NTAN1

Chr 16

N-terminal asparagine amidase

NCBI Gene: 123803 ENSG00000157045 UniProt: Q96AB6 OMIM: 615367

This enzyme deamidates N-terminal asparagine residues to aspartate as part of the N-end rule pathway for protein degradation. Mutations cause autosomal recessive intellectual disability with developmental delay, and the gene shows minimal constraint against loss-of-function variants. The condition typically presents in early childhood with global developmental delays affecting multiple neurological functions.

OMIM ResearchSummary from RefSeq, UniProt

N-terminal asparagine deamidase that mediates 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 NTAN1/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

OMIM ResearchGenerating clinical summary…

LOEUF 1.10

Clinical Summary— NTAN1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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