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NTAQ1 N-terminal glutamine amidase 1 [ Homo sapiens (human) ]

Gene ID: 55093, updated on 27-Nov-2024

Summary

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Official Symbol
NTAQ1provided by HGNC
Official Full Name
N-terminal glutamine amidase 1provided by HGNC
Primary source
HGNC:HGNC:25490
See related
Ensembl:ENSG00000156795 MIM:620846; AllianceGenome:HGNC:25490
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WDYHV1; C8orf32
Summary
Predicted to enable protein-N-terminal glutamine amidohydrolase activity. Predicted to be involved in protein modification process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 1.6), ovary (RPKM 1.2) and 25 other tissues See more
Orthologs
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Genomic context

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See NTAQ1 in Genome Data Viewer
Location:
8q24.13
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (123416725..123475696)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (124547829..124606788)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124428965..124460331)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATPase family AAA domain containing 2 Neighboring gene deoxyuridine triphosphatase pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124405259-124405759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27874 Neighboring gene Sharpr-MPRA regulatory region 2006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124422560-124423060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124423061-124423561 Neighboring gene MPRA-validated peak7156 silencer Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19499 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:124429186-124429780 Neighboring gene uncharacterized LOC124902105 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:124491440-124491940 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:124491941-124492441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:124518725-124519269 Neighboring gene F-box protein 32 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:124539974-124541173 Neighboring gene MPRA-validated peak7157 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19504 Neighboring gene RN7SK pseudogene 155

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Crystal structure of human protein N-terminal glutamine amidohydrolase, an initial component of the N-end rule pathway. Park MS, et al. PLoS One, 2014. PMID 25356641, Free PMC Article
  2. Glutamine-specific N-terminal amidase, a component of the N-end rule pathway. Wang H, et al. Mol Cell, 2009 Jun 26. PMID 19560421, Free PMC Article
  3. Five enzymes of the Arg/N-degron pathway form a targeting complex: The concept of superchanneling. Oh JH, et al. Proc Natl Acad Sci U S A, 2020 May 19. PMID 32366662, Free PMC Article
  4. A proteome-scale map of the SARS-CoV-2-human contactome. Kim DK, et al. Nat Biotechnol, 2023 Jan. PMID 36217029, Free PMC Article
  5. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. the peptide backbone recognition patch of hNtaq1 forms nonspecific interactions with N-terminal peptides of substrate proteins
    Title: Crystal structure of human protein N-terminal glutamine amidohydrolase, an initial component of the N-end rule pathway.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10204

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-N-terminal asparagine amidohydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein-N-terminal glutamine amidohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-N-terminal glutamine amidohydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in protein modification process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
protein N-terminal glutamine amidohydrolase
Names
N-terminal Gln amidase
WDYHV motif containing 1
WDYHV motif-containing protein 1
nt(Q)-amidase
protein NH2-terminal glutamine deamidase
NP_001269953.1
NP_001269956.1
NP_060494.1
XP_006716660.1
XP_047277879.1
XP_054216719.1
XP_054216720.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001283024.1 → NP_001269953.1  protein N-terminal glutamine amidohydrolase isoform 2

    See identical proteins and their annotated locations for NP_001269953.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR which results in the use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC021305, AK293492
    Consensus CDS
    CCDS64965.1
    UniProtKB/TrEMBL
    A0A3B3ITI2
    Related
    ENSP00000430427.1, ENST00000523984.5
    Conserved Domains (1) summary
    pfam09764
    Location:1 → 132
    Nt_Gln_amidase; N-terminal glutamine amidase

  2. NM_001283027.1 → NP_001269956.1  protein N-terminal glutamine amidohydrolase isoform 3

    See identical proteins and their annotated locations for NP_001269956.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and has an alternate internal exon compared to variant 1. These differences cause translation initiation at a alternate start codon compared to variant 1. The encoded isoform (3) is shorter and has a disntinct N-teminus compared to isoform 1.
    Source sequence(s)
    AC021305, AU119047, BG528966
    Conserved Domains (1) summary
    pfam09764
    Location:11 → 124
    Nt_Gln_amidase; N-terminal glutamine amidase

  3. NM_018024.3 → NP_060494.1  protein N-terminal glutamine amidohydrolase isoform 1

    See identical proteins and their annotated locations for NP_060494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC021305, AK001066
    Consensus CDS
    CCDS6344.1
    UniProtKB/Swiss-Prot
    B4DE68, Q96HA8, Q9NW95
    Related
    ENSP00000287387.2, ENST00000287387.7
    Conserved Domains (1) summary
    pfam09764
    Location:23 → 192
    Nt_Gln_amidase; N-terminal glutamine amidase

RNA

  1. NR_133926.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon and includes an alternate 3' terminal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC021305, AK001066, AL528914

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    123416725..123475696
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421923.1 → XP_047277879.1  protein N-terminal glutamine amidohydrolase isoform X2

  2. XM_006716597.4 → XP_006716660.1  protein N-terminal glutamine amidohydrolase isoform X1

    UniProtKB/TrEMBL
    E5RHC2
    Related
    ENSP00000428615.1, ENST00000523356.1
    Conserved Domains (1) summary
    pfam09764
    Location:23 → 182
    Nt_Gln_amidase; N-terminal glutamine amidase

RNA

  1. XR_007060742.1 RNA Sequence

  2. XR_002956636.2 RNA Sequence

  3. XR_002956635.2 RNA Sequence

  4. XR_007060741.1 RNA Sequence

  5. XR_007060738.1 RNA Sequence

  6. XR_007060736.1 RNA Sequence

  7. XR_928337.4 RNA Sequence

  8. XR_007060739.1 RNA Sequence

  9. XR_007060740.1 RNA Sequence

  10. XR_007060737.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    124547829..124606788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360745.1 → XP_054216720.1  protein N-terminal glutamine amidohydrolase isoform X2

  2. XM_054360744.1 → XP_054216719.1  protein N-terminal glutamine amidohydrolase isoform X1

RNA

  1. XR_008487860.1 RNA Sequence

  2. XR_008487858.1 RNA Sequence

  3. XR_008487859.1 RNA Sequence

  4. XR_008487857.1 RNA Sequence

  5. XR_008487855.1 RNA Sequence

  6. XR_008487856.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96HA8.2 GenPept UniProtKB/Swiss-Prot:Q96HA8

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