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Aliases for NAT8B Gene

Aliases for NAT8B Gene

  • N-Acetyltransferase 8B (Putative, Gene/Pseudogene) 2 3
  • N-Acetyltransferase 8B (GCN5-Related, Putative, Gene/Pseudogene) 2 3 5
  • Camello-Like Protein 2 3 4
  • Acetyltransferase 1 3 4
  • ATase1 3 4
  • CML2 3 4
  • N-Acetyltransferase 8B (Gene/Pseudogene) 2
  • Probable N-Acetyltransferase 8B 3
  • N-Acetyltransferase Camello 2 3
  • EC 2.3.1.- 4
  • EC 2.3.1 63
  • NAT8BP 3
  • Hcml2 3

External Ids for NAT8B Gene

Previous GeneCards Identifiers for NAT8B Gene

  • GC02M073782
  • GC02M073928

Summaries for NAT8B Gene

Entrez Gene Summary for NAT8B Gene

  • The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. [provided by RefSeq, Jul 2008]

GeneCards Summary for NAT8B Gene

NAT8B (N-Acetyltransferase 8B (Putative, Gene/Pseudogene)) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Transport to the Golgi and subsequent modification. GO annotations related to this gene include N-acetyltransferase activity and lysine N-acetyltransferase activity, acting on acetyl phosphate as donor. An important paralog of this gene is NAT8.

UniProtKB/Swiss-Prot for NAT8B Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAT8B Gene

Genomics for NAT8B Gene

Regulatory Elements for NAT8B Gene

Enhancers for NAT8B 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 NAT8B on UCSC Golden Path with GeneCards custom track

Genomic Location for NAT8B Gene

Chromosome:
2
Start:
73,700,509 bp from pter
End:
73,701,340 bp from pter
Size:
832 bases
Orientation:
Minus strand

Genomic View for NAT8B Gene

Genes around NAT8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAT8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAT8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAT8B Gene

Proteins for NAT8B Gene

  • Protein details for NAT8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHF3-NAT8B_HUMAN
    Recommended name:
    Putative N-acetyltransferase 8B
    Protein Accession:
    Q9UHF3
    Secondary Accessions:
    • Q0VAD9
    • Q6NT18

    Protein attributes for NAT8B Gene

    Size:
    227 amino acids
    Molecular mass:
    25366 Da
    Quaternary structure:
    • Interacts with PROM1. Interacts with BACE1.

neXtProt entry for NAT8B Gene

Proteomics data for NAT8B Gene at MOPED

Selected DME Specific Peptides for NAT8B Gene

Post-translational modifications for NAT8B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NAT8B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for NAT8B Gene

Protein Domains for NAT8B Gene

Suggested Antigen Peptide Sequences for NAT8B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UHF3

UniProtKB/Swiss-Prot:

NAT8B_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 NAT8B: view

No data available for Gene Families for NAT8B Gene

Function for NAT8B Gene

Molecular function for NAT8B Gene

UniProtKB/Swiss-Prot Function:
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 NAT8B Gene

genes like me logo Genes that share phenotypes with NAT8B: view

Animal Model Products

CRISPR Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NAT8B Gene

Localization for NAT8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAT8B Gene

Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Enriched in the Endoplasmic reticulum-Golgi intermediate compartment.

Gene Ontology (GO) - Cellular Components for NAT8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane NAS 11397015
genes like me logo Genes that share ontologies with NAT8B: view

No data available for Subcellular locations from COMPARTMENTS for NAT8B Gene

Pathways & Interactions for NAT8B Gene

genes like me logo Genes that share pathways with NAT8B: view

Pathways by source for NAT8B Gene

1 BioSystems pathway for NAT8B Gene
2 Reactome pathways for NAT8B Gene

Interacting Proteins for NAT8B Gene

Selected Interacting proteins: Q9UHF3-NAT8B_HUMAN for NAT8B Gene via I2D

Gene Ontology (GO) - Biological Process for NAT8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001702 gastrulation with mouth forming second NAS 11397015
GO:0018003 peptidyl-lysine N6-acetylation IDA 19011241
GO:0044267 cellular protein metabolic process TAS --
GO:0050435 beta-amyloid metabolic process IMP 19011241
genes like me logo Genes that share ontologies with NAT8B: view

No data available for SIGNOR curated interactions for NAT8B Gene

Drugs & Compounds for NAT8B Gene

No Compound Related Data Available

Transcripts for NAT8B Gene

mRNA/cDNA for NAT8B Gene

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

Unigene Clusters for NAT8B Gene

N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NAT8B Gene

No ASD Table

Relevant External Links for NAT8B Gene

GeneLoc Exon Structure for
NAT8B
ECgene alternative splicing isoforms for
NAT8B

Expression for NAT8B Gene

mRNA expression in normal human tissues for NAT8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NAT8B Gene

This gene is overexpressed in Kidney (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NAT8B Gene



SOURCE GeneReport for Unigene cluster for NAT8B Gene Hs.278983

genes like me logo Genes that share expression patterns with NAT8B: view

Protein tissue co-expression partners for NAT8B Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NAT8B Gene

Orthologs for NAT8B Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAT8B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NAT8 35
  • 74.85 (n)
  • 62.95 (a)
dog
(Canis familiaris)
Mammalia NAT8B 35
  • 73.79 (n)
  • 61.82 (a)
mouse
(Mus musculus)
Mammalia Cml1 35
  • 71.62 (n)
  • 59.46 (a)
Nat8f1 16
chimpanzee
(Pan troglodytes)
Mammalia NAT8B 35
  • 98.53 (n)
  • 97.36 (a)
rat
(Rattus norvegicus)
Mammalia Cml1 35
  • 74.36 (n)
  • 63.35 (a)
chicken
(Gallus gallus)
Aves NAT8B 35
  • 54.55 (n)
  • 42.73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489358 35
  • 50.39 (n)
  • 42.25 (a)
Species with no ortholog for NAT8B:
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NAT8B Gene

ENSEMBL:
Gene Tree for NAT8B (if available)
TreeFam:
Gene Tree for NAT8B (if available)

Paralogs for NAT8B Gene

Paralogs for NAT8B Gene

(2) SIMAP similar genes for NAT8B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NAT8B: view

Variants for NAT8B Gene

Sequence variations from dbSNP and Humsavar for NAT8B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1879660 -- 73,700,637(+) GCTCA(A/C/G/T)GCAGG nc-transcript-variant, reference, synonymous-codon
rs2947845 -- 73,703,229(-) CACCA(C/T)ACCAT upstream-variant-2KB
rs2947847 -- 73,702,738(-) GCCTC(C/T)CCAAC upstream-variant-2KB
rs4852974 -- 73,700,804(+) GCCCT(A/C/G)GTCCC nc-transcript-variant, reference, stop-gained
rs2001436 -- 73,701,838(-) CTTGG(A/T)CACAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NAT8B Gene

Variant ID Type Subtype PubMed ID
dgv1197e1 CNV Complex 17122850
essv105 CNV CNV 17122850
dgv4163n71 CNV Loss 21882294
nsv874276 CNV Loss 21882294
dgv4164n71 CNV Gain 21882294
nsv441760 CNV CNV 18776908
nsv829461 CNV Gain 20364138
esv34157 CNV Loss 18971310
nsv834260 CNV Gain 17160897

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for NAT8B Gene

Disorders for NAT8B Gene

Relevant External Links for NAT8B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NAT8B

No disorders were found for NAT8B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NAT8B Gene

Publications for NAT8B 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. Human-specific nonsense mutations identified by genome sequence comparisons. (PMID: 16395595) Hahn Y. … Lee B. (Hum. Genet. 2006) 2 3
  3. 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
  4. Post-translational regulation of CD133 by ATase1/ATase2-mediated lysine acetylation. (PMID: 24556617) Mak A.B. … Moffat J. (J. Mol. Biol. 2014) 3
  5. The endoplasmic reticulum-based acetyltransferases, ATase1 and ATase2, associate with the oligosaccharyltransferase to acetylate correctly folded polypeptides. (PMID: 25301944) Ding Y. … Puglielli L. (J. Biol. Chem. 2014) 3

Products for NAT8B Gene

Sources for NAT8B Gene

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