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

Gene ID: 18203, updated on 6-Jun-2024

Summary

Official Symbol
Ntan1provided by MGI
Official Full Name
N-terminal Asn amidaseprovided by MGI
Primary source
MGI:MGI:108471
See related
Ensembl:ENSMUSG00000022681 AllianceGenome:MGI:108471
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
RS_2024_02 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)

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 STARR-seq mESC enhancer starr_40163 Neighboring gene STARR-positive B cell enhancer ABC_E8619 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)
  • Endonuclease-mediated (1) 
  • Targeted (1)  1 citation

General gene information

Markers

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
 
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
 
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
 
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_001412925.1
NP_001412926.1
NP_001412927.1
NP_001412928.1
NP_001412929.1
NP_001412930.1
NP_035076.1
XP_030104855.1

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_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
    D3YZ99, 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_001425996.1NP_001412925.1  protein N-terminal asparagine amidohydrolase isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC107769
    UniProtKB/TrEMBL
    Q8BRX4
  8. NM_001425997.1NP_001412926.1  protein N-terminal asparagine amidohydrolase isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC107769
    UniProtKB/TrEMBL
    Q8BRX4
  9. NM_001425998.1NP_001412927.1  protein N-terminal asparagine amidohydrolase isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC107769
  10. NM_001425999.1NP_001412928.1  protein N-terminal asparagine amidohydrolase isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC107769
    UniProtKB/TrEMBL
    Q8BRX4
  11. NM_001426000.1NP_001412929.1  protein N-terminal asparagine amidohydrolase isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC107769
  12. NM_001426001.1NP_001412930.1  protein N-terminal asparagine amidohydrolase isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC107769
  13. 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: GCF_000001635.27-RS_2024_02

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