Disease-gene associations mined from literature

Literature associating NTAN1 and type 1 diabetes mellitus 21

NTAN1 [ENSP00000287706]

Protein NH2-terminal asparagine amidohydrolase; Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N- terminal asparagine to aspartate by PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues in any position, nor on acetylated N- terminal peptidyl Asn.

Synonyms:  NTAN1,  NTAN1p,  hNTAN1,  DKFZP666E058,  H3BNJ5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM