NAA50 (N-alpha-acetyltransferase 50, NatE catalytic subunit) - Rat Genome Database

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Gene: NAA50 (N-alpha-acetyltransferase 50, NatE catalytic subunit) Homo sapiens
Analyze
Symbol: NAA50
Name: N-alpha-acetyltransferase 50, NatE catalytic subunit
RGD ID: 1322131
HGNC Page HGNC
Description: Enables H4 histone acetyltransferase activity; peptide alpha-N-acetyltransferase activity; and peptidyl-lysine acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleus. Part of NatA complex; INTERACTS WITH (-)-demecolcine; acrolein; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ13194; hNaa50p; hNAT5; hSAN; MAK3; Mak3 homolog; mak3 homolog (s. cerevisiae); N(alpha)-acetyltransferase 50, NatE catalytic subunit; N-acetyltransferase 13; N-acetyltransferase 13 (GCN5-related); N-acetyltransferase 5; N-acetyltransferase san homolog; N-alpha-acetyltransferase 50; N-epsilon-acetyltransferase 50; NAT13; NAT13P; NAT5; NAT5P; natE catalytic subunit; SAN; separation anxiety
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NAA50P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3113,716,458 - 113,746,300 (-)EnsemblGRCh38hg38GRCh38
GRCh383113,716,458 - 113,746,249 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373113,435,305 - 113,465,096 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363114,920,531 - 114,947,786 (-)NCBINCBI36hg18NCBI36
Build 343114,920,530 - 114,947,786NCBI
Celera3111,846,332 - 111,873,586 (-)NCBI
Cytogenetic Map3q13.31NCBI
HuRef3110,810,207 - 110,840,018 (-)NCBIHuRef
CHM1_13113,398,653 - 113,428,466 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA)
cytosol  (IDA)
extracellular exosome  (HDA)
NatA complex  (IBA,IDA)
nucleus  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:14702039   PMID:16341674   PMID:16344560   PMID:16507339   PMID:17502424   PMID:19056867   PMID:19398576   PMID:19480662   PMID:19660095   PMID:19744929   PMID:20360068   PMID:21873635  
PMID:21900231   PMID:22311970   PMID:23376485   PMID:23535732   PMID:23557624   PMID:25416956   PMID:25489052   PMID:25732826   PMID:25886145   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26687479   PMID:26760575   PMID:27422821   PMID:27484799   PMID:27880917   PMID:28514442   PMID:29128334   PMID:29467282   PMID:29564676   PMID:29568061   PMID:30033366   PMID:30561431  
PMID:31950832   PMID:32129710   PMID:32176739   PMID:32296183   PMID:32877691   PMID:33277362   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
NAA50
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3113,716,458 - 113,746,300 (-)EnsemblGRCh38hg38GRCh38
GRCh383113,716,458 - 113,746,249 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373113,435,305 - 113,465,096 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363114,920,531 - 114,947,786 (-)NCBINCBI36hg18NCBI36
Build 343114,920,530 - 114,947,786NCBI
Celera3111,846,332 - 111,873,586 (-)NCBI
Cytogenetic Map3q13.31NCBI
HuRef3110,810,207 - 110,840,018 (-)NCBIHuRef
CHM1_13113,398,653 - 113,428,466 (-)NCBICHM1_1
Naa50
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391643,960,154 - 43,983,825 (+)NCBIGRCm39mm39
GRCm39 Ensembl1643,960,193 - 43,983,729 (+)Ensembl
GRCm381644,139,791 - 44,163,462 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1644,139,830 - 44,163,366 (+)EnsemblGRCm38mm10GRCm38
MGSCv371644,139,922 - 44,163,477 (+)NCBIGRCm37mm9NCBIm37
MGSCv361644,059,141 - 44,082,696 (+)NCBImm8
Celera1644,497,008 - 44,520,827 (+)NCBICelera
Cytogenetic Map16B4NCBI
Naa50
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21156,538,366 - 56,560,842 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1156,538,366 - 56,560,842 (-)Ensembl
Rnor_6.01161,508,162 - 61,530,830 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1161,462,994 - 61,530,837 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1161,466,962 - 61,470,348 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01165,614,950 - 65,637,732 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41158,103,982 - 58,126,566 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11158,165,242 - 58,184,158 (-)NCBI
Celera1156,091,522 - 56,113,995 (-)NCBICelera
Cytogenetic Map11q21NCBI
Naa50
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542713,845,806 - 13,868,323 (-)NCBIChiLan1.0ChiLan1.0
NAA50
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13117,781,455 - 117,808,913 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3117,781,455 - 117,808,913 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03110,860,595 - 110,888,033 (-)NCBIMhudiblu_PPA_v0panPan3
NAA50
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha3318,111,480 - 18,139,497 (-)NCBI
ROS_Cfam_1.03318,253,597 - 18,281,699 (-)NCBI
UMICH_Zoey_3.13318,057,364 - 18,085,408 (-)NCBI
UNSW_CanFamBas_1.03318,104,745 - 18,132,483 (-)NCBI
UU_Cfam_GSD_1.03318,655,841 - 18,683,924 (-)NCBI
Naa50
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602136,264,699 - 136,285,768 (+)NCBI
SpeTri2.0NW_0049365361,221,080 - 1,257,196 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAA50
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13146,193,218 - 146,222,133 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113146,193,186 - 146,217,739 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213155,778,467 - 155,802,802 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NAA50
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12267,113,126 - 67,142,391 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2267,113,123 - 67,139,627 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604199,328,044 - 99,356,888 (-)NCBIVero_WHO_p1.0
Naa50
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473134,781,120 - 34,808,863 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D3S2891E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,435,339 - 113,435,502UniSTSGRCh37
Build 363114,918,029 - 114,918,192RGDNCBI36
Celera3111,843,830 - 111,843,993RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,810,239 - 110,810,402UniSTS
TNG Radiation Hybrid Map312576.0UniSTS
GeneMap99-GB4 RH Map3410.87UniSTS
NCBI RH Map3927.8UniSTS
RH67016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,437,915 - 113,438,066UniSTSGRCh37
Build 363114,920,605 - 114,920,756RGDNCBI36
Celera3111,846,406 - 111,846,557RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,812,815 - 110,812,966UniSTS
RH102322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,438,882 - 113,439,006UniSTSGRCh37
Build 363114,921,572 - 114,921,696RGDNCBI36
Celera3111,847,373 - 111,847,497RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,813,782 - 110,813,906UniSTS
GeneMap99-GB4 RH Map3410.56UniSTS
DXS6978E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,439,171 - 113,439,253UniSTSGRCh37
Build 363114,921,861 - 114,921,943RGDNCBI36
Celera3111,847,662 - 111,847,744RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,814,071 - 110,814,153UniSTS
STS-N20593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,439,120 - 113,439,315UniSTSGRCh37
Build 363114,921,810 - 114,922,005RGDNCBI36
Celera3111,847,611 - 111,847,806RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,814,020 - 110,814,215UniSTS
TNG Radiation Hybrid Map312580.0UniSTS
GeneMap99-GB4 RH Map3411.49UniSTS
NCBI RH Map3927.8UniSTS
D3S4251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,461,405 - 113,461,534UniSTSGRCh37
Build 363114,944,095 - 114,944,224RGDNCBI36
Celera3111,869,895 - 111,870,024RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,836,303 - 110,836,432UniSTS
WI-18032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,459,603 - 113,459,733UniSTSGRCh37
Build 363114,942,293 - 114,942,423RGDNCBI36
Celera3111,868,093 - 111,868,223RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,834,501 - 110,834,631UniSTS
TNG Radiation Hybrid Map312632.0UniSTS
GeneMap99-GB4 RH Map3410.14UniSTS
Whitehead-RH Map3505.6UniSTS
RH35991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,436,274 - 113,436,400UniSTSGRCh37
Build 363114,918,964 - 114,919,090RGDNCBI36
Celera3111,844,765 - 111,844,891RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,811,174 - 110,811,300UniSTS
GeneMap99-GB4 RH Map3410.87UniSTS
NCBI RH Map3927.8UniSTS
SHGC-77212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,437,970 - 113,438,089UniSTSGRCh37
Build 363114,920,660 - 114,920,779RGDNCBI36
Celera3111,846,461 - 111,846,580RGD
Cytogenetic Map3q13.2UniSTS
HuRef3110,812,870 - 110,812,989UniSTS
TNG Radiation Hybrid Map312580.0UniSTS
GeneMap99-GB4 RH Map3410.45UniSTS
G34955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373113,437,915 - 113,438,066UniSTSGRCh37
Celera3111,846,406 - 111,846,557UniSTS
Cytogenetic Map3q13.2UniSTS
HuRef3110,812,815 - 110,812,966UniSTS
WI-14701  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q13.2UniSTS
GeneMap99-GB4 RH Map3410.35UniSTS
Whitehead-RH Map3508.4UniSTS
NCBI RH Map3917.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3926
Count of miRNA genes:1048
Interacting mature miRNAs:1295
Transcripts:ENST00000240922, ENST00000467022, ENST00000477813, ENST00000478020, ENST00000481432, ENST00000493454, ENST00000493900, ENST00000497255, ENST00000497525
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2414 2268 1658 563 1560 404 4356 1974 2812 387 1457 1611 175 1 1202 2787 6 2
Low 25 723 68 61 391 61 1 223 922 32 3 2 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL601126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW954963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM831426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX102492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA408894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA599265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA854531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB096143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB198553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H15889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H16725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H39948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HX784836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000240922   ⟹   ENSP00000240922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,716,458 - 113,746,249 (-)Ensembl
RefSeq Acc Id: ENST00000467022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,723,519 - 113,746,249 (-)Ensembl
RefSeq Acc Id: ENST00000477813   ⟹   ENSP00000417110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,720,315 - 113,746,059 (-)Ensembl
RefSeq Acc Id: ENST00000478020   ⟹   ENSP00000419729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,723,487 - 113,746,249 (-)Ensembl
RefSeq Acc Id: ENST00000481432   ⟹   ENSP00000418323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,721,590 - 113,746,249 (-)Ensembl
RefSeq Acc Id: ENST00000493454   ⟹   ENSP00000418473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,721,457 - 113,739,587 (-)Ensembl
RefSeq Acc Id: ENST00000493900   ⟹   ENSP00000417837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,721,656 - 113,746,300 (-)Ensembl
RefSeq Acc Id: ENST00000497255   ⟹   ENSP00000418490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,721,429 - 113,746,230 (-)Ensembl
RefSeq Acc Id: ENST00000497525   ⟹   ENSP00000417488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,720,930 - 113,745,794 (-)Ensembl
RefSeq Acc Id: ENST00000616174   ⟹   ENSP00000480264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,718,994 - 113,746,194 (-)Ensembl
RefSeq Acc Id: ENST00000630058   ⟹   ENSP00000486244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3113,721,760 - 113,724,597 (-)Ensembl
RefSeq Acc Id: NM_001308445   ⟹   NP_001295374
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383113,716,458 - 113,746,249 (-)NCBI
CHM1_13113,398,653 - 113,428,492 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025146   ⟹   NP_079422
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383113,716,458 - 113,746,249 (-)NCBI
GRCh373113,435,307 - 113,465,120 (-)NCBI
Build 363114,920,531 - 114,947,786 (-)NCBI Archive
Celera3111,846,332 - 111,873,586 (-)RGD
HuRef3110,810,207 - 110,840,018 (-)ENTREZGENE
CHM1_13113,398,653 - 113,428,492 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079422   ⟸   NM_025146
- Peptide Label: isoform 1
- UniProtKB: Q9GZZ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001295374   ⟸   NM_001308445
- Peptide Label: isoform 2
- UniProtKB: E7EQ69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417110   ⟸   ENST00000477813
RefSeq Acc Id: ENSP00000419729   ⟸   ENST00000478020
RefSeq Acc Id: ENSP00000240922   ⟸   ENST00000240922
RefSeq Acc Id: ENSP00000418473   ⟸   ENST00000493454
RefSeq Acc Id: ENSP00000417837   ⟸   ENST00000493900
RefSeq Acc Id: ENSP00000418323   ⟸   ENST00000481432
RefSeq Acc Id: ENSP00000418490   ⟸   ENST00000497255
RefSeq Acc Id: ENSP00000417488   ⟸   ENST00000497525
RefSeq Acc Id: ENSP00000480264   ⟸   ENST00000616174
RefSeq Acc Id: ENSP00000486244   ⟸   ENST00000630058
Protein Domains
N-acetyltransferase

Promoters
RGD ID:6865280
Promoter ID:EPDNEW_H5805
Type:initiation region
Name:NAA50_1
Description:N-acetyltransferase 50, NatE catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383113,746,241 - 113,746,301EPDNEW
RGD ID:6801321
Promoter ID:HG_KWN:45865
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_025146
Position:
Human AssemblyChrPosition (strand)Source
Build 363114,947,696 - 114,948,772 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1 copy number loss See cases [RCV000050766] Chr3:112168829..117393356 [GRCh38]
Chr3:111887676..117112203 [GRCh37]
Chr3:113370366..118594893 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1 copy number loss See cases [RCV000051544] Chr3:108242572..116169331 [GRCh38]
Chr3:107961419..115888178 [GRCh37]
Chr3:109444109..117370868 [NCBI36]
Chr3:3q13.13-13.31
pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1 copy number loss See cases [RCV000051545] Chr3:112479482..115774102 [GRCh38]
Chr3:112198329..115492949 [GRCh37]
Chr3:113681019..116975639 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3 copy number gain See cases [RCV000051722] Chr3:104621220..116093884 [GRCh38]
Chr3:104340064..115812731 [GRCh37]
Chr3:105822754..117295421 [NCBI36]
Chr3:3q13.11-13.31
pathogenic
GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1 copy number loss See cases [RCV000135320] Chr3:93819623..116887056 [GRCh38]
Chr3:93538467..116605903 [GRCh37]
Chr3:95021157..118088593 [NCBI36]
Chr3:3q11.1-13.31
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1 copy number loss See cases [RCV000135592] Chr3:112465096..115774102 [GRCh38]
Chr3:112183943..115492949 [GRCh37]
Chr3:113666633..116975639 [NCBI36]
Chr3:3q13.2-13.31
likely pathogenic
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 copy number loss See cases [RCV000138186] Chr3:97795369..115663349 [GRCh38]
Chr3:97514213..115382196 [GRCh37]
Chr3:98996903..116864886 [NCBI36]
Chr3:3q11.2-13.31
pathogenic|uncertain significance
GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1 copy number loss See cases [RCV000138434] Chr3:112465094..115774111 [GRCh38]
Chr3:112183941..115492958 [GRCh37]
Chr3:113666631..116975648 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1 copy number loss See cases [RCV000142219] Chr3:112425234..115795585 [GRCh38]
Chr3:112144081..115514432 [GRCh37]
Chr3:113626771..116997122 [NCBI36]
Chr3:3q13.2-13.31
pathogenic
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33
pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)x1 copy number loss See cases [RCV000446223] Chr3:112144081..115514432 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1 copy number loss See cases [RCV000448410] Chr3:105094834..117441953 [GRCh37]
Chr3:3q13.11-13.32
pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1 copy number loss See cases [RCV000511086] Chr3:112590339..116461450 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1 copy number loss not provided [RCV000682294] Chr3:110645295..115103586 [GRCh37]
Chr3:3q13.13-13.31
pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1 copy number loss not provided [RCV000682296] Chr3:111894832..116930109 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1 copy number loss not provided [RCV000856645] Chr3:112183943..115492949 [GRCh37]
Chr3:3q13.2-13.31
pathogenic
NM_025146.4(NAA50):c.145+8A>G single nucleotide variant not provided [RCV000888936] Chr3:113723951 [GRCh38]
Chr3:113442798 [GRCh37]
Chr3:3q13.31
benign
GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1 copy number loss See cases [RCV001194596] Chr3:113233952..118525556 [GRCh37]
Chr3:3q13.2-13.32
pathogenic
GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3 copy number gain not provided [RCV001259226] Chr3:112135341..115509260 [GRCh37]
Chr3:3q13.2-13.31
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29533 AgrOrtholog
COSMIC NAA50 COSMIC
Ensembl Genes ENSG00000121579 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000240922 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417110 UniProtKB/TrEMBL
  ENSP00000417488 UniProtKB/TrEMBL
  ENSP00000417837 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000418323 UniProtKB/TrEMBL
  ENSP00000418473 UniProtKB/TrEMBL
  ENSP00000418490 UniProtKB/TrEMBL
  ENSP00000419729 UniProtKB/TrEMBL
  ENSP00000480264 UniProtKB/TrEMBL
  ENSP00000486244 UniProtKB/TrEMBL
Ensembl Transcript ENST00000240922 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000477813 UniProtKB/TrEMBL
  ENST00000478020 UniProtKB/TrEMBL
  ENST00000481432 UniProtKB/TrEMBL
  ENST00000493454 UniProtKB/TrEMBL
  ENST00000493900 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000497255 UniProtKB/TrEMBL
  ENST00000497525 UniProtKB/TrEMBL
  ENST00000616174 UniProtKB/TrEMBL
  ENST00000630058 UniProtKB/TrEMBL
GTEx ENSG00000121579 GTEx
HGNC ID HGNC:29533 ENTREZGENE
Human Proteome Map NAA50 Human Proteome Map
InterPro Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GNAT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80218 UniProtKB/Swiss-Prot
NCBI Gene 80218 ENTREZGENE
OMIM 610834 OMIM
Pfam Acetyltransf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165697846 PharmGKB
PROSITE GNAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWJ2_HUMAN UniProtKB/TrEMBL
  A0A0D9SF32_HUMAN UniProtKB/TrEMBL
  B0AZT5_HUMAN UniProtKB/TrEMBL
  C9J5D1_HUMAN UniProtKB/TrEMBL
  C9J5J3_HUMAN UniProtKB/TrEMBL
  C9JZU6_HUMAN UniProtKB/TrEMBL
  E7EQ69 ENTREZGENE, UniProtKB/TrEMBL
  F8WCK0_HUMAN UniProtKB/TrEMBL
  NAA50_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary D3DN74 UniProtKB/Swiss-Prot
  Q68DQ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 NAA50  N-alpha-acetyltransferase 50, NatE catalytic subunit  NAA50  N(alpha)-acetyltransferase 50, NatE catalytic subunit  Symbol and/or name change 5135510 APPROVED
2011-07-27 NAA50  N(alpha)-acetyltransferase 50, NatE catalytic subunit  NAT13  N-acetyltransferase 13 (GCN5-related)  Symbol and/or name change 5135510 APPROVED