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NAT8B Gene

protein-coding   GIFtS: 38
GCID: GC02M073928

N-Acetyltransferase 8B (GCN5-Related, Putative, Gene/Pseudogene)

(Previous name: N-acetyltransferase 8B (gene/pseudogene))
  Search for NAT8B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Acetyltransferase 8B (GCN5-Related, Putative, Gene/Pseudogene)1 2     NAT8BP2
CML22 3 5     N-Acetyltransferase Camello 22
Camello-Like Protein 22 3     Probable N-Acetyltransferase 8B2
N-Acetyltransferase 8B (Gene/Pseudogene)1     EC 2.3.1.-3
Hcml22     EC 2.3.18

External Ids:    HGNC: 302351   Entrez Gene: 514712   OMIM: 6081905   UniProtKB: Q9UHF33   

Export aliases for NAT8B gene to outside databases

Previous GC identifers: GC02M073782 GC02M073662


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (GCN5-related, putative, gene/pseudogene)) is a protein-coding gene. GO annotations related to this gene include N-acetyltransferase activity.

UniProtKB/Swiss-Prot: NAT8B_HUMAN, Q9UHF3
Function: May play a role in regulation of gastrulation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the NAT8B gene promoter:
         AML1a   GATA-3   LUN-1   NF-AT   GATA-1   GATA-2   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NAT8B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.1   HGNC cytogenetic band: 2p13.2

NAT8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAT8B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M073928:  view genomic region     (about GC identifiers)

Start:
73,927,636 bp from pter      End:
73,928,467 bp from pter
Size:
832 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NAT8B_HUMAN, Q9UHF3 (See protein sequence)
Recommended Name: Probable N-acetyltransferase 8B  
Size: 227 amino acids; 25366 Da
Secondary accessions: Q0VAD9 Q6NT18

Explore the universe of human proteins at neXtProt for NAT8B: NX_Q9UHF3

2 DME Specific Peptides for NAT8B (Q9UHF3)
 DITKSYL  VLQFARDQGY 

REFSEQ proteins: NP_057431.2  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR000182 GNAT_dom
 IPR016181 Acyl_CoA_acyltransferase

Graphical View of Domain Structure for InterPro Entry Q9UHF3

ProtoNet protein and cluster: Q9UHF3

1 Blocks protein domain: IPB000182 GCN5-related N-acetyltransferase

UniProtKB/Swiss-Prot: NAT8B_HUMAN, Q9UHF3
Similarity: Belongs to the camello family
Similarity: Contains 1 N-acetyltransferase domain


Find genes that share domains with NAT8B           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NAT8B_HUMAN, Q9UHF3
Function: May play a role in regulation of gastrulation

     Enzyme Numbers (IUBMB): EC 2.3.12 EC 2.3.1.-1

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008080N-acetyltransferase activity NAS11397015
     
Find genes that share ontologies with NAT8B           About GenesLikeMe


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NAT8B_HUMAN, Q9UHF3: Membrane; Single-pass membrane protein (Potential)

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane NAS11397015

Find genes that share ontologies with NAT8B           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for NAT8B About    
See pathways by source

SuperPathContained pathways About
1Biological oxidations
metapathway biotransformation0.42


1 BioSystems Pathway for NAT8B
    metapathway biotransformation


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Interactions:

    Search GeneGlobe Interaction Network for NAT8B

4 Interacting proteins for NAT8B (Q9UHF33) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TGFBR1P368973I2D: score=2 
NKD1Q969G93I2D: score=1 
SMAD4Q134853I2D: score=1 
TOP1P113873I2D: score=1 
About this table

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001702gastrulation with mouth forming second NAS11397015
GO:0008152metabolic process NAS11397015

Find genes that share ontologies with NAT8B           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NAT8B



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for NAT8B gene: 
NM_016347.2  

Unigene Cluster for NAT8B:

N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)
Hs.278983  [show with all ESTs]
Unigene Representative Sequence: NM_016347
miRNA
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Additional mRNA sequence: 

AF185571.1 BC069564.1 BC121101.1 BC121102.1 

1 DOTS entry:

DT.313705 

7 AceView cDNA sequences:

BC069564 AF185571 NM_016347 BM924416 BQ644205 BF509569 BG434004 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NAT8B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGCCTCTACC
NAT8B Expression
About this image

NAT8B Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.278983
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for NAT8B gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cml11 camello-like 1 71.62(n)
59.46(a)
  66116  NM_023160.2  NP_075649.2 
chicken
(Gallus gallus)
Aves NAT8B1 N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) 54.55(n)
42.73(a)
  776932  NM_001271144.1  NP_001258073.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004893581 probable N-acetyltransferase 8B-like 50.39(n)
42.25(a)
  100489358  XM_004911488.1  XP_004911545.1 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NAT8B gene
2 SIMAP similar genes for NAT8B using alignment to 1 protein entry:     NAT8B_HUMAN:
NAT8    NAT8L

Find genes that share paralogs with NAT8B           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot
NAT8B_HUMAN, Q9UHF3: A nonsense mutation transforms Ser-16 into a stop codon, giving rise to a truncated non-functional
protein. A second nonsense mutation transforms Gln-168 into a stop codon, probably also producing a
non-functional protein as the N-acetyltransferase domain is disrupted


Selected SNPs for NAT8B (see all 126)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs621525961,2
C,F--73927140(+) TAGAGG/TGGATT 1 -- int13Minor allele frequency- T:0.40WA CSA 5
rs621525971,2
C,F--73927147(+) GATTGA/GTTGTG 1 -- int13Minor allele frequency- G:0.40WA CSA 5
rs1844903661,2
--73927230(+) CATTAC/TAGAGG 1 -- int10--------
rs1435801411,2
--73927247(+) CCTCTC/GTCCTT 1 -- int10--------
rs1440301481,2
--73927269(+) AGATGC/TGACGC 1 -- int10--------
rs1486734681,2
--73927270(+) GATGCC/GACGCA 1 -- int10--------
rs1153939231,2
F--73927294(+) AAACAC/TGTTTG 1 -- int11Minor allele frequency- T:0.01WA 118
rs1160674771,2
F--73927295(+) AACACG/ATTTGT 1 -- int11Minor allele frequency- A:0.02WA 118
rs1890231881,2
--73927321(+) TTTTTG/TCTCCT 1 -- int10--------
rs1428599721,2
--73927347(+) AACCAG/TGCCTG 1 -- int10--------

HapMap Linkage Disequilibrium report for NAT8B (73927636 - 73928467 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for NAT8B:    About this table    
Variant IDTypeSubtypePubMed ID
esv34157CNV Loss18971310
dgv4163n71CNV Loss21882294
nsv874276CNV Loss21882294
nsv834260CNV Gain17160897
dgv4164n71CNV Gain21882294
nsv829461CNV Gain20364138
essv105CNV CNV17122850
nsv441760CNV CNV18776908
dgv1197e1CNV Complex17122850

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for NAT8B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 608190    OMIM disorders: --


Find genes that share disorders with NAT8B           About GenesLikeMe


Export disorders for NAT8B gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for NAT8B gene integrated from 10 sources:
(articles sorted by number of sources associating them with NAT8B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Human-specific nonsense mutations identified by genome sequence comparisons. (PubMed id 16395595)1, 2, 3 Hahn Y. and Lee B. (Hum. Genet. 2006)
  2. Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis. (PubMed id 11397015)1, 2, 3 Popsueva A.E....Belyavsky A.V. (Dev. Biol. 2001)
  3. Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels. (PubMed id 19011241)1, 3 Ko M.H. and Puglielli L. (J. Biol. Chem. 2009)
  4. Biochemical inhibition of the acetyltransferases ATase1 and ATase2 reduces I^-secretase (BACE1) levels and AI^ generation. (PubMed id 22267734)1 Ding Y....Puglielli L. (J. Biol. Chem. 2012)
  5. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
  6. Genetic loci influencing kidney function and chronic kidney disease. (PubMed id 20383145)1 Chambers J.C....Kooner J.S. (Nat. Genet. 2010)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 51471 HGNC: 30235 AceView: CML2 euGenes: HUgn51471 ECgene: NAT8B
H-InvDB: NAT8B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for NAT8B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NAT8B gene:
Search GeneIP for patents involving NAT8B

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Custom PCR Arrays for NAT8B Search Chromatin IP Primers for NAT8B
 Pre-validated RT2 qPCR Primer Assay in human, mouse / rat NAT8B  Search GeneGlobe Interaction Network for NAT8B
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 GenScript Custom Purified and Recombinant Proteins Services for NAT8B GenScript cDNA clones with any tag delivered in your preferred vector for NAT8B
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 Search Tocris compounds for NAT8B
 Browse Sino Biological Proteins
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 Search for Antibodies for NAT8B at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for NAT8B
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 Browse ESI BIO Cell Lines and PureStem Progenitors for NAT8B
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for NAT8B
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 Search ThermoFisher Antibodies for NAT8B
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAT8B
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NAT8B
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NAT8B
 LSBio Antibodies in human, mouse, rat for NAT8B
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 Browse compounds at ApexBio
 Search Addgene for plasmids for NAT8B
  Search eBioscience for proteins for NAT8B
  Search eBioscience for elisas for NAT8B
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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