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    Ntan1 N-terminal Asn amidase [ Mus musculus (house mouse) ]

    Gene ID: 18203, updated on 23-Jun-2021

    Summary

    Official Symbol
    Ntan1provided by MGI
    Official Full Name
    N-terminal Asn amidaseprovided by MGI
    Primary source
    MGI:MGI:108471
    See related
    Ensembl:ENSMUSG00000022681
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PNAA; PNAD
    Summary
    The protein encoded by this gene functions in a step-wise protein degradation process through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asparagine residues on proteins to produce N-terminal L-Aspartate. L-Aspartate substrates are subsequently conjugated to L-Arginine, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Mice with a knock-out of this gene are viable, fertile, and outwardly normal, but show impairments in spontaneous activity and spatial memory, relative to their wild-type counterparts. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 21.0), CNS E18 (RPKM 20.8) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Ntan1 in Genome Data Viewer
    Location:
    16 A1; 16 9.64 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (13636629..13653314)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (13818834..13835450)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (13819370..13835543)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene elongin-B pseudogene Neighboring gene RRN3 RNA polymerase I transcription factor homolog (yeast) Neighboring gene pyridoxal-dependent decarboxylase domain containing 1 Neighboring gene nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene Neighboring gene Mpv17 transgene, kidney disease mutant-like Neighboring gene laminin, gamma 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    protein N-terminal asparagine amidohydrolase
    Names
    asparagine-specific N-terminal amidase
    protein N-terminal Asn amidase
    protein NH2-terminal asparagine amidohydrolase
    protein NH2-terminal asparagine deamidase
    protein NTN-amidase
    NP_001333035.1
    NP_001333036.1
    NP_001333037.1
    NP_001333038.1
    NP_001333039.1
    NP_001333040.1
    NP_035076.1
    XP_006521913.1
    XP_006521914.1
    XP_006521918.1
    XP_030104855.1
    XP_030104856.1
    XP_030104857.1
    XP_030104860.1

    NCBI Reference Sequences (RefSeq)

    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_001346106.1NP_001333035.1  protein N-terminal asparagine amidohydrolase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC107769, AK041112, AW492524, BY168976, BY254590
      Consensus CDS
      CCDS88878.1
      UniProtKB/TrEMBL
      Q8BRX4
      Related
      ENSMUSP00000111472.3, ENSMUST00000115805.3
    2. NM_001346107.1NP_001333036.1  protein N-terminal asparagine amidohydrolase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses alternate splice sites in the 3' coding region which result in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC107769, AK041112, AW492524, BY168976, BY254590
      UniProtKB/TrEMBL
      Q8BRX4
    3. NM_001346108.1NP_001333037.1  protein N-terminal asparagine amidohydrolase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate start codon, and lacks an alternate exon in the 5' coding region, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC107769, AW492524, BG070912, BY254590, CK617520
      Related
      ENSMUST00000136618.8
    4. NM_001346109.1NP_001333038.1  protein N-terminal asparagine amidohydrolase isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate start codon, and lacks two alternate exons in the 5' coding region, compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC107769, AK041112, AW492524, BY254590, CJ057344, CK617520
      UniProtKB/TrEMBL
      Q8BRX4
    5. NM_001346110.1NP_001333039.1  protein N-terminal asparagine amidohydrolase isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, uses an alternate start codon, and lacks two alternate exons in the coding region, compared to variant 1. The encoded isoform (6) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC107769, AW492524, BY254590, CK617520
    6. NM_001346111.1NP_001333040.1  protein N-terminal asparagine amidohydrolase isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, uses an alternate start codon, and lacks three alternate exons in the coding region, compared to variant 1. The encoded isoform (7) is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC107769, AW492524, BY254590, CJ057344, CK617520
    7. NM_010946.4NP_035076.1  protein N-terminal asparagine amidohydrolase isoform 1

      See identical proteins and their annotated locations for NP_035076.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC107769, AK041112, AW492524, BY168976, BY254590
      Consensus CDS
      CCDS27969.1
      UniProtKB/Swiss-Prot
      Q64311
      UniProtKB/TrEMBL
      Q8BRX4
      Related
      ENSMUSP00000023362.9, ENSMUST00000023362.15
      Conserved Domains (1) summary
      pfam14736
      Location:39304
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase

    RNA

    1. NR_144374.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks two alternate internal exons and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC107769, AW492524, BY254590, CK617520

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      13636629..13653314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248995.2XP_030104855.1  protein N-terminal asparagine amidohydrolase isoform X2

      Conserved Domains (1) summary
      pfam14736
      Location:54278
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase
    2. XM_030248997.2XP_030104857.1  protein N-terminal asparagine amidohydrolase isoform X6

      Conserved Domains (1) summary
      pfam14736
      Location:54240
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase
    3. XM_006521850.5XP_006521913.1  protein N-terminal asparagine amidohydrolase isoform X1

      Conserved Domains (1) summary
      pfam14736
      Location:39286
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase
    4. XM_030248996.2XP_030104856.1  protein N-terminal asparagine amidohydrolase isoform X5

      Conserved Domains (1) summary
      pfam14736
      Location:39248
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase
    5. XM_006521851.5XP_006521914.1  protein N-terminal asparagine amidohydrolase isoform X3

      Conserved Domains (1) summary
      pfam14736
      Location:35277
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase
    6. XM_006521855.5XP_006521918.1  protein N-terminal asparagine amidohydrolase isoform X4

      Conserved Domains (1) summary
      pfam14736
      Location:54256
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase
    7. XM_030249000.2XP_030104860.1  protein N-terminal asparagine amidohydrolase isoform X7

      Conserved Domains (1) summary
      pfam14736
      Location:54218
      N_Asn_amidohyd; Protein N-terminal asparagine amidohydrolase
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