NTAN1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NTAN1 (HGNC:29909) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- N-terminal asparagine amidase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 40.72(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.63(Read more about gnomAD LOEUF score)
- Cytoband
- 16p13.11
- Genomic Coordinates
-
GRCh37/hg19: chr16:15131714-15149931 NCBI Ensembl UCSC GRCh38/hg38: chr16:15037857-15056074 NCBI Ensembl UCSC - MANE Select Transcript
- NM_173474.4 ENST00000287706.8 (Read more about MANE Select)
- 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 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 arginylati... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5663
ClinGen Curation ID:
CCID:007582
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
09/17/2018
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
NTAN1 lies within the recurrent 16p13.11 microdeletion/ duplication region. NTAN1 is a candidate gene for the neurobehavioral phenotypes associated with these copy number variants (PMID 19786961; 26887912). However, there is no published evidence that haploinsufficiency or triplosensitivity of NTAN1 on its own is a direct causal mechanism of disease.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)