Disease-gene associations mined from literature

Literature associating ATE1 and Johanson-Blizzard syndrome

ATE1 [ENSP00000224652]

Arginine-tRNA--protein transferase 1; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity).

Synonyms:  ATE1,  ATE1p,  hATE1,  ATE1-001,  ATE1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM