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Aliases for NAT8 Gene

Aliases for NAT8 Gene

  • N-Acetyltransferase 8 (Putative) 2 3
  • N-Acetyltransferase 8 (GCN5-Related, Putative) 2 3 5
  • Cysteinyl-Conjugate N-Acetyltransferase 3 4
  • Camello-Like Protein 1 3 4
  • Acetyltransferase 2 3 4
  • ATase2 3 4
  • TSC501 3 4
  • CCNAT 3 4
  • CML1 3 4
  • GLA 3 4
  • Kidney- And Liver-Specific Gene Product 3
  • N-Acetyltransferase 8 (Camello Like) 3
  • Probable N-Acetyltransferase 8 3
  • N-Acetyltransferase 8 2
  • EC 2.3.1.80 4
  • EC 2.3.1.- 4
  • EC 2.3.1 63
  • TSC510 3
  • Hcml1 3

External Ids for NAT8 Gene

Previous GeneCards Identifiers for NAT8 Gene

  • GC02M073877
  • GC02M074078
  • GC02M073842
  • GC02M073779

Summaries for NAT8 Gene

Entrez Gene Summary for NAT8 Gene

  • This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]

GeneCards Summary for NAT8 Gene

NAT8 (N-Acetyltransferase 8 (Putative)) is a Protein Coding gene. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - globo series. GO annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and lysine N-acetyltransferase activity, acting on acetyl phosphate as donor. An important paralog of this gene is NAT8B.

UniProtKB/Swiss-Prot for NAT8 Gene

  • Acetylates the free alpha-amino group of cysteine S-conjugates to form mercapturic acids (PubMed:20392701). This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241).

Gene Wiki entry for NAT8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAT8 Gene

Genomics for NAT8 Gene

Regulatory Elements for NAT8 Gene

Genomic Location for NAT8 Gene

Chromosome:
2
Start:
73,640,723 bp from pter
End:
73,642,410 bp from pter
Size:
1,688 bases
Orientation:
Minus strand

Genomic View for NAT8 Gene

Genes around NAT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAT8 Gene

Proteins for NAT8 Gene

  • Protein details for NAT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHE5-NAT8_HUMAN
    Recommended name:
    N-acetyltransferase 8
    Protein Accession:
    Q9UHE5
    Secondary Accessions:
    • O75839
    • Q6LEU4
    • Q96QI8
    • Q9UQ17

    Protein attributes for NAT8 Gene

    Size:
    227 amino acids
    Molecular mass:
    25619 Da
    Quaternary structure:
    • Interacts with PROM1. Interacts with BACE1.

neXtProt entry for NAT8 Gene

Proteomics data for NAT8 Gene at MOPED

Selected DME Specific Peptides for NAT8 Gene

Post-translational modifications for NAT8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAT8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NAT8

Domains & Families for NAT8 Gene

Gene Families for NAT8 Gene

Protein Domains for NAT8 Gene

Suggested Antigen Peptide Sequences for NAT8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHE5

UniProtKB/Swiss-Prot:

NAT8_HUMAN :
  • Contains 1 N-acetyltransferase domain.
  • Belongs to the camello family.
Domain:
  • Contains 1 N-acetyltransferase domain.
Family:
  • Belongs to the camello family.
genes like me logo Genes that share domains with NAT8: view

Function for NAT8 Gene

Molecular function for NAT8 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=64 uM for S-benzyl-L-cysteine (at 37 degrees Celsius) {ECO:0000269 PubMed:20392701}; KM=23 uM for acetyl-CoA (at 37 degrees Celsius) {ECO:0000269 PubMed:20392701}; Note=A Vmax of 4.4 nmol/min/mg enzyme toward S-benzyl-L-cysteine was estimated using crude cell extracts. A Vmax of 3.1 nmol/min/mg enzyme toward acetyl-CoA was estimated using crude cell extracts.;
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + an L-cysteine-S-conjugate = CoA + an N-acetyl L-cysteine-S-conjugate.
UniProtKB/Swiss-Prot Function:
Acetylates the free alpha-amino group of cysteine S-conjugates to form mercapturic acids (PubMed:20392701). This is the final step in a major route for detoxification of a wide variety of reactive electrophiles which starts with their incorporation into glutathione S-conjugates. The glutathione S-conjugates are then further processed into cysteine S-conjugates and finally mercapturic acids which are water soluble and can be readily excreted in urine or bile. Alternatively, may have a lysine N-acetyltransferase activity catalyzing peptidyl-lysine N6-acetylation of various proteins. Thereby, may regulate apoptosis through the acetylation and the regulation of the expression of PROM1 (PubMed:24556617). May also regulate amyloid beta-peptide secretion through acetylation of BACE1 and the regulation of its expression in neurons (PubMed:19011241).
UniProtKB/Swiss-Prot Induction:
Up-regulated by ceramides.

Enzyme Numbers (IUBMB) for NAT8 Gene

genes like me logo Genes that share phenotypes with NAT8: view

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAT8 Gene

Localization for NAT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAT8 Gene

Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAT8 Gene COMPARTMENTS Subcellular localization image for NAT8 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
chloroplast 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NAT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IDA 20392701
genes like me logo Genes that share ontologies with NAT8: view

Pathways & Interactions for NAT8 Gene

genes like me logo Genes that share pathways with NAT8: view

Pathways by source for NAT8 Gene

UniProtKB/Swiss-Prot Q9UHE5-NAT8_HUMAN

  • Pathway: Sulfur metabolism; glutathione metabolism.

Gene Ontology (GO) - Biological Process for NAT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018003 peptidyl-lysine N6-acetylation IDA 19011241
GO:0042493 response to drug TAS 9852678
GO:0044267 cellular protein metabolic process TAS --
GO:0050435 beta-amyloid metabolic process IMP 19011241
genes like me logo Genes that share ontologies with NAT8: view

No data available for SIGNOR curated interactions for NAT8 Gene

Drugs & Compounds for NAT8 Gene

No Compound Related Data Available

Transcripts for NAT8 Gene

mRNA/cDNA for NAT8 Gene

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

Unigene Clusters for NAT8 Gene

N-acetyltransferase 8 (GCN5-related, putative):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NAT8 Gene

No ASD Table

Relevant External Links for NAT8 Gene

GeneLoc Exon Structure for
NAT8
ECgene alternative splicing isoforms for
NAT8

Expression for NAT8 Gene

mRNA expression in normal human tissues for NAT8 Gene

mRNA differential expression in normal tissues according to GTEx for NAT8 Gene

This gene is overexpressed in Kidney - Cortex (x47.2) and Liver (x4.5).

Protein differential expression in normal tissues from HIPED for NAT8 Gene

This gene is overexpressed in Kidney (58.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NAT8 Gene



SOURCE GeneReport for Unigene cluster for NAT8 Gene Hs.14637

mRNA Expression by UniProt/SwissProt for NAT8 Gene

Q9UHE5-NAT8_HUMAN
Tissue specificity: Preferentially expressed in liver and kidney. Also detected in brain (at protein level).
genes like me logo Genes that share expression patterns with NAT8: view

Protein tissue co-expression partners for NAT8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for NAT8 Gene

Orthologs for NAT8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAT8 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Nat8 35
  • 71.6 (n)
  • 61.88 (a)
Nat8 16
Gm11128 36
  • 58 (a)
OneToMany
Gm4477 36
  • 57 (a)
OneToMany
Nat8 36
  • 61 (a)
OneToMany
Nat8b 36
  • 55 (a)
OneToMany
1700019G17Rik 36
  • 56 (a)
OneToMany
Cml5 36
  • 56 (a)
OneToMany
Cml3 36
  • 58 (a)
OneToMany
Cml2 36
  • 52 (a)
OneToMany
Cml1 36
  • 55 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia NAT8 35
  • 98.83 (n)
  • 99.12 (a)
NAT8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nat8 35
  • 72.22 (n)
  • 64.41 (a)
cow
(Bos Taurus)
Mammalia NAT8 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAT8 36
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 44 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
-- 36
  • 32 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 37 (a)
OneToMany
-- 36
  • 44 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 33 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CR559945.3 36
  • 34 (a)
OneToOne
Species with no ortholog for NAT8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAT8 Gene

ENSEMBL:
Gene Tree for NAT8 (if available)
TreeFam:
Gene Tree for NAT8 (if available)

Paralogs for NAT8 Gene

Paralogs for NAT8 Gene

(2) SIMAP similar genes for NAT8 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for NAT8 Gene

genes like me logo Genes that share paralogs with NAT8: view

Variants for NAT8 Gene

Sequence variations from dbSNP and Humsavar for NAT8 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs13538 - 73,641,201(-) TCTCT(C/T)TGTGG reference, missense
rs13424561 - 73,641,319(+) ACGCT(C/T)ACTCA reference, missense
rs14227 -- 73,641,502(-) GAACC(C/G)TCATA reference, missense
rs1062862 -- 73,641,097(-) ACACC(A/C/G/T)GCACC reference, missense
rs1062863 -- 73,641,093(-) CGGCA(A/C/T)CATCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NAT8 Gene

Variant ID Type Subtype PubMed ID
dgv1197e1 CNV Complex 17122850
essv105 CNV CNV 17122850
dgv4163n71 CNV Loss 21882294
nsv874276 CNV Loss 21882294
esv2720207 CNV Deletion 23290073
esv2497164 CNV Deletion 19546169
dgv707e199 CNV Deletion 23128226
nsv829460 CNV Gain 20364138
nsv818044 CNV Gain 17921354
nsv515605 CNV Loss 19592680

Variation tolerance for NAT8 Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NAT8 Gene

HapMap Linkage Disequilibrium report
NAT8
Human Gene Mutation Database (HGMD)
NAT8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAT8 Gene

Disorders for NAT8 Gene

Relevant External Links for NAT8

Genetic Association Database (GAD)
NAT8
Human Genome Epidemiology (HuGE) Navigator
NAT8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAT8

No disorders were found for NAT8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NAT8 Gene

Publications for NAT8 Gene

  1. Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels. (PMID: 19011241) Ko M.H. … Puglielli L. (J. Biol. Chem. 2009) 2 3 4 67
  2. Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids. (PMID: 20392701) Veiga-da-Cunha M. … Van Schaftingen E. (J. Biol. Chem. 2010) 3 23
  3. N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study. (PMID: 18402670) Juhanson P. … Laan M. (BMC Med. Genet. 2008) 3 23
  4. Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis. (PMID: 11397015) Popsueva A.E. … Belyavsky A.V. (Dev. Biol. 2001) 2 3
  5. Isolation and mapping of a novel human kidney- and liver-specific gene homologous to the bacterial acetyltransferases. (PMID: 9852678) Ozaki K. … Takahashi E. (J. Hum. Genet. 1998) 2 3

Products for NAT8 Gene

Sources for NAT8 Gene

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