Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123803
Gene name Gene Name - the full gene name approved by the HGNC.
N-terminal asparagine amidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NTAN1
Synonyms (NCBI Gene) Gene synonyms aliases
PNAA, PNAD
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048539 hsa-miR-100-5p CLASH 23622248
MIRT1196034 hsa-miR-1202 CLIP-seq
MIRT1196035 hsa-miR-18a CLIP-seq
MIRT1196036 hsa-miR-18b CLIP-seq
MIRT1196037 hsa-miR-1972 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0006511 Process Ubiquitin-dependent protein catabolic process IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615367 29909 ENSG00000157045
Protein
UniProt ID Q96AB6
Protein 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
Protein function 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 re
PDB 6A0E , 6A0F , 6A0H , 6A0I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14736 N_Asn_amidohyd 36 304 Protein N-terminal asparagine amidohydrolase Family
Sequence
Sequence length 310
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Dyslexia Associate 19786961
Inflammatory Bowel Diseases Associate 8119529
Neoplasms Associate 32577795
von Willebrand Disease Type 2 Associate 32577795