endothelial, 8 (FECD8): A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. [MIM:615523]

Cytogenetic Location: 15q25.3, which is the long (q) arm of chromosome 15 at position 25.3

Molecular Location: base pairs 86,079,620 to 87,031,476 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q25.3, which is the long (q) arm of chromosome 15 at position 25.3
  • CCP4
  • FECD8