NAT8B (N-acetyltransferase 8B (putative, gene/pseudogene)) - Rat Genome Database

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Gene: NAT8B (N-acetyltransferase 8B (putative, gene/pseudogene)) Homo sapiens
Analyze
Symbol: NAT8B
Name: N-acetyltransferase 8B (putative, gene/pseudogene)
RGD ID: 1605078
HGNC Page HGNC:30235
Description: Enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor. Involved in amyloid-beta metabolic process; negative regulation of apoptotic process; and positive regulation of gene expression. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane.
Type: pseudo (Ensembl: protein-coding)
RefSeq Status: VALIDATED
Previously known as: acetyltransferase 1; ATase1; camello-like protein 2; CML2; Hcml2; MGC97061; N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene); N-acetyltransferase 8B (gene/pseudogene); N-acetyltransferase Camello 2; NAT8BP; probable N-acetyltransferase 8B; putative N-acetyltransferase 8B
RGD Orthologs
Mouse
Rat
Bonobo
Alliance Genes
More Info more info ...
Related Functional Gene: NAT8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38273,700,509 - 73,702,125 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl273,700,576 - 73,701,340 (-)EnsemblGRCh38hg38GRCh38
GRCh37273,927,636 - 73,928,467 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,781,144 - 73,781,975 (-)NCBINCBI36Build 36hg18NCBI36
Celera273,778,479 - 73,779,310 (-)NCBICelera
Cytogenetic Map2p13.1NCBI
HuRef273,662,585 - 73,663,416 (-)NCBIHuRef
CHM1_1273,858,379 - 73,859,210 (-)NCBICHM1_1
T2T-CHM13v2.0273,713,618 - 73,715,234 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11397015   PMID:12477932   PMID:16395595   PMID:19011241   PMID:20383145   PMID:20383146   PMID:21873635   PMID:22267734   PMID:24556617   PMID:25301944   PMID:26354767   PMID:33961781  


Genomics

Comparative Map Data
NAT8B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38273,700,509 - 73,702,125 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl273,700,576 - 73,701,340 (-)EnsemblGRCh38hg38GRCh38
GRCh37273,927,636 - 73,928,467 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36273,781,144 - 73,781,975 (-)NCBINCBI36Build 36hg18NCBI36
Celera273,778,479 - 73,779,310 (-)NCBICelera
Cytogenetic Map2p13.1NCBI
HuRef273,662,585 - 73,663,416 (-)NCBIHuRef
CHM1_1273,858,379 - 73,859,210 (-)NCBICHM1_1
T2T-CHM13v2.0273,713,618 - 73,715,234 (-)NCBIT2T-CHM13v2.0
Nat8b-ps
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39685,909,539 - 85,910,364 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl685,909,663 - 85,910,361 (-)EnsemblGRCm39 Ensembl
GRCm38685,932,557 - 85,933,382 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl685,932,681 - 85,933,379 (-)EnsemblGRCm38mm10GRCm38
MGSCv37685,882,551 - 85,883,376 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36685,898,191 - 85,898,983 (-)NCBIMGSCv36mm8
Celera687,866,917 - 87,867,737 (-)NCBICelera
Cytogenetic Map6C3NCBI
cM Map637.54NCBI
Nat8b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84119,916,909 - 119,923,544 (-)NCBIGRCr8
mRatBN7.24118,359,445 - 118,364,351 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4118,359,443 - 118,363,563 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4123,833,421 - 123,834,828 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04119,608,165 - 119,609,572 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04118,227,858 - 118,229,265 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04117,606,022 - 117,607,366 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4117,606,022 - 117,607,428 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl4117,789,006 - 117,790,350 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04182,361,531 - 182,362,875 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44120,082,555 - 120,083,899 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14120,327,035 - 120,328,380 (-)NCBI
Celera4107,332,809 - 107,334,153 (-)NCBICelera
Cytogenetic Map4q34NCBI
LOC100971190
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21252,670,365 - 52,671,989 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A52,672,180 - 52,674,741 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A73,761,907 - 73,763,964 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A75,297,416 - 75,298,963 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A75,297,531 - 75,298,213 (-)Ensemblpanpan1.1panPan2

Variants

.
Variants in NAT8B
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016347.2(NAT8B):c.640C>T (p.His214Tyr) single nucleotide variant Malignant melanoma [RCV000065674] Chr2:73700666 [GRCh38]
Chr2:73927793 [GRCh37]
Chr2:73781301 [NCBI36]
Chr2:2p13.1		 not provided
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2		 pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2		 uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
NR_132338.2(NAT8B):n.464T>C single nucleotide variant Inborn genetic diseases [RCV003245067] Chr2:73701049 [GRCh38]
Chr2:73928176 [GRCh37]
Chr2:2p13.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941)x1 copy number loss See cases [RCV000448067] Chr2:73477212..74065941 [GRCh37]
Chr2:2p13.2-13.1		 uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NR_132338.2(NAT8B):n.487A>G single nucleotide variant Inborn genetic diseases [RCV003253418] Chr2:73701026 [GRCh38]
Chr2:73928153 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.451T>C single nucleotide variant Inborn genetic diseases [RCV003261805] Chr2:73701062 [GRCh38]
Chr2:73928189 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.275G>A single nucleotide variant Inborn genetic diseases [RCV003287547] Chr2:73701238 [GRCh38]
Chr2:73928365 [GRCh37]
Chr2:2p13.1		 likely benign
NR_132338.2(NAT8B):n.835C>T single nucleotide variant Inborn genetic diseases [RCV003291561] Chr2:73700678 [GRCh38]
Chr2:73927805 [GRCh37]
Chr2:2p13.1		 uncertain significance
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2		 pathogenic
GRCh37/hg19 2p13.1(chr2:73875920-73928098)x1 copy number loss not provided [RCV000753015] Chr2:73875920..73928098 [GRCh37]
Chr2:2p13.1		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NC_000002.11:g.(?_71004499)_(74779761_?)del deletion Dystonic disorder [RCV003113211]|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]|not provided [RCV003107716] Chr2:71004499..74779761 [GRCh37]
Chr2:2p13.3-13.1		 pathogenic|no classifications from unflagged records
NR_132338.2(NAT8B):n.521G>T single nucleotide variant Inborn genetic diseases [RCV003242144] Chr2:73700992 [GRCh38]
Chr2:73928119 [GRCh37]
Chr2:2p13.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p13.2-13.1(chr2:73477212-74065941) copy number loss not specified [RCV002053150] Chr2:73477212..74065941 [GRCh37]
Chr2:2p13.2-13.1		 uncertain significance
NC_000002.11:g.(?_72359356)_(74779761_?)del deletion MOGS-congenital disorder of glycosylation [RCV003109485]|not provided [RCV003116543] Chr2:72359356..74779761 [GRCh37]
Chr2:2p13.2-13.1		 pathogenic|no classifications from unflagged records
NC_000002.11:g.(?_69240632)_(74779761_?)dup duplication not provided [RCV003122858] Chr2:69240632..74779761 [GRCh37]
Chr2:2p13.3-13.1		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NR_132338.2(NAT8B):n.421C>G single nucleotide variant Inborn genetic diseases [RCV003280684] Chr2:73701092 [GRCh38]
Chr2:73928219 [GRCh37]
Chr2:2p13.1		 likely benign
NR_132338.2(NAT8B):n.764G>C single nucleotide variant Inborn genetic diseases [RCV002907337] Chr2:73700749 [GRCh38]
Chr2:73927876 [GRCh37]
Chr2:2p13.1		 likely benign
NR_132338.2(NAT8B):n.352G>T single nucleotide variant Inborn genetic diseases [RCV002946541] Chr2:73701161 [GRCh38]
Chr2:73928288 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.218A>G single nucleotide variant Inborn genetic diseases [RCV002784124] Chr2:73701295 [GRCh38]
Chr2:73928422 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.548C>A single nucleotide variant Inborn genetic diseases [RCV002822409] Chr2:73700965 [GRCh38]
Chr2:73928092 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.883C>A single nucleotide variant Inborn genetic diseases [RCV002743876] Chr2:73700630 [GRCh38]
Chr2:73927757 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.874C>G single nucleotide variant Inborn genetic diseases [RCV002744712] Chr2:73700639 [GRCh38]
Chr2:73927766 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.259G>A single nucleotide variant Inborn genetic diseases [RCV002648388] Chr2:73701254 [GRCh38]
Chr2:73928381 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.398T>C single nucleotide variant Inborn genetic diseases [RCV002855652] Chr2:73701115 [GRCh38]
Chr2:73928242 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.836T>G single nucleotide variant Inborn genetic diseases [RCV002714187] Chr2:73700677 [GRCh38]
Chr2:73927804 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.307C>T single nucleotide variant Inborn genetic diseases [RCV002989372] Chr2:73701206 [GRCh38]
Chr2:73928333 [GRCh37]
Chr2:2p13.1		 likely benign
NR_132338.2(NAT8B):n.479G>A single nucleotide variant Inborn genetic diseases [RCV002675143] Chr2:73701034 [GRCh38]
Chr2:73928161 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.218A>T single nucleotide variant Inborn genetic diseases [RCV002656663] Chr2:73701295 [GRCh38]
Chr2:73928422 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.651C>G single nucleotide variant Inborn genetic diseases [RCV002652466] Chr2:73700862 [GRCh38]
Chr2:73927989 [GRCh37]
Chr2:2p13.1		 uncertain significance
GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1 copy number loss not provided [RCV003223078] Chr2:73716761..75347894 [GRCh37]
Chr2:2p13.1-12		 uncertain significance
NR_132338.2(NAT8B):n.658C>A single nucleotide variant Inborn genetic diseases [RCV003185502] Chr2:73700855 [GRCh38]
Chr2:73927982 [GRCh37]
Chr2:2p13.1		 uncertain significance
NR_132338.2(NAT8B):n.311G>A single nucleotide variant Inborn genetic diseases [RCV003175158] Chr2:73701202 [GRCh38]
Chr2:73928329 [GRCh37]
Chr2:2p13.1		 likely benign
NR_132338.2(NAT8B):n.470T>C single nucleotide variant Inborn genetic diseases [RCV003356733] Chr2:73701043 [GRCh38]
Chr2:73928170 [GRCh37]
Chr2:2p13.1		 likely benign
GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1 copy number loss not specified [RCV003986388] Chr2:71076472..76368354 [GRCh37]
Chr2:2p13.3-12		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:111
Count of miRNA genes:94
Interacting mature miRNAs:95
Transcripts:ENST00000377712
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
UniSTS:480559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37273,927,699 - 73,928,467UniSTSGRCh37
Celera273,778,542 - 73,779,310UniSTS
HuRef273,662,648 - 73,663,416UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 83 5 36 36 67 36 165 8 1
Low 715 806 493 308 1012 285 270 31 313 140 777 444 24 73 235 1
Below cutoff 1096 1597 926 233 283 115 2271 1190 2196 66 522 753 118 833 1470

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000377712   ⟹   ENSP00000485054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl273,700,576 - 73,701,340 (-)Ensembl
RefSeq Acc Id: NR_132338
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38273,700,509 - 73,702,125 (-)NCBI
CHM1_1273,858,379 - 73,859,210 (-)NCBI
T2T-CHM13v2.0273,713,618 - 73,715,234 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein AAF22299 (Get FASTA)   NCBI Sequence Viewer  
  EAW99724 (Get FASTA)   NCBI Sequence Viewer  
  Q9UHF3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: ENSP00000485054   ⟸   ENST00000377712
Protein Domains
N-acetyltransferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHF3-F1-model_v2 AlphaFold Q9UHF3 1-227 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30235 AgrOrtholog
COSMIC NAT8B COSMIC
Ensembl Genes ENSG00000204872 Ensembl
Gene3D-CATH 3.40.630.30 UniProtKB/Swiss-Prot
GTEx ENSG00000204872 GTEx
HGNC ID HGNC:30235 ENTREZGENE
Human Proteome Map NAT8B Human Proteome Map
InterPro Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot
  GNAT_dom UniProtKB/Swiss-Prot
NCBI Gene 51471 ENTREZGENE
OMIM 608190 OMIM
PANTHER GNAT FAMILY N-ACETYLTRANSFERASE UniProtKB/Swiss-Prot
  N-ACETYLTRANSFERASE 8-RELATED UniProtKB/Swiss-Prot
Pfam Acetyltransf_1 UniProtKB/Swiss-Prot
PharmGKB PA162396978 PharmGKB
PROSITE GNAT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55729 UniProtKB/Swiss-Prot
UniProt NAT8B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q0VAD9 UniProtKB/Swiss-Prot
  Q6NT18 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 NAT8B  N-acetyltransferase 8B (putative, gene/pseudogene)  NAT8B  N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene)  Symbol and/or name change 5135510 APPROVED