NAA60 (N-alpha-acetyltransferase 60, NatF catalytic subunit) - Rat Genome Database

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Gene: NAA60 (N-alpha-acetyltransferase 60, NatF catalytic subunit) Homo sapiens
Analyze
Symbol: NAA60
Name: N-alpha-acetyltransferase 60, NatF catalytic subunit
RGD ID: 1605347
HGNC Page HGNC:25875
Description: Enables histone H4 acetyltransferase activity; protein homodimerization activity; and protein-N-terminal amino-acid acetyltransferase activity. Involved in N-terminal peptidyl-methionine acetylation; cell population proliferation; and nucleosome assembly. Located in Golgi membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ11693; FLJ14154; HAT4; histone acetyltransferase type B protein 4; hNaa60; IBGC9; N(alpha)-acetyltransferase 60, NatF catalytic subunit; N-acetyltransferase 15; N-acetyltransferase 15 (GCN5-related, putative); N-alpha-acetyltransferase 60; N-alpha-acetyltransferase F; NAT15; NatF; natF catalytic subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38163,443,611 - 3,486,963 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl163,443,649 - 3,486,953 (+)EnsemblGRCh38hg38GRCh38
GRCh37163,493,611 - 3,536,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,433,669 - 3,476,964 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,700,439 - 3,743,751 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef163,463,338 - 3,506,627 (+)NCBIHuRef
CHM1_1163,493,794 - 3,537,081 (+)NCBICHM1_1
T2T-CHM13v2.0163,470,880 - 3,514,228 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
Golgi apparatus  (IEA)
Golgi membrane  (IBA,IDA,IEA)
membrane  (IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:12975309   PMID:14702039   PMID:16344560   PMID:17207965   PMID:21593219   PMID:21750686   PMID:21873635   PMID:21981917   PMID:24057671   PMID:25732826  
PMID:26164078   PMID:26288249   PMID:27320834   PMID:27550639   PMID:28196861   PMID:28986522   PMID:32296183   PMID:32513696   PMID:32814053   PMID:36539894   PMID:38480682  


Genomics

Comparative Map Data
NAA60
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38163,443,611 - 3,486,963 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl163,443,649 - 3,486,953 (+)EnsemblGRCh38hg38GRCh38
GRCh37163,493,611 - 3,536,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,433,669 - 3,476,964 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,700,439 - 3,743,751 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef163,463,338 - 3,506,627 (+)NCBIHuRef
CHM1_1163,493,794 - 3,537,081 (+)NCBICHM1_1
T2T-CHM13v2.0163,470,880 - 3,514,228 (+)NCBIT2T-CHM13v2.0
Naa60
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39163,690,365 - 3,722,645 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl163,690,239 - 3,722,634 (+)EnsemblGRCm39 Ensembl
GRCm38163,872,496 - 3,904,781 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl163,872,375 - 3,904,770 (+)EnsemblGRCm38mm10GRCm38
MGSCv37163,884,619 - 3,904,781 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36163,799,911 - 3,819,994 (+)NCBIMGSCv36mm8
Celera164,515,115 - 4,535,272 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.28NCBI
Naa60
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81012,129,026 - 12,149,053 (-)NCBIGRCr8
mRatBN7.21011,622,554 - 11,653,078 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1011,587,916 - 11,642,755 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1016,330,370 - 16,350,242 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01015,819,202 - 15,839,074 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01011,487,957 - 11,507,898 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01011,881,635 - 11,902,139 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1011,881,739 - 11,901,785 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01010,638,000 - 10,658,027 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41011,890,203 - 11,910,230 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11011,891,225 - 11,910,250 (-)NCBI
Celera1010,579,271 - 10,599,160 (-)NCBICelera
Cytogenetic Map10q12NCBI
Naa60
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544213,895,248 - 13,918,723 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544213,895,248 - 13,926,152 (-)NCBIChiLan1.0ChiLan1.0
NAA60
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2183,970,123 - 4,013,964 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1167,754,950 - 7,795,486 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0162,366,988 - 2,409,598 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1163,543,418 - 3,586,299 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl163,543,418 - 3,586,299 (+)Ensemblpanpan1.1panPan2
NAA60
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1637,759,233 - 37,784,224 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl637,761,497 - 37,793,290 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha626,326,630 - 26,351,632 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0637,974,395 - 37,999,403 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl637,974,395 - 38,008,463 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1637,757,363 - 37,782,355 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0637,650,694 - 37,675,683 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0638,061,211 - 38,086,221 (-)NCBIUU_Cfam_GSD_1.0
Naa60
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344105,871,233 - 105,891,072 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936694818,393 - 838,260 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936694818,386 - 838,258 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAA60
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl338,763,447 - 38,781,988 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1338,763,444 - 38,812,862 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2340,195,732 - 40,201,246 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NAA60
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.153,144,307 - 3,184,108 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl53,173,475 - 3,181,996 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606827,636,397 - 27,677,231 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Naa60
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248241,264,660 - 1,286,925 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248241,255,274 - 1,289,413 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NAA60
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3(chr16:2326840-3487106)x3 copy number gain See cases [RCV000052394] Chr16:2326840..3487106 [GRCh38]
Chr16:2376841..3537106 [GRCh37]
Chr16:2316842..3477107 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 copy number gain See cases [RCV000052395] Chr16:2717952..4041020 [GRCh38]
Chr16:2767953..4091021 [GRCh37]
Chr16:2707954..4031022 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3 copy number gain See cases [RCV000138346] Chr16:3303551..3965374 [GRCh38]
Chr16:3353551..4015375 [GRCh37]
Chr16:3293552..3955376 [NCBI36]
Chr16:16p13.3		 likely pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3 copy number gain See cases [RCV000139806] Chr16:3061267..3666094 [GRCh38]
Chr16:3111268..3716095 [GRCh37]
Chr16:3051269..3656096 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3 copy number gain See cases [RCV000240036] Chr16:3104050..3722491 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3 copy number gain See cases [RCV000240318] Chr16:2867891..3942436 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001083601.3(NAA60):c.515A>G (p.Lys172Arg) single nucleotide variant not specified [RCV004302270] Chr16:3483540 [GRCh38]
Chr16:3533540 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001083601.3(NAA60):c.14T>C (p.Val5Ala) single nucleotide variant not specified [RCV004306850] Chr16:3476241 [GRCh38]
Chr16:3526241 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 copy number gain See cases [RCV000511502] Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:3519135-3651271)x1 copy number loss not provided [RCV000683749] Chr16:3519135..3651271 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 copy number gain not provided [RCV000683747] Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3 copy number gain not provided [RCV000683748] Chr16:3265427..3731182 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.267C>T (p.Phe89=) single nucleotide variant not provided [RCV001091528] Chr16:3482528 [GRCh38]
Chr16:3532528 [GRCh37]
Chr16:16p13.3		 likely benign
NM_001083601.3(NAA60):c.654C>G (p.His218Gln) single nucleotide variant not provided [RCV000961025] Chr16:3484780 [GRCh38]
Chr16:3534780 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:3469027-4328143)x3 copy number gain not provided [RCV000849459] Chr16:3469027..4328143 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3 copy number gain not provided [RCV000849936] Chr16:3112024..3738078 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.567G>A (p.Thr189=) single nucleotide variant not provided [RCV000996180] Chr16:3483592 [GRCh38]
Chr16:3533592 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(3929917_?)del deletion Rubinstein-Taybi syndrome [RCV001950905] Chr16:3293141..3929917 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.109G>A (p.Glu37Lys) single nucleotide variant not specified [RCV004134468] Chr16:3476336 [GRCh38]
Chr16:3526336 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.181G>A (p.Gly61Ser) single nucleotide variant not specified [RCV004195845] Chr16:3479541 [GRCh38]
Chr16:3529541 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.32G>A (p.Ser11Asn) single nucleotide variant not specified [RCV004222935] Chr16:3476259 [GRCh38]
Chr16:3526259 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.352G>C (p.Glu118Gln) single nucleotide variant not specified [RCV004121830] Chr16:3483377 [GRCh38]
Chr16:3533377 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.637G>A (p.Val213Ile) single nucleotide variant not specified [RCV004087637] Chr16:3484763 [GRCh38]
Chr16:3534763 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3 copy number gain not provided [RCV003485082] Chr16:2606711..3935836 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3 copy number gain not provided [RCV003485084] Chr16:2643569..3716657 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3 copy number gain not specified [RCV003987138] Chr16:3112024..3506789 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.338-1G>C single nucleotide variant Basal ganglia calcification, idiopathic, 9, autosomal recessive [RCV004372006] Chr16:3483362 [GRCh38]
Chr16:3533362 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.130C>T (p.Arg44Cys) single nucleotide variant Basal ganglia calcification, idiopathic, 9, autosomal recessive [RCV004372008] Chr16:3479490 [GRCh38]
Chr16:3529490 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.428A>C (p.Asn143Thr) single nucleotide variant Basal ganglia calcification, idiopathic, 9, autosomal recessive [RCV004372010] Chr16:3483453 [GRCh38]
Chr16:3533453 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.323_329del (p.Arg108fs) deletion Basal ganglia calcification, idiopathic, 9, autosomal recessive [RCV004372005] Chr16:3482582..3482588 [GRCh38]
Chr16:3532582..3532588 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.50T>G (p.Leu17Arg) single nucleotide variant Basal ganglia calcification, idiopathic, 9, autosomal recessive [RCV004372009] Chr16:3476277 [GRCh38]
Chr16:3526277 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.391C>T (p.His131Tyr) single nucleotide variant Basal ganglia calcification, idiopathic, 9, autosomal recessive [RCV004372007] Chr16:3483416 [GRCh38]
Chr16:3533416 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1 copy number loss not provided [RCV003885471] Chr16:2990033..4837646 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_001083601.3(NAA60):c.352G>A (p.Glu118Lys) single nucleotide variant not specified [RCV004458611] Chr16:3483377 [GRCh38]
Chr16:3533377 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.382G>A (p.Ala128Thr) single nucleotide variant not specified [RCV004458623] Chr16:3483407 [GRCh38]
Chr16:3533407 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.655A>G (p.Ser219Gly) single nucleotide variant not specified [RCV004458632] Chr16:3484781 [GRCh38]
Chr16:3534781 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.527C>G (p.Thr176Ser) single nucleotide variant not specified [RCV004458626] Chr16:3483552 [GRCh38]
Chr16:3533552 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_001083601.3(NAA60):c.580A>C (p.Ile194Leu) single nucleotide variant not specified [RCV004652202] Chr16:3484706 [GRCh38]
Chr16:3534706 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85881-12268399)x3 copy number gain not provided [RCV004819312] Chr16:85881..12268399 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
NM_001083601.3(NAA60):c.432C>G (p.Asn144Lys) single nucleotide variant not specified [RCV004833828] Chr16:3483457 [GRCh38]
Chr16:3533457 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:513767-5555136)x3 copy number gain not provided [RCV004819313] Chr16:513767..5555136 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:3223993-3669897)x1 copy number loss not provided [RCV004819876] Chr16:3223993..3669897 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:17488
Count of miRNA genes:1190
Interacting mature miRNAs:1542
Transcripts:ENST00000360862, ENST00000407558, ENST00000414063, ENST00000421765, ENST00000424546, ENST00000570372, ENST00000570551, ENST00000570819, ENST00000571107, ENST00000571696, ENST00000571798, ENST00000572131, ENST00000572169, ENST00000572584, ENST00000572739, ENST00000572757, ENST00000572942, ENST00000573201, ENST00000573345, ENST00000573580, ENST00000573593, ENST00000573617, ENST00000574256, ENST00000574328, ENST00000574380, ENST00000574762, ENST00000574950, ENST00000575042, ENST00000575076, ENST00000575733, ENST00000575754, ENST00000575785, ENST00000575936, ENST00000576787, ENST00000576819, ENST00000576916, ENST00000577013, ENST00000608722, ENST00000608993, ENST00000610180
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597055110GWAS1151184_Heosinophil count QTL GWAS1151184 (human)1e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1634710713471072Human
597422523GWAS1518597_Hsystolic blood pressure QTL GWAS1518597 (human)2e-14systolic blood pressuresystolic blood pressure (CMO:0000004)1634855403485541Human
597461086GWAS1557160_Hdiastolic blood pressure QTL GWAS1557160 (human)2e-13diastolic blood pressurediastolic blood pressure (CMO:0000005)1634855403485541Human
597093359GWAS1189433_Hcerebral amyloid deposition measurement QTL GWAS1189433 (human)0.0000006cerebral cortex integrity trait (VT:0010923)1634505153450516Human
597056527GWAS1152601_Heosinophil count QTL GWAS1152601 (human)7e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1634710713471072Human
597270400GWAS1366474_Hdiastolic blood pressure QTL GWAS1366474 (human)2e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)1634855403485541Human
597500807GWAS1596881_Hsystolic blood pressure QTL GWAS1596881 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1634844513484452Human
597271443GWAS1367517_Hsystolic blood pressure QTL GWAS1367517 (human)1e-11systolic blood pressuresystolic blood pressure (CMO:0000004)1634855403485541Human
407273610GWAS922586_Heosinophil percentage of leukocytes QTL GWAS922586 (human)3e-11eosinophil quantity (VT:0002602)blood eosinophil count to total leukocyte count ratio (CMO:0000369)1634710713471072Human
407078221GWAS727197_Htuberculosis QTL GWAS727197 (human)0.000003tuberculosis1634590563459057Human
597093353GWAS1189427_Hcerebral amyloid deposition measurement QTL GWAS1189427 (human)0.0000005cerebral cortex integrity trait (VT:0010923)1634505153450516Human
407336776GWAS985752_Heosinophil count QTL GWAS985752 (human)6e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)1634710713471072Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_045230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX883690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG472911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG822206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU501490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA736660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA786716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC339939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC401343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000360862   ⟹   ENSP00000354108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,457,993 - 3,486,952 (+)Ensembl
Ensembl Acc Id: ENST00000407558   ⟹   ENSP00000385903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,680 - 3,486,953 (+)Ensembl
Ensembl Acc Id: ENST00000414063   ⟹   ENSP00000393224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,012 - 3,486,952 (+)Ensembl
Ensembl Acc Id: ENST00000421765   ⟹   ENSP00000405873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,457,985 - 3,485,578 (+)Ensembl
Ensembl Acc Id: ENST00000424546   ⟹   ENSP00000401237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,682 - 3,485,574 (+)Ensembl
Ensembl Acc Id: ENST00000570372   ⟹   ENSP00000461507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,677 - 3,479,601 (+)Ensembl
Ensembl Acc Id: ENST00000570551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,078 - 3,484,935 (+)Ensembl
Ensembl Acc Id: ENST00000570819   ⟹   ENSP00000460763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,130 - 3,485,604 (+)Ensembl
Ensembl Acc Id: ENST00000571107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,051 - 3,482,911 (+)Ensembl
Ensembl Acc Id: ENST00000571696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,076 - 3,476,299 (+)Ensembl
Ensembl Acc Id: ENST00000571798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,479,580 - 3,483,799 (+)Ensembl
Ensembl Acc Id: ENST00000572131   ⟹   ENSP00000459790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,079 - 3,483,388 (+)Ensembl
Ensembl Acc Id: ENST00000572169   ⟹   ENSP00000458928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,706 - 3,485,878 (+)Ensembl
Ensembl Acc Id: ENST00000572584   ⟹   ENSP00000459057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,045 - 3,486,914 (+)Ensembl
Ensembl Acc Id: ENST00000572739   ⟹   ENSP00000461438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,071 - 3,484,909 (+)Ensembl
Ensembl Acc Id: ENST00000572757   ⟹   ENSP00000459750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,649 - 3,483,449 (+)Ensembl
Ensembl Acc Id: ENST00000572942   ⟹   ENSP00000461730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,078 - 3,485,786 (+)Ensembl
Ensembl Acc Id: ENST00000573201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,723 - 3,449,945 (+)Ensembl
Ensembl Acc Id: ENST00000573345   ⟹   ENSP00000458717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,077 - 3,484,753 (+)Ensembl
Ensembl Acc Id: ENST00000573580   ⟹   ENSP00000459055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,706 - 3,484,872 (+)Ensembl
Ensembl Acc Id: ENST00000573593   ⟹   ENSP00000459084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,668 - 3,483,414 (+)Ensembl
Ensembl Acc Id: ENST00000573617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,674 - 3,448,595 (+)Ensembl
Ensembl Acc Id: ENST00000574256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,754 - 3,448,596 (+)Ensembl
Ensembl Acc Id: ENST00000574328   ⟹   ENSP00000459544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,456,731 - 3,483,385 (+)Ensembl
Ensembl Acc Id: ENST00000574380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,078 - 3,483,739 (+)Ensembl
Ensembl Acc Id: ENST00000574762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,788 - 3,448,967 (+)Ensembl
Ensembl Acc Id: ENST00000574950   ⟹   ENSP00000459275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,706 - 3,482,581 (+)Ensembl
Ensembl Acc Id: ENST00000575042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,746 - 3,450,145 (+)Ensembl
Ensembl Acc Id: ENST00000575076   ⟹   ENSP00000458667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,078 - 3,486,952 (+)Ensembl
Ensembl Acc Id: ENST00000575733   ⟹   ENSP00000461443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,688 - 3,482,540 (+)Ensembl
Ensembl Acc Id: ENST00000575754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,483,346 - 3,485,207 (+)Ensembl
Ensembl Acc Id: ENST00000575936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,678 - 3,483,443 (+)Ensembl
Ensembl Acc Id: ENST00000576787   ⟹   ENSP00000459188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,076 - 3,479,591 (+)Ensembl
Ensembl Acc Id: ENST00000576819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,484,577 - 3,485,559 (+)Ensembl
Ensembl Acc Id: ENST00000576916   ⟹   ENSP00000461703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,078 - 3,485,907 (+)Ensembl
Ensembl Acc Id: ENST00000577013   ⟹   ENSP00000458575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,012 - 3,485,190 (+)Ensembl
Ensembl Acc Id: ENST00000615865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,734 - 3,450,165 (+)Ensembl
Ensembl Acc Id: ENST00000648681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,458,105 - 3,486,841 (+)Ensembl
Ensembl Acc Id: ENST00000649205   ⟹   ENSP00000497988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,694 - 3,486,909 (+)Ensembl
Ensembl Acc Id: ENST00000649360   ⟹   ENSP00000497411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,443,725 - 3,486,916 (+)Ensembl
RefSeq Acc Id: NM_001083600   ⟹   NP_001077069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,486,953 (+)NCBI
GRCh37163,493,611 - 3,536,963 (+)NCBI
Build 36163,447,993 - 3,476,964 (+)NCBI Archive
Celera163,700,439 - 3,743,751 (+)RGD
HuRef163,463,338 - 3,506,627 (+)RGD
CHM1_1163,508,106 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,485,311 - 3,514,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001083601   ⟹   NP_001077070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,443,680 - 3,486,953 (+)NCBI
GRCh37163,493,611 - 3,536,963 (+)NCBI
Build 36163,433,669 - 3,476,964 (+)NCBI Archive
Celera163,700,439 - 3,743,751 (+)RGD
HuRef163,463,338 - 3,506,627 (+)RGD
CHM1_1163,493,737 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,470,949 - 3,514,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317093   ⟹   NP_001304022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,443,611 - 3,486,963 (+)NCBI
CHM1_1163,493,737 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,470,880 - 3,514,228 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317094   ⟹   NP_001304023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,486,953 (+)NCBI
CHM1_1163,508,106 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,485,311 - 3,514,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317095   ⟹   NP_001304024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,486,953 (+)NCBI
CHM1_1163,508,106 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,485,311 - 3,514,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317096   ⟹   NP_001304025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,486,953 (+)NCBI
CHM1_1163,508,106 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,485,311 - 3,514,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317097   ⟹   NP_001304026
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,486,953 (+)NCBI
CHM1_1163,508,106 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,485,311 - 3,514,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317098   ⟹   NP_001304027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,486,953 (+)NCBI
CHM1_1163,508,106 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,485,311 - 3,514,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024845   ⟹   NP_079121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,486,953 (+)NCBI
GRCh37163,493,611 - 3,536,963 (+)NCBI
Build 36163,447,993 - 3,476,964 (+)NCBI Archive
Celera163,700,439 - 3,743,751 (+)RGD
HuRef163,463,338 - 3,506,627 (+)RGD
CHM1_1163,508,106 - 3,537,081 (+)NCBI
T2T-CHM13v2.0163,485,311 - 3,514,218 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001077069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001077070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304022 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304024 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304025 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304026 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304027 (Get FASTA)   NCBI Sequence Viewer  
  NP_079121 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH11267 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88907 (Get FASTA)   NCBI Sequence Viewer  
  ADO22497 (Get FASTA)   NCBI Sequence Viewer  
  BAB14853 (Get FASTA)   NCBI Sequence Viewer  
  BAG52462 (Get FASTA)   NCBI Sequence Viewer  
  BAG59702 (Get FASTA)   NCBI Sequence Viewer  
  BAG60760 (Get FASTA)   NCBI Sequence Viewer  
  BAG63686 (Get FASTA)   NCBI Sequence Viewer  
  CAE92069 (Get FASTA)   NCBI Sequence Viewer  
  CAG33605 (Get FASTA)   NCBI Sequence Viewer  
  EAW85358 (Get FASTA)   NCBI Sequence Viewer  
  EAW85359 (Get FASTA)   NCBI Sequence Viewer  
  EAW85360 (Get FASTA)   NCBI Sequence Viewer  
  EAW85361 (Get FASTA)   NCBI Sequence Viewer  
  EAW85362 (Get FASTA)   NCBI Sequence Viewer  
  EAW85363 (Get FASTA)   NCBI Sequence Viewer  
  EAW85364 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354108
  ENSP00000354108.5
  ENSP00000385903
  ENSP00000385903.4
  ENSP00000393224
  ENSP00000393224.2
  ENSP00000401237
  ENSP00000401237.2
  ENSP00000405873
  ENSP00000405873.3
  ENSP00000458575.2
  ENSP00000458667
  ENSP00000458667.1
  ENSP00000458928.2
  ENSP00000459055.1
  ENSP00000459057.1
  ENSP00000460763
  ENSP00000460763.1
  ENSP00000461703
  ENSP00000461730
  ENSP00000461730.1
  ENSP00000497411.1
  ENSP00000497988.1
GenBank Protein Q9H7X0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001077070   ⟸   NM_001083601
- Peptide Label: isoform a
- UniProtKB: Q6IA31 (UniProtKB/Swiss-Prot),   E7EQ65 (UniProtKB/Swiss-Prot),   D3DUC2 (UniProtKB/Swiss-Prot),   B4DYC4 (UniProtKB/Swiss-Prot),   B4DPZ8 (UniProtKB/Swiss-Prot),   B4DLZ0 (UniProtKB/Swiss-Prot),   B3KRQ0 (UniProtKB/Swiss-Prot),   Q6UX26 (UniProtKB/Swiss-Prot),   Q9H7X0 (UniProtKB/Swiss-Prot),   A0A384NYU5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001077069   ⟸   NM_001083600
- Peptide Label: isoform a
- UniProtKB: Q6IA31 (UniProtKB/Swiss-Prot),   E7EQ65 (UniProtKB/Swiss-Prot),   D3DUC2 (UniProtKB/Swiss-Prot),   B4DYC4 (UniProtKB/Swiss-Prot),   B4DPZ8 (UniProtKB/Swiss-Prot),   B4DLZ0 (UniProtKB/Swiss-Prot),   B3KRQ0 (UniProtKB/Swiss-Prot),   Q6UX26 (UniProtKB/Swiss-Prot),   Q9H7X0 (UniProtKB/Swiss-Prot),   A0A384NYU5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_079121   ⟸   NM_024845
- Peptide Label: isoform a
- UniProtKB: Q6IA31 (UniProtKB/Swiss-Prot),   E7EQ65 (UniProtKB/Swiss-Prot),   D3DUC2 (UniProtKB/Swiss-Prot),   B4DYC4 (UniProtKB/Swiss-Prot),   B4DPZ8 (UniProtKB/Swiss-Prot),   B4DLZ0 (UniProtKB/Swiss-Prot),   B3KRQ0 (UniProtKB/Swiss-Prot),   Q6UX26 (UniProtKB/Swiss-Prot),   Q9H7X0 (UniProtKB/Swiss-Prot),   A0A384NYU5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304022   ⟸   NM_001317093
- Peptide Label: isoform b
- UniProtKB: Q9H7X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304025   ⟸   NM_001317096
- Peptide Label: isoform e
- UniProtKB: Q9H7X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304026   ⟸   NM_001317097
- Peptide Label: isoform f
- UniProtKB: Q9H7X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304027   ⟸   NM_001317098
- Peptide Label: isoform f
- UniProtKB: Q9H7X0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304023   ⟸   NM_001317094
- Peptide Label: isoform c
- UniProtKB: I3L153 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304024   ⟸   NM_001317095
- Peptide Label: isoform d
- UniProtKB: Q9H7X0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000497411   ⟸   ENST00000649360
Ensembl Acc Id: ENSP00000497988   ⟸   ENST00000649205
Ensembl Acc Id: ENSP00000401237   ⟸   ENST00000424546
Ensembl Acc Id: ENSP00000461507   ⟸   ENST00000570372
Ensembl Acc Id: ENSP00000460763   ⟸   ENST00000570819
Ensembl Acc Id: ENSP00000354108   ⟸   ENST00000360862
Ensembl Acc Id: ENSP00000393224   ⟸   ENST00000414063
Ensembl Acc Id: ENSP00000459057   ⟸   ENST00000572584
Ensembl Acc Id: ENSP00000458928   ⟸   ENST00000572169
Ensembl Acc Id: ENSP00000461730   ⟸   ENST00000572942
Ensembl Acc Id: ENSP00000459750   ⟸   ENST00000572757
Ensembl Acc Id: ENSP00000461438   ⟸   ENST00000572739
Ensembl Acc Id: ENSP00000459790   ⟸   ENST00000572131
Ensembl Acc Id: ENSP00000459084   ⟸   ENST00000573593
Ensembl Acc Id: ENSP00000459055   ⟸   ENST00000573580
Ensembl Acc Id: ENSP00000458717   ⟸   ENST00000573345
Ensembl Acc Id: ENSP00000459275   ⟸   ENST00000574950
Ensembl Acc Id: ENSP00000459544   ⟸   ENST00000574328
Ensembl Acc Id: ENSP00000458667   ⟸   ENST00000575076
Ensembl Acc Id: ENSP00000461443   ⟸   ENST00000575733
Ensembl Acc Id: ENSP00000461703   ⟸   ENST00000576916
Ensembl Acc Id: ENSP00000459188   ⟸   ENST00000576787
Ensembl Acc Id: ENSP00000458575   ⟸   ENST00000577013
Ensembl Acc Id: ENSP00000385903   ⟸   ENST00000407558
Ensembl Acc Id: ENSP00000405873   ⟸   ENST00000421765
Protein Domains
N-acetyltransferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H7X0-F1-model_v2 AlphaFold Q9H7X0 1-242 view protein structure

Promoters
RGD ID:6793316
Promoter ID:HG_KWN:22893
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001083601,   OTTHUMT00000251511
Position:
Human AssemblyChrPosition (strand)Source
Build 36163,433,316 - 3,434,092 (+)MPROMDB
RGD ID:7231155
Promoter ID:EPDNEW_H21323
Type:initiation region
Name:NAA60_2
Description:N-acetyltransferase 60, NatF catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21324  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,443,680 - 3,443,740EPDNEW
RGD ID:6793603
Promoter ID:HG_KWN:22894
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:ENST00000360862,   NM_001083600,   NM_024845,   UC010BTK.1,   UC010BTL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36163,447,646 - 3,448,146 (+)MPROMDB
RGD ID:7231157
Promoter ID:EPDNEW_H21324
Type:initiation region
Name:NAA60_1
Description:N-acetyltransferase 60, NatF catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21323  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,458,045 - 3,458,105EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25875 AgrOrtholog
COSMIC NAA60 COSMIC
Ensembl Genes ENSG00000122390 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000360862 ENTREZGENE
  ENST00000360862.9 UniProtKB/Swiss-Prot
  ENST00000407558 ENTREZGENE
  ENST00000407558.9 UniProtKB/Swiss-Prot
  ENST00000414063 ENTREZGENE
  ENST00000414063.6 UniProtKB/Swiss-Prot
  ENST00000421765 ENTREZGENE
  ENST00000421765.7 UniProtKB/Swiss-Prot
  ENST00000424546 ENTREZGENE
  ENST00000424546.6 UniProtKB/Swiss-Prot
  ENST00000570819 ENTREZGENE
  ENST00000570819.5 UniProtKB/Swiss-Prot
  ENST00000572169.6 UniProtKB/Swiss-Prot
  ENST00000572584.2 UniProtKB/Swiss-Prot
  ENST00000572942 ENTREZGENE
  ENST00000572942.5 UniProtKB/Swiss-Prot
  ENST00000573580.5 UniProtKB/Swiss-Prot
  ENST00000575076 ENTREZGENE
  ENST00000575076.5 UniProtKB/Swiss-Prot
  ENST00000576916 ENTREZGENE
  ENST00000577013.6 UniProtKB/Swiss-Prot
  ENST00000649205.1 UniProtKB/Swiss-Prot
  ENST00000649360.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.630.30 UniProtKB/Swiss-Prot
GTEx ENSG00000122390 GTEx
HGNC ID HGNC:25875 ENTREZGENE
Human Proteome Map NAA60 Human Proteome Map
InterPro Acyl_CoA_acyltransferase UniProtKB/Swiss-Prot
  GNAT_dom UniProtKB/Swiss-Prot
  NAA60-like UniProtKB/Swiss-Prot
KEGG Report hsa:79903 UniProtKB/Swiss-Prot
NCBI Gene 79903 ENTREZGENE
OMIM 614246 OMIM
PANTHER N-ALPHA-ACETYLTRANSFERASE 60 UniProtKB/Swiss-Prot
  PTHR14744 UniProtKB/Swiss-Prot
Pfam Acetyltransf_1 UniProtKB/Swiss-Prot
PharmGKB PA164723438 PharmGKB
PROSITE GNAT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55729 UniProtKB/Swiss-Prot
UniProt A0A384NYU5 ENTREZGENE, UniProtKB/TrEMBL
  B3KRQ0 ENTREZGENE
  B4DLZ0 ENTREZGENE
  B4DPZ8 ENTREZGENE
  B4DYC4 ENTREZGENE
  D3DUC2 ENTREZGENE
  E7EQ65 ENTREZGENE
  I3L153 ENTREZGENE, UniProtKB/TrEMBL
  I3L1B9_HUMAN UniProtKB/TrEMBL
  I3L1T4_HUMAN UniProtKB/TrEMBL
  I3L1X5_HUMAN UniProtKB/TrEMBL
  I3L205_HUMAN UniProtKB/TrEMBL
  I3L2B4_HUMAN UniProtKB/TrEMBL
  I3L2K7_HUMAN UniProtKB/TrEMBL
  I3L2M6_HUMAN UniProtKB/TrEMBL
  I3L4Q3_HUMAN UniProtKB/TrEMBL
  I3L4Q5_HUMAN UniProtKB/TrEMBL
  I3L4T5_HUMAN UniProtKB/TrEMBL
  NAA60_HUMAN UniProtKB/Swiss-Prot
  Q6IA31 ENTREZGENE
  Q6UX26 ENTREZGENE
  Q9H7X0 ENTREZGENE
UniProt Secondary B3KRQ0 UniProtKB/Swiss-Prot
  B4DLZ0 UniProtKB/Swiss-Prot
  B4DPZ8 UniProtKB/Swiss-Prot
  B4DYC4 UniProtKB/Swiss-Prot
  D3DUC2 UniProtKB/Swiss-Prot
  E7EQ65 UniProtKB/Swiss-Prot
  Q6IA31 UniProtKB/Swiss-Prot
  Q6UX26 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-11-26 NAA60  N-alpha-acetyltransferase 60, NatF catalytic subunit  NAA60  N(alpha)-acetyltransferase 60, NatF catalytic subunit  Symbol and/or name change 5135510 APPROVED
2011-09-01 NAA60  N(alpha)-acetyltransferase 60, NatF catalytic subunit  NAT15  N-acetyltransferase 15 (GCN5-related, putative)  Symbol and/or name change 5135510 APPROVED