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

    Gene ID: 55093, updated on 2-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
    mouse all
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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 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)

    Genotypes

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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