NTAQ1

N-terminal glutamine amidase 1

Basic information

Region (hg38): 8:123416725-123470028

Previous symbols: [ "C8orf32", "WDYHV1" ]

Links

ENSG00000156795 ∙ NCBI:55093 ∙ ∙ HGNC:25490 ∙ Uniprot:Q96HA8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NTAQ1 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NTAQ1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in NTAQ1

This is a list of pathogenic ClinVar variants found in the NTAQ1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-123427974-A-G		not specified	Uncertain significance (Jan 23, 2023)
8-123436592-A-G		not specified	Uncertain significance (Jul 26, 2022)
8-123437271-A-G		not specified	Uncertain significance (Dec 28, 2022)
8-123437300-G-C		not specified	Uncertain significance (Dec 06, 2023)
8-123441312-A-G		not specified	Uncertain significance (Jun 18, 2021)
8-123441345-C-T		not specified	Uncertain significance (Dec 11, 2023)
8-123441365-G-A		not specified	Uncertain significance (Jan 31, 2022)
8-123441380-G-A		not specified	Uncertain significance (Apr 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NTAQ1	protein_coding	protein_coding	ENST00000287387	6	50506

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000824	0.533	125721	0	26	125747	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.343	99	109	0.908	0.00000551	1357
Missense in Polyphen		35	43.22	0.80982		558
Synonymous	-0.215	42	40.3	1.04	0.00000233	348
Loss of Function	0.712	9	11.6	0.775	5.77e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000109	0.000109
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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 arginylation, polyubiquitination and degradation as specified by the N-end rule. Does not act on substrates with internal or C- terminal glutamine and does not act on non-glutamine residues in any position. Does not deaminate acetylated N-terminal glutamine. With the exception of proline, all tested second-position residues on substrate peptides do not greatly influence the activity. In contrast, a proline at position 2, virtually abolishes deamidation of N-terminal glutamine. {ECO:0000250|UniProtKB:Q80WB5}.

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.756
• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.62

Haploinsufficiency Scores

• pHI: 0.0435
• hipred: N
• hipred_score: 0.219
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.871

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Wdyhv1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: cellular protein modification process
• Cellular component: nucleus;cytosol
• Molecular function: protein binding;protein-N-terminal asparagine amidohydrolase activity;protein-N-terminal glutamine amidohydrolase activity