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Aliases for NTAN1 Gene

Aliases for NTAN1 Gene

  • N-Terminal Asparagine Amidase 2 3 5
  • Protein NH2-Terminal Asparagine Deamidase 3 4
  • Protein N-Terminal Asparagine Amidase 3 4
  • Protein N-Terminal Asn Amidase 3 4
  • Protein NTN-Amidase 3 4
  • PNAA 3 4
  • PNAD 3 4
  • Protein NH2-Terminal Asparagine Amidohydrolase 4
  • Protein N-Terminal Asparagine Amidohydrolase 3
  • EC 3.5.1.- 4

External Ids for NTAN1 Gene

Previous GeneCards Identifiers for NTAN1 Gene

  • GC16M015098
  • GC16M015039
  • GC16M015131
  • GC16M014776

Summaries for NTAN1 Gene

Entrez Gene Summary for NTAN1 Gene

  • 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]

GeneCards Summary for NTAN1 Gene

NTAN1 (N-Terminal Asparagine Amidase) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein-N-terminal asparagine amidohydrolase activity.

UniProtKB/Swiss-Prot for NTAN1 Gene

  • Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues in any position, nor on acetylated N-terminal peptidyl Asn.

Additional gene information for NTAN1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NTAN1 Gene

Genomics for NTAN1 Gene

GeneHancer (GH) Regulatory Elements for NTAN1 Gene

Promoters and enhancers for NTAN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I015054 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555.4 +0.4 363 1.8 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF213 E2F8 NTAN1 RRN3 NPIPA2 PIR54636 PDXDC1
GH16I015057 Enhancer 0.6 ENCODE 550.8 -1.8 -1830 1.2 NR2F1 ARID4B MXD4 RARA GATA3 CEBPA CUX1 NR2F6 SMAD4 MIXL1 NTAN1 RRN3 PDXDC1 NPIPP1
GH16I015052 Enhancer 0.9 ENCODE 0.8 +3.3 3270 1 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 RXRA NFYC RRN3 NTAN1 PIR54636 PDXDC1
GH16I015092 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.3 -37.9 -37859 2.1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B LOC100505915 RRN3 PARN NTAN1 PDXDC1
GH16I015041 Enhancer 0.7 ENCODE 0.4 +14.3 14287 0.9 CTCF KLF1 NRF1 MAFG KLF4 ZNF645 RAD21 YY1 ZNF316 SKIL RRN3 LOC100505915 PIR54636 NTAN1 PDXDC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NTAN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NTAN1 gene promoter:

Genomic Locations for NTAN1 Gene

Genomic Locations for NTAN1 Gene
chr16:15,037,853-15,056,079
(GRCh38/hg38)
Size:
18,227 bases
Orientation:
Minus strand
chr16:15,131,710-15,149,921
(GRCh37/hg19)

Genomic View for NTAN1 Gene

Genes around NTAN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NTAN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NTAN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NTAN1 Gene

Proteins for NTAN1 Gene

  • Protein details for NTAN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AB6-NTAN1_HUMAN
    Recommended name:
    Protein N-terminal asparagine amidohydrolase
    Protein Accession:
    Q96AB6
    Secondary Accessions:
    • Q7Z4Z0

    Protein attributes for NTAN1 Gene

    Size:
    310 amino acids
    Molecular mass:
    34677 Da
    Quaternary structure:
    • Monomer.

neXtProt entry for NTAN1 Gene

Post-translational modifications for NTAN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NTAN1 Gene

Domains & Families for NTAN1 Gene

Gene Families for NTAN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NTAN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NTAN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NTAN1: view

No data available for UniProtKB/Swiss-Prot for NTAN1 Gene

Function for NTAN1 Gene

Molecular function for NTAN1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 6.0-7.5. {ECO:0000269 PubMed:21375249};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by micromolar concentrations of copper and zinc ions.
UniProtKB/Swiss-Prot Function:
Side-chain deamidation of N-terminal asparagine residues to aspartate. Required for the ubiquitin-dependent turnover of intracellular proteins that initiate with Met-Asn. These proteins are acetylated on the retained initiator methionine and can subsequently be modified by the removal of N-acetyl methionine by acylaminoacid hydrolase (AAH). Conversion of the resulting N-terminal asparagine to aspartate by PNAD renders the protein susceptible to arginylation, polyubiquitination and degradation as specified by the N-end rule. This enzyme does not act on substrates with internal or C-terminal asparagines and does not act on glutamine residues in any position, nor on acetylated N-terminal peptidyl Asn.

Enzyme Numbers (IUBMB) for NTAN1 Gene

Phenotypes From GWAS Catalog for NTAN1 Gene

Gene Ontology (GO) - Molecular Function for NTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008418 protein-N-terminal asparagine amidohydrolase activity IEA,IDA 21375249
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NTAN1: view
genes like me logo Genes that share phenotypes with NTAN1: view

Animal Models for NTAN1 Gene

MGI Knock Outs for NTAN1:

Animal Model Products

CRISPR Products

miRNA for NTAN1 Gene

miRTarBase miRNAs that target NTAN1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NTAN1 Gene

Localization for NTAN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NTAN1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NTAN1 gene
Compartment Confidence
nucleus 4
cytosol 3
cytoskeleton 2
golgi apparatus 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NTAN1: view

Pathways & Interactions for NTAN1 Gene

SuperPathways for NTAN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IDA 21375249
GO:0007613 memory IEA --
GO:0008344 adult locomotory behavior IEA --
genes like me logo Genes that share ontologies with NTAN1: view

No data available for Pathways by source and SIGNOR curated interactions for NTAN1 Gene

Drugs & Compounds for NTAN1 Gene

(1) Additional Compounds for NTAN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NTAN1: view

Transcripts for NTAN1 Gene

Unigene Clusters for NTAN1 Gene

N-terminal asparagine amidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NTAN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2: - -
SP3:

Relevant External Links for NTAN1 Gene

GeneLoc Exon Structure for
NTAN1
ECgene alternative splicing isoforms for
NTAN1

Expression for NTAN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NTAN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NTAN1 Gene

This gene is overexpressed in Ovary (8.1) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NTAN1 Gene



Protein tissue co-expression partners for NTAN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NTAN1 Gene:

NTAN1

SOURCE GeneReport for Unigene cluster for NTAN1 Gene:

Hs.592045

Evidence on tissue expression from TISSUES for NTAN1 Gene

  • Skin(4.4)
  • Lymph node(2.9)
  • Blood(2)
  • Heart(2)
genes like me logo Genes that share expression patterns with NTAN1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NTAN1 Gene

Orthologs for NTAN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NTAN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NTAN1 33 34
  • 99.14 (n)
cow
(Bos Taurus)
Mammalia NTAN1 33 34
  • 91.94 (n)
mouse
(Mus musculus)
Mammalia Ntan1 33 16 34
  • 89.25 (n)
rat
(Rattus norvegicus)
Mammalia Ntan1 33
  • 89.1 (n)
dog
(Canis familiaris)
Mammalia NTAN1 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NTAN1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 69 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves NTAN1 33 34
  • 71.23 (n)
lizard
(Anolis carolinensis)
Reptilia NTAN1 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ntan1 33
  • 64.5 (n)
Str.2432 33
zebrafish
(Danio rerio)
Actinopterygii ntan1 33 34
  • 53.49 (n)
zgc77869 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5805 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010963 33
  • 49.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta SP2637 34 33
  • 47.21 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G44420 33
  • 45.98 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToOne
Species where no ortholog for NTAN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NTAN1 Gene

ENSEMBL:
Gene Tree for NTAN1 (if available)
TreeFam:
Gene Tree for NTAN1 (if available)

Paralogs for NTAN1 Gene

(1) SIMAP similar genes for NTAN1 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for NTAN1 Gene

genes like me logo Genes that share paralogs with NTAN1: view

No data available for Paralogs for NTAN1 Gene

Variants for NTAN1 Gene

Sequence variations from dbSNP and Humsavar for NTAN1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000100096 -- 15,051,935(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000287147 -- 15,046,029(-) T/C intron_variant
rs1000521888 -- 15,046,203(-) G/C intron_variant
rs1000573907 -- 15,046,214(-) T/C intron_variant
rs1000685994 -- 15,052,572(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NTAN1 Gene

Variant ID Type Subtype PubMed ID
dgv2755n100 CNV gain 25217958
dgv2765n100 CNV gain 25217958
dgv2770n100 CNV loss 25217958
dgv344n27 CNV loss 19166990
dgv4919n54 CNV loss 21841781
dgv4922n54 CNV loss 21841781
esv2758632 CNV gain+loss 17122850
esv2762254 CNV gain+loss 21179565
esv3570354 CNV gain 25503493
esv3638020 CNV loss 21293372
esv3638021 CNV gain 21293372
esv3638022 CNV loss 21293372
esv3638023 CNV gain 21293372
esv3892796 CNV loss 25118596
esv3892797 CNV gain 25118596
nsv1036298 CNV gain 25217958
nsv1038955 CNV loss 25217958
nsv1042130 CNV gain 25217958
nsv1050325 CNV loss 25217958
nsv1053467 CNV loss 25217958
nsv457426 CNV gain 19166990
nsv509598 CNV insertion 20534489
nsv511045 OTHER complex 20534489
nsv571527 CNV gain+loss 21841781
nsv7277 OTHER inversion 18451855

Variation tolerance for NTAN1 Gene

Residual Variation Intolerance Score: 57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.42; 96.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NTAN1 Gene

Human Gene Mutation Database (HGMD)
NTAN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NTAN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NTAN1 Gene

Disorders for NTAN1 Gene

Additional Disease Information for NTAN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NTAN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NTAN1 Gene

Publications for NTAN1 Gene

  1. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 44 58
  2. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A … EUROSPAN consortium (PLoS genetics 2012) 3 44 58
  3. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. (PMID: 19786961) Ingason A … St Clair DM (Molecular psychiatry 2011) 3 44 58
  4. Expression and biochemical characterization of the human enzyme N-terminal asparagine amidohydrolase. (PMID: 21375249) Cantor JR … Georgiou G (Biochemistry 2011) 3 4 58
  5. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PMID: 20189936) Okada Y … Kamatani N (Human molecular genetics 2010) 3 44 58

Products for NTAN1 Gene

Sources for NTAN1 Gene

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