• Gene id: 123803

Gene Summary

• Gene Symbol: NTAN1   Gene   UCSC   Ensembl
• Aliases: PNAA, PNAD
• Gene name: N-terminal asparagine amidase
• Alternate names: protein N-terminal asparagine amidohydrolase, protein N-terminal Asn amidase, protein N-terminal asparagine amidase, protein NH2-terminal asparagine deamidase, protein NTN-amidase,
• Gene location: 16p13.11 (15056078: 15037852)     Exons: 11     NC_000016.10
• Gene summary(Entrez): The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp
• OMIM: 615367

Protein Summary

• Protein general information: Q96AB6  
  • Name: Protein N terminal asparagine amidohydrolase (EC 3.5.1.121) (Protein NH2 terminal asparagine amidohydrolase) (PNAA) (Protein NH2 terminal asparagine deamidase) (PNAD) (Protein N terminal Asn amidase) (Protein N terminal asparagine amidase) (Protein NTN am
  • Length: 310  
  • Mass: 34677
• Sequence:

  MPLLVEGRRVRLPQSAGDLVRAHPPLEERARLLRGQSVQQVGPQGLLYVQQRELAVTSPKDGSISILGSDDATTC
  HIVVLRHTGNGATCLTHCDGTDTKAEVPLIMNSIKSFSDHAQCGRLEVHLVGGFSDDRQLSQKLTHQLLSEFDRQ
  EDDIHLVTLCVTELNDREENENHFPVIYGIAVNIKTAEIYRASFQDRGPEEQLRAARTLAGGPMISIYDAETEQL
  RIGPYSWTPFPHVDFWLHQDDKQILENLSTSPLAEPPHFVEHIRSTLMFLKKHPSPAHTLFSGNKALLYKKNEDG
  LWEKISSPGS

• Structural information:
  • Interpro: IPR026750  
  • PDB: 6A0E 6A0F 6A0H 6A0I
  • PDBsum: 6A0E 6A0F 6A0H 6A0I
  • STRING: ENSP00000287706
• Other Databases: GeneCards:  NTAN1  Malacards:  NTAN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0008418	protein-N-terminal asparagine amidohydrolase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0008418	protein-N-terminal asparagine amidohydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007613	memory	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008418	protein-N-terminal asparagine amidohydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008418	protein-N-terminal asparagine amidohydrolase activity	IDA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray