Human Gene NAT8 (ENST00000272425.4_7) from GENCODE V47lift37
  Description: N-acetyltransferase 8 (putative) (from RefSeq NM_003960.4)
Gencode Transcript: ENST00000272425.4_7
Gencode Gene: ENSG00000144035.4_9
Transcript (Including UTRs)
   Position: hg19 chr2:73,867,850-73,869,549 Size: 1,700 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr2:73,868,072-73,868,755 Size: 684 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:73,867,850-73,869,549)mRNA (may differ from genome)Protein (227 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NAT8_HUMAN
DESCRIPTION: RecName: Full=Probable N-acetyltransferase 8; EC=2.3.1.-; AltName: Full=Camello-like protein 1;
FUNCTION: Plays a role in regulation of gastrulation.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Expression is restricted to liver and kidney.
SIMILARITY: Belongs to the camello family.
SIMILARITY: Contains 1 N-acetyltransferase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 116.62 RPKM in Kidney - Cortex
Total median expression: 144.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.30179-0.370 Picture PostScript Text
3' UTR -47.70222-0.215 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016181 - Acyl_CoA_acyltransferase
IPR000182 - GNAT_dom

Pfam Domains:
PF00583 - Acetyltransferase (GNAT) family
PF08445 - FR47-like protein
PF13302 - Acetyltransferase (GNAT) domain
PF13420 - Acetyltransferase (GNAT) domain
PF13508 - Acetyltransferase (GNAT) domain
PF13527 - Acetyltransferase (GNAT) domain
PF13673 - Acetyltransferase (GNAT) domain
PF14542 - GCN5-related N-acetyl-transferase

SCOP Domains:
55729 - Acyl-CoA N-acyltransferases (Nat)

ModBase Predicted Comparative 3D Structure on Q9UHE5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004468 lysine N-acetyltransferase activity, acting on acetyl phosphate as donor
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0047198 cysteine-S-conjugate N-acetyltransferase activity

Biological Process:
GO:0006749 glutathione metabolic process
GO:0010628 positive regulation of gene expression
GO:0018003 peptidyl-lysine N6-acetylation
GO:0042493 response to drug
GO:0043066 negative regulation of apoptotic process
GO:0044267 cellular protein metabolic process
GO:0050435 beta-amyloid metabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane


-  Descriptions from all associated GenBank mRNAs
  BC012626 - Homo sapiens N-acetyltransferase 8 (GCN5-related, putative), mRNA (cDNA clone MGC:13677 IMAGE:4045439), complete cds.
AF187813 - Homo sapiens putative N-acetyltransferase CML1 (CML1) mRNA, complete cds.
AB013094 - Homo sapiens TSC501 mRNA, complete cds.
JD323659 - Sequence 304683 from Patent EP1572962.
AB019551 - Homo sapiens GLA mRNA, complete cds.
JF432583 - Synthetic construct Homo sapiens clone IMAGE:100073820 N-acetyltransferase 8 (GCN5-related, putative) (NAT8) gene, encodes complete protein.
KJ897947 - Synthetic construct Homo sapiens clone ccsbBroadEn_07341 NAT8 gene, encodes complete protein.
CR407610 - Homo sapiens full open reading frame cDNA clone RZPDo834A092D for gene NAT8, N-acetyltransferase 8 (camello like) complete cds, without stopcodon.
JD265514 - Sequence 246538 from Patent EP1572962.
JD066882 - Sequence 47906 from Patent EP1572962.
JD416775 - Sequence 397799 from Patent EP1572962.
JD382320 - Sequence 363344 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-4061 - glutathione-mediated detoxification I
PWY-7112 - 4-hydroxy-2-nonenal detoxification

Reactome (by CSHL, EBI, and GO)

Protein Q9UHE5 (Reactome details) participates in the following event(s):

R-HSA-5693001 NAT8,8B acetylate BACE1
R-HSA-977225 Amyloid fiber formation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: CML1 , ENST00000272425.1, ENST00000272425.2, ENST00000272425.3, GLA , NAT8 , NAT8_HUMAN, NM_003960, O75839, Q6LEU4, Q96QI8, Q9UHE5, Q9UQ17, TSC501 , uc317iyv.1, uc317iyv.2
UCSC ID: ENST00000272425.4_7
RefSeq Accession: NM_003960.4
Protein: Q9UHE5 (aka NAT8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.