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NAT8B Gene

protein-coding GIFtS: 40

GC02M073782

N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)
(Previous name: N-acetyltransferase 8B (gene/pseudogene) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CML2 ^², ³
EC 2.3.1.- ^³
Hcml2 ^¹, ²
MGC97061 ^²
NAT8BP ^¹, ²

Descriptions
Camello-like protein 2 ^³
N-acetyltransferase 8B ^²
N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) ^²
N-acetyltransferase 8B (gene/pseudogene) ^¹, ²
N-acetyltransferase Camello 2 ^²

External Ids
HGNC: 30235¹
Entrez Gene: 51471²
UniProtKB: Q9UHF3³
Ensembl: ENSG00000144035⁷

Search outside databases for aliases for NAT8B gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for NAT8B:

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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.2 Ensembl cytogenetic band: 2p13.2 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)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M073782: (about GC identifiers)

Start:	73,781,144 bp from pter
End:	73,781,975 bp from pter
Size:	832 bases
Orientation:	minus strand

1 alternative location:

Chr2- 73,721,358-73,723,045

RefSeq DNA sequence:

NC_000002.10 NT_022184.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: NAT8B_HUMAN, Q9UHF3 (See protein sequence)

Recommended Name: Probable N-acetyltransferase 8B

Size: 227 amino acids; 25366 Da

Subcellular location: Membrane; Single-pass membrane protein (Potential)

Secondary accessions: Q0VAD9 Q6NT18

REFSEQ proteins: NP_057431.2

ENSEMBL proteins:

ENSP00000272425

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Human Recombinant Proteins from Abnova (NAT8B)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	NAS	11397015

About this table

Antibodies for NAT8B:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for NAT8B

Assays for NAT8B:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q9UHF3

ProtoNet protein and cluster: Q9UHF3

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

UniProtKB/Swiss-Prot: NAT8B_HUMAN, Q9UHF3

Similarity: Belongs to the camello family

Similarity: Contains 1 N-acetyltransferase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NAT8B)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016347

Applied Biosystems Silencer® siRNAs for NAT8B

Sigma-Aldrich siRNA for NAT8B

Sigma-Aldrich shRNA for NAT8B

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_016347
Myc/DDK tagged cDNA clone in CMV expression vector: NM_016347
untagged cDNA clone in CMV expression vector: NM_016347

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_016347

UniProtKB/Swiss-Prot: NAT8B_HUMAN, Q9UHF3

Function: May play a role in regulation of gastrulation

Enzyme Number (IUBMB): EC 2.3.1.-

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008080	N-acetyltransferase activity	NAS	11397015
GO:0008415	acyltransferase activity	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001702	gastrulation with mouth forming second	NAS	11397015
GO:0007275	multicellular organismal development	IEA	--
GO:0008152	metabolic process	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for NAT8B

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (NAT8B)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016347

Sigma-Aldrich siRNA for NAT8B

Sigma-Aldrich shRNA for NAT8B

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_016347

REFSEQ mRNAs for NAT8B gene:

NM_016347.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_016347

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_016347
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016347
                                 untagged cDNA clone in CMV expression vector: NM_016347

Additional cDNA sequence:

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

1 DOTS entry:

DT.313705

7 AceView cDNA sequences:

BC069564 NM_016347 AF185571 BM924416 BQ644205 BF509569 BG434004

highest scoring ESTs for NAT8B:

BC069564 BF435095 BC121101 BC121102 AA577579 AF185571 AA862557 AA972002 NM_016347 AW083995

Unigene Cluster for NAT8B:

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

Hs.719469 [show with all ESTs]

Unigene Representative Sequence: NM_016347

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000272425

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

NAT8B expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for NAT8B

¹ / ² / ³

5 probe-sets matching NAT8B gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
65189_at²^{, 3}	U95-C	2	1.00	0.78	1.00	1.00	AA577579	0.60	0.50	0.55	1
206964_at²^{, 3}	U133-A	3	1.00	0.71	--	--	NM_016347	0.40	0.50	0.45	1
206963_s_at²^{, 3}	U133-A	3	1.00	0.39	--	--	NM_016347	0.40	0.50	0.45	1
206964_at²	U133Plus2	3	1.00	0.71	--	--	--	--	--	--	--
206963_s_at²	U133Plus2	3	1.00	0.39	--	--	--	--	--	--	--

GeneDecks NAT8B for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.719469

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for NAT8B gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	NAT8B¹	--	N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)	73.75(n) 61.95(a)	483111 XM_540227.2 XP_540227.2
chimpanzee (Pan troglodytes)	NAT8B¹	--	N-acetyltransferase 8B	98.53(n) 97.36(a)	739241 XM_001151228.1 XP_001151228.1
rat (Rattus norvegicus)	Nat8b¹	--	N-acetyltransferase 8B	71.32(n) 62.61(a)	171084 NM_133558.1 NP_598242.1
chicken (Gallus gallus)	NAT8B¹	--	N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)	57.31(n) 42.98(a)	776932 XM_001236423.1 XP_001236424.1
zebrafish (Danio rerio)	LOC100002956¹	--	similar to Probable N-acetyltransferase CML5 (Camello-like more	49.21(n) 39.27(a)	100002956 XM_001342578.2 XP_001342614.1

About this table Species with no ortholog for NAT8B

ENSEMBL Gene Tree for NAT8B

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for NAT8B gene

ENSG00000204872² NAT8L²

Pseudogenes

1 related pseudogene

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: NAT8B_HUMAN, Q9UHF3

Polymorphism: 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

10/29 NCBI SNPs in NAT8B are shown (see all 29 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 21)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs2001490^1,2	A,C,F,H,O	73781606(+)	`ATTCAG/CCCACC`	1	A/G	mis¹		9		MN EU EA WA	1020
--	rs4852974^1,2	A,C,F,H	73781439(+)	`GCCCTG/AGTCCC`	1	X/Q	non¹		4		EU EA WA	414
--	rs2947845^1,2	C,F,H,O	73783864(-)	`CACCAT/CACCAT`	1	--	ng3¹		4		EU EA WA	418
--	rs2001436^1,2	A,C,F,H	73782473(-)	`CTTGGA/TCACAG`	1	--	ng3¹		5		MN EU EA WA	594
--	rs4530394^1,2	A,C	73783158(+)	`AGTTCC/TTTGCA`	1	--	ng3¹		0	--	--	--	--
--	rs2947847^1,2	A	73783373(-)	`GCCTCC/TCCAAC`	1	--	ng3¹		0	--	--	--	--
--	rs2012574^1,2	F	73781874(+)	`CCCCCC/GGGAGA`	1	R/G	mis¹		1		MN	184
--	rs1879660^1,2	C,H	73781272(-)	`GCTCAG/AGCAGG`	1	Q/Q	syn¹		5		MN EU EA WA	604
--	rs3980680^1,2	--	73783552(+)	`CTAGA-/GAGTGAG`	1	--	ng3¹		0	--	--	--	--
--	rs72915451^1,2	--	73780936(+)	`ATGCAA/GTCTGA`	1	--	ng5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for NAT8B (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 608190

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

4 PubMed articles for NAT8B gene:

Human-specific nonsense mutations identified by genome sequence comparisons. (PubMed id 16395595)^{2, 3, 4} Hahn Y. and Lee B. (2006)
Overexpression of camello, a member of a novel protein family, reduces blastomere adhesion and inhibits gastrulation in Xenopus laevis. (PubMed id 11397015)^{2, 3, 4} Popsueva A.E....Belyavsky A.V. (2001)
Two endoplasmic reticulum (ER)/ER Golgi intermediate compartment-based lysine acetyltransferases post-translationally regulate BACE1 levels. (PubMed id 19011241)³ Ko M.H. and Puglielli L. (2009)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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, and/or H-InvDB)
About This Section

Entrez Gene: 51471	HGNC: 30235	AceView: CML2	Ensembl:ENSG00000144035	euGenes: HUgn51471
ECgene: NAT8B	H-InvDB: NAT8B

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for NAT8B
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for NAT8B:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for NAT8B-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for NAT8B		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for NAT8B		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (NAT8B)
	Search for Antibodies
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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Search Tocris compounds for NAT8B

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for NAT8B

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NAT8B Gene

protein-coding GIFtS: 40

Aliases &
Descriptions
for NAT8B

Summaries
for NAT8B

Genomic Location
for NAT8B

Proteins
for NAT8B

Protein Domains/
Families
for NAT8B

Gene Function
for NAT8B

Pathways & Interactions
for NAT8B

Drugs & Compounds
for NAT8B

Transcripts
for NAT8B

Expression
for NAT8B

Orthologs
for NAT8B

Paralogs
for NAT8B

SNPs/Variants
for NAT8B

Disorders & Mutations
for NAT8B

Medical News
for NAT8B

Publications
for NAT8B

Search for NAT8B

Genome Databases showing NAT8B

Other Databases showing NAT8B

Specialized Databases showing NAT8B

Licensable Technologies
for NAT8B

Services
for NAT8B

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

NAT8B Gene

protein-coding GIFtS: 40

Aliases & Descriptionsfor NAT8B

Summariesfor NAT8B

Genomic Locationfor NAT8B

Proteinsfor NAT8B

Protein Domains/Familiesfor NAT8B

Gene Functionfor NAT8B

Pathways & Interactionsfor NAT8B

Drugs & Compoundsfor NAT8B

Transcriptsfor NAT8B

Expression for NAT8B

Orthologsfor NAT8B

Paralogsfor NAT8B

SNPs/Variantsfor NAT8B

Disorders & Mutationsfor NAT8B

Medical Newsfor NAT8B

Publicationsfor NAT8B

Search for NAT8B

Genome Databases showing NAT8B

Other Databases showing NAT8B

Specialized Databases showing NAT8B

Licensable Technologiesfor NAT8B

Servicesfor NAT8B

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for NAT8B

Summaries
for NAT8B

Genomic Location
for NAT8B

Proteins
for NAT8B

Protein Domains/
Families
for NAT8B

Gene Function
for NAT8B

Pathways & Interactions
for NAT8B

Drugs & Compounds
for NAT8B

Transcripts
for NAT8B

Expression
for NAT8B

Orthologs
for NAT8B

Paralogs
for NAT8B

SNPs/Variants
for NAT8B

Disorders & Mutations
for NAT8B

Medical News
for NAT8B

Publications
for NAT8B

Licensable Technologies
for NAT8B

Services
for NAT8B