NTAQ1 (N-terminal glutamine amidase 1)

Gene

• Entrez ID: 55093
• Gene name: N-terminal glutamine amidase 1
• Gene symbol: NTAQ1
• Synonyms (NCBI Gene): C8orf32, WDYHV1
• Chromosome: 8
• Chromosome location: 8q24.13

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 16713569, 19060904, 21516116, 25416956, 27107012, 28514442, 29892012, 31515488, 32296183, 33961781, 36217029, 36217030
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0008418	Function	Protein-N-terminal asparagine amidohydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016811	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0036211	Process	Protein modification process	ISS
GO:0070773	Function	Protein-N-terminal glutamine amidohydrolase activity	IBA
GO:0070773	Function	Protein-N-terminal glutamine amidohydrolase activity	IEA
GO:0070773	Function	Protein-N-terminal glutamine amidohydrolase activity	ISS

Other IDs

• MIM: 620846
• HGNC: 25490
• e!Ensembl: ENSG00000156795

Protein

• UniProt ID: Q96HA8
• Protein name: Protein N-terminal glutamine amidohydrolase (EC 3.5.1.122) (Protein NH2-terminal glutamine deamidase) (N-terminal Gln amidase) (Nt(Q)-amidase) (WDYHV motif-containing protein 1)
• Protein function: Mediates the side-chain deamidation of N-terminal glutamine residues to glutamate, an important step in N-end rule pathway of protein degradation. Conversion of the resulting N-terminal glutamine to glutamate renders the protein susceptible to a
• PDB: 3C9Q, 4W79, 6KGJ, 8JJF, 8JJG, 8JJH, 8JJI, 8JJU, 8JJW, 8JJX, 8JJY, 8JJZ, 8JK0, 8JK1, 8JK2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09764	Nt_Gln_amidase	23 → 200	N-terminal glutamine amidase	Family

• Sequence:

  MEGNGPAAVHYQPASPPRDACVYSSCYCEENIWKLCEYIKNHDQYPLEECYAVFISNERK
  MIPIWKQQARPGDGPVIWDYHVVLLHVSSGGQNFIYDLDTVLPFPCLFDTYVEDAFKSDD
  DIHPQFRRKFRVIRADSYLKNFASDRSHMKDSSGNWREPPPPYPCIETGDSKMNLNDFIS
  MDPKVGWGAVYTLSEFTHRFGSKNC

• Sequence length: 205

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations