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NTAN1 Gene(Protein Coding)

N-Terminal Asparagine Amidase

GCID:
GC16M015037
GIFtS:
54
Genes Participants
UDN Logo

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
  • 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. Diseases associated with NTAN1 include Tendinitis. 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.

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

Genomics for NTAN1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for NTAN1 Gene

Enhancers for NTAN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NTAN1 on UCSC Golden Path with GeneCards custom track

Promoters for NTAN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NTAN1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for NTAN1 Gene

Chromosome:
16
Start:
15,037,853 bp from pter
End:
15,056,079 bp from pter
Size:
18,227 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for NTAN1 Gene

Proteins for NTAN1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for NTAN1 Gene at MOPED

Protein Expression for NTAN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NTAN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NTAN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NTAN1 Gene

Domains & Families for NTAN1 Gene

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 Gene Families and UniProtKB/Swiss-Prot for NTAN1 Gene

Function for NTAN1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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 for NTAN1 Gene

MGI mutant phenotypes for NTAN1:
inferred from 1 alleles
GenomeRNAi human phenotypes for NTAN1:
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

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for NTAN1 Gene COMPARTMENTS Subcellular localization image for NTAN1 gene
Compartment Confidence
nucleus 4
cytosol 3
cytoskeleton 2
golgi apparatus 2
extracellular 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for NTAN1 Gene

Pathways & Interactions for NTAN1 Gene

SuperPathways for NTAN1 Gene

PathCards logoMore details on SuperPathways for NTAN1
No Data Available

Interacting Proteins for NTAN1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000287706%0d%0a9606.ENSP00000382177%0d%0a9606.ENSP00000261839%0d%0a9606.ENSP00000285039%0d%0a9606.ENSP00000366819%0d%0a9606.ENSP00000226209%0d%0a
Selected Interacting proteins: ENSP00000287706 Q96AB6-NTAN1_HUMAN for NTAN1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for NTAN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007613 memory IEA --
GO:0008152 metabolic process 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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for NTAN1 Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(160) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NTAN1 Gene

N-terminal asparagine amidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

mRNA expression in normal human tissues for NTAN1 Gene

mRNA expression in normal human tissues for NTAN1 Gene
mRNA expression by BioGPS for NTAN1 GenemRNA expression by GTEx 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, MOPED, and MaxQB for NTAN1 Gene



SOURCE GeneReport for Unigene cluster for NTAN1 Gene Hs.592045

genes like me logo Genes that share expression patterns with NTAN1: view

Protein tissue co-expression partners for NTAN1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
 Mammalia NTAN1 35
  • 91.94 (n)
  • 94.19 (a)
NTAN1 36
  • 94 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ntan1 35
  • 89.25 (n)
  • 92.26 (a)
Ntan1 16
Ntan1 36
  • 92 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia NTAN1 35
  • 99.14 (n)
  • 99.03 (a)
NTAN1 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ntan1 35
  • 89.1 (n)
  • 91.91 (a)
dog
(Canis familiaris)
 Mammalia NTAN1 36
  • 86 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia NTAN1 36
  • 77 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 69 (a)
 OneToMany
-- 36
  • 67 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves NTAN1 35
  • 71.23 (n)
  • 69.06 (a)
NTAN1 36
  • 68 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia NTAN1 36
  • 63 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ntan1 35
  • 64.5 (n)
  • 59.28 (a)
Str.2432 35
zebrafish
(Danio rerio)
 Actinopterygii ntan1 35
  • 53.49 (n)
  • 44.19 (a)
zgc77869 35
ntan1 36
  • 39 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5805 35
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010963 35
  • 49.18 (n)
  • 43.02 (a)
fruit fly
(Drosophila melanogaster)
 Insecta SP2637 35
  • 47.21 (n)
  • 39.25 (a)
SP2637 36
  • 37 (a)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT2G44420 35
  • 45.98 (n)
  • 32.81 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 35 (a)
 OneToOne
Species with no ortholog for NTAN1:
  • 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 Sequence Context AA Info Type
VAR_051244 -
VAR_051245 -

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

Variant ID Type Subtype PubMed ID
dgv811e1 CNV Complex 17122850
dgv812e1 CNV Complex 17122850
nsv511045 OTHER Complex 20534489
nsv7277 OTHER Inversion 18451855
dgv813e1 CNV Complex 17122850
nsv905361 CNV Gain 21882294
dgv814e1 CNV Complex 17122850
essv12354 CNV CNV 17122850
nsv905369 CNV Loss 21882294
dgv2606n71 CNV Loss 21882294
dgv2607n71 CNV Gain 21882294
nsv905374 CNV Gain 21882294
dgv2608n71 CNV Loss 21882294
nsv905377 CNV Gain 21882294
nsv905380 CNV Gain 21882294
nsv509598 CNV Insertion 20534489
dgv344n27 CNV Loss 19166990
nsv457426 CNV Gain 19166990
dgv815e1 CNV Complex 17122850

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)

Relevant External Links for NTAN1 Gene

Human Gene Mutation Database (HGMD)
NTAN1

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

Disorders for NTAN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NTAN1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tendinitis
  • tendinopathy
- elite association - COSMIC cancer census association via MalaCards
Search NTAN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NTAN1

Genetic Association Database (GAD)
NTAN1
Human Genome Epidemiology (HuGE) Navigator
NTAN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NTAN1
genes like me logo Genes that share disorders with NTAN1: view

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

Publications for NTAN1 Gene

  1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PMID: 22359512) Demirkan A. … Schmitz G. (PLoS Genet. 2012) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3
  5. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. (PMID: 24823311) Guan W. … Steffen L.M. (Circ Cardiovasc Genet 2014) 3

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