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    NTAN1 N-terminal asparagine amidase [ Homo sapiens (human) ]

    Gene ID: 123803, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NTAN1provided by HGNC
    Official Full Name
    N-terminal asparagine amidaseprovided by HGNC
    Primary source
    HGNC:HGNC:29909
    See related
    Ensembl:ENSG00000157045 MIM:615367; AllianceGenome:HGNC:29909
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PNAA; PNAD
    Summary
    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. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in fat (RPKM 16.9), urinary bladder (RPKM 16.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NTAN1 in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15037857..15056074, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15038909..15057126, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15131714..15149931, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene pyridoxal dependent decarboxylase domain containing 1 Neighboring gene KIAA2013 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15106867-15106972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15109763-15110264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15110265-15110764 Neighboring gene microRNA 1972-1 Neighboring gene Sharpr-MPRA regulatory region 1947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15120969-15121592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15121593-15122216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15122498-15123030 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15149302-15149486 Neighboring gene MPRA-validated peak2507 silencer Neighboring gene RRN3 homolog, RNA polymerase I transcription factor Neighboring gene Sharpr-MPRA regulatory region 13846 Neighboring gene uncharacterized LOC100505915 Neighboring gene PKD1P6-NPIPP1 readthrough Neighboring gene nuclear pore complex interacting protein pseudogene 1

    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. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Ingason A, et al. Mol Psychiatry, 2011 Jan. PMID 19786961, Free PMC Article
    2. Expression and biochemical characterization of the human enzyme N-terminal asparagine amidohydrolase. Cantor JR, et al. Biochemistry, 2011 Apr 12. PMID 21375249, Free PMC Article
    3. Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. Kamdem LK, et al. Pharmacogenet Genomics, 2008 Jun. PMID 18496130
    4. 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
    5. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. Okada Y, et al. Hum Mol Genet, 2010 Jun 1. PMID 20189936

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results indicate that hNTAN1 is highly selective for the hydrolysis of N-terminal peptidyl L-Asn.
      Title: Expression and biochemical characterization of the human enzyme N-terminal asparagine amidohydrolase.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia.
    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2018-09-17)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2018-09-17)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog

    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

    • FLJ54159, DKFZp666E058

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-N-terminal asparagine amidohydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein N-terminal asparagine amidohydrolase
    Names
    protein N-terminal Asn amidase
    protein N-terminal asparagine amidase
    protein NH2-terminal asparagine deamidase
    protein NTN-amidase
    NP_001257695.1
    NP_001257696.1
    NP_775745.1
    XP_011520657.1
    XP_047289543.1
    XP_047289544.1
    XP_054185028.1
    XP_054235516.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001270766.2 → NP_001257695.1  protein N-terminal asparagine amidohydrolase isoform 2

      See identical proteins and their annotated locations for NP_001257695.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate in-frame downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      BC017336, DC383993, HY036316
      Consensus CDS
      CCDS73832.1
      UniProtKB/TrEMBL
      A0A087X0T5
      Related
      ENSP00000485340.1, ENST00000624579.3
      Conserved Domains (1) summary
      pfam14736
      Location:1 → 199
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase

    2. NM_001270767.2 → NP_001257696.1  protein N-terminal asparagine amidohydrolase isoform 2

      See identical proteins and their annotated locations for NP_001257696.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate in-frame downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      BC017336, BF939373, HY036316
      Consensus CDS
      CCDS73832.1
      UniProtKB/TrEMBL
      A0A087X0T5
      Related
      ENSP00000483643.1, ENST00000622833.4
      Conserved Domains (1) summary
      pfam14736
      Location:1 → 199
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase

    3. NM_173474.4 → NP_775745.1  protein N-terminal asparagine amidohydrolase isoform 1

      See identical proteins and their annotated locations for NP_775745.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longesr transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC017336, HY036316
      Consensus CDS
      CCDS10558.1
      UniProtKB/Swiss-Prot
      Q7Z4Z0, Q96AB6
      Related
      ENSP00000287706.3, ENST00000287706.8
      Conserved Domains (1) summary
      pfam14736
      Location:39 → 304
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      15037857..15056074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433587.1 → XP_047289543.1  protein N-terminal asparagine amidohydrolase isoform X2

      UniProtKB/TrEMBL
      A0A087X0T5

    2. XM_047433588.1 → XP_047289544.1  protein N-terminal asparagine amidohydrolase isoform X2

      UniProtKB/TrEMBL
      A0A087X0T5

    3. XM_011522355.3 → XP_011520657.1  protein N-terminal asparagine amidohydrolase isoform X1

      See identical proteins and their annotated locations for XP_011520657.1

      Conserved Domains (1) summary
      pfam14736
      Location:36 → 221
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      613605..631830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329053.1 → XP_054185028.1  protein N-terminal asparagine amidohydrolase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      15038909..15057126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379541.1 → XP_054235516.1  protein N-terminal asparagine amidohydrolase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AB6.3 GenPept UniProtKB/Swiss-Prot:Q96AB6

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