NMNAT3 (nicotinamide nucleotide adenylyltransferase 3) - Rat Genome Database

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Gene: NMNAT3 (nicotinamide nucleotide adenylyltransferase 3) Homo sapiens
Analyze
Symbol: NMNAT3
Name: nicotinamide nucleotide adenylyltransferase 3
RGD ID: 1319314
HGNC Page HGNC:20989
Description: Enables nicotinate-nucleotide adenylyltransferase activity. Predicted to be involved in NAD biosynthetic process via the salvage pathway and nicotinamide metabolic process. Predicted to act upstream of or within response to wounding. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FKSG76; NaMN adenylyltransferase 3; nicotinamide mononucleotide adenylyltransferase 3; nicotinamide-nucleotide adenylyltransferase 3; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3; nicotinate-nucleotide adenylyltransferase 3; NMN adenylyltransferase 3; NMN/NaMN adenylyltransferase 3; PNAT-3; PNAT3; pyridine nucleotide adenylyltransferase 3
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
GRCh383139,560,180 - 139,678,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3139,560,180 - 139,678,017 (-)EnsemblGRCh38hg38GRCh38
GRCh373139,279,022 - 139,396,892 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,761,723 - 140,879,530 (-)NCBINCBI36Build 36hg18NCBI36
Build 343140,761,731 - 140,879,538NCBI
Celera3137,701,933 - 137,819,739 (-)NCBICelera
Cytogenetic Map3q23NCBI
HuRef3136,654,467 - 136,772,328 (-)NCBIHuRef
CHM1_13139,242,474 - 139,360,320 (-)NCBICHM1_1
T2T-CHM13v2.03142,307,606 - 142,425,486 (-)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
axon  (IEA,ISO)
mitochondrial matrix  (IEA,TAS)
mitochondrion  (HTP,IBA,IDA,IEA)
neuronal cell body  (IEA,ISO)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways. Houtkooper RH, etal., Endocr Rev. 2010 Apr;31(2):194-223. doi: 10.1210/er.2009-0026. Epub 2009 Dec 9.
3. Axonal protection by Nmnat3 overexpression with involvement of autophagy in optic nerve degeneration. Kitaoka Y, etal., Cell Death Dis. 2013 Oct 17;4:e860. doi: 10.1038/cddis.2013.391.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11788603   PMID:12477932   PMID:12574164   PMID:14704851   PMID:15489334   PMID:16118205   PMID:17402747   PMID:18344983   PMID:19448972   PMID:20117162   PMID:20388704   PMID:20457531  
PMID:20954240   PMID:21873635   PMID:24155910   PMID:26186194   PMID:28514442   PMID:31056398   PMID:32457219   PMID:33961781   PMID:34800366  


Genomics

Comparative Map Data
NMNAT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383139,560,180 - 139,678,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3139,560,180 - 139,678,017 (-)EnsemblGRCh38hg38GRCh38
GRCh373139,279,022 - 139,396,892 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363140,761,723 - 140,879,530 (-)NCBINCBI36Build 36hg18NCBI36
Build 343140,761,731 - 140,879,538NCBI
Celera3137,701,933 - 137,819,739 (-)NCBICelera
Cytogenetic Map3q23NCBI
HuRef3136,654,467 - 136,772,328 (-)NCBIHuRef
CHM1_13139,242,474 - 139,360,320 (-)NCBICHM1_1
T2T-CHM13v2.03142,307,606 - 142,425,486 (-)NCBIT2T-CHM13v2.0
Nmnat3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39998,169,487 - 98,302,586 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl998,169,488 - 98,302,491 (+)EnsemblGRCm39 Ensembl
GRCm38998,287,433 - 98,420,533 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl998,287,435 - 98,420,438 (+)EnsemblGRCm38mm10GRCm38
MGSCv37998,197,002 - 98,311,847 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36998,105,935 - 98,220,780 (+)NCBIMGSCv36mm8
Celera997,850,409 - 97,963,936 (+)NCBICelera
Cytogenetic Map9E3.3NCBI
cM Map951.35NCBI
Nmnat3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88107,771,124 - 107,888,528 (+)NCBIGRCr8
GRCr8 Ensembl8107,771,509 - 107,900,016 (+)EnsemblGRCr8 Ensembl
mRatBN7.2898,892,168 - 99,003,912 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl898,873,398 - 99,020,645 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8104,561,145 - 104,672,788 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08102,760,392 - 102,872,044 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08100,602,906 - 100,714,552 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08106,317,038 - 106,429,535 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8106,317,124 - 106,429,522 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08105,760,369 - 105,871,374 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48103,472,426 - 103,584,246 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera898,304,722 - 98,415,332 (+)NCBICelera
RGSC_v3.18103,491,880 - 103,603,693 (+)NCBI
Cytogenetic Map8q31NCBI
Nmnat3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555085,913,898 - 6,022,128 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555085,909,808 - 6,024,301 (+)NCBIChiLan1.0ChiLan1.0
NMNAT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22137,472,086 - 137,592,706 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13137,476,826 - 137,597,430 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03136,594,825 - 136,715,437 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13144,196,529 - 144,313,658 (-)NCBIpanpan1.1PanPan1.1panPan2
NMNAT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12335,714,162 - 35,829,150 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2335,714,933 - 35,829,049 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2335,701,815 - 35,816,030 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02336,250,931 - 36,365,957 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2336,250,934 - 36,366,221 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12335,933,008 - 36,047,352 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02336,006,480 - 36,121,350 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02336,249,065 - 36,363,588 (-)NCBIUU_Cfam_GSD_1.0
Nmnat3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560274,886,743 - 75,026,495 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365401,636,380 - 1,766,306 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365401,653,243 - 1,766,244 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NMNAT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1380,429,639 - 80,556,790 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11380,431,405 - 80,556,808 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21388,294,211 - 88,321,441 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NMNAT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11550,880,146 - 50,990,958 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1550,880,235 - 50,991,281 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604123,853,934 - 23,964,976 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nmnat3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473016,158,485 - 16,231,670 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473016,151,185 - 16,289,260 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NMNAT3
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24
pathogenic
GRCh38/hg38 3q23(chr3:139525129-140095577)x3 copy number gain See cases [RCV000051536] Chr3:139525129..140095577 [GRCh38]
Chr3:139243971..139814419 [GRCh37]
Chr3:140726661..141297109 [NCBI36]
Chr3:3q23
uncertain significance
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1 copy number loss See cases [RCV000134711] Chr3:137932000..144468739 [GRCh38]
Chr3:137650842..144187581 [GRCh37]
Chr3:139133532..145670271 [NCBI36]
Chr3:3q22.3-24
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 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3 copy number gain See cases [RCV000136768] Chr3:138629115..140055056 [GRCh38]
Chr3:138347957..139773898 [GRCh37]
Chr3:139830647..141256588 [NCBI36]
Chr3:3q22.3-23
pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q23(chr3:139468925-140102684)x3 copy number gain See cases [RCV000138884] Chr3:139468925..140102684 [GRCh38]
Chr3:139187767..139821526 [GRCh37]
Chr3:140670457..141304216 [NCBI36]
Chr3:3q23
uncertain significance
GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1 copy number loss See cases [RCV000139135] Chr3:137991123..143618786 [GRCh38]
Chr3:137709965..143337628 [GRCh37]
Chr3:139192655..144820318 [NCBI36]
Chr3:3q22.3-24
pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23
pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
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 3q23(chr3:139466635-140108900)x3 copy number gain See cases [RCV000142322] Chr3:139466635..140108900 [GRCh38]
Chr3:139185477..139827742 [GRCh37]
Chr3:140668167..141310432 [NCBI36]
Chr3:3q23
uncertain significance
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23
likely pathogenic
GRCh37/hg19 3q23(chr3:139185477-139832220)x3 copy number gain See cases [RCV000511779] Chr3:139185477..139832220 [GRCh37]
Chr3:3q23
uncertain significance
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 3q22.3-23(chr3:138023193-140565017)x3 copy number gain not provided [RCV000682308] Chr3:138023193..140565017 [GRCh37]
Chr3:3q22.3-23
uncertain significance
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 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23
uncertain significance
GRCh37/hg19 3q23(chr3:139185788-139827742)x3 copy number gain not provided [RCV000846549] Chr3:139185788..139827742 [GRCh37]
Chr3:3q23
uncertain significance
GRCh37/hg19 3q23(chr3:139171944-139827713)x3 copy number gain not provided [RCV001005473] Chr3:139171944..139827713 [GRCh37]
Chr3:3q23
uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q23(chr3:138737687-142053396)x1 copy number loss not provided [RCV001259239] Chr3:138737687..142053396 [GRCh37]
Chr3:3q23
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q23(chr3:139339589-139659995)x4 copy number gain not provided [RCV001834294] Chr3:139339589..139659995 [GRCh37]
Chr3:3q23
uncertain significance
GRCh37/hg19 3q23(chr3:139185478-139827713)x3 copy number gain not provided [RCV001833051] Chr3:139185478..139827713 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.191G>A (p.Arg64Gln) single nucleotide variant not specified [RCV004290413] Chr3:139578974 [GRCh38]
Chr3:139297816 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.306C>A (p.Ser102Arg) single nucleotide variant not specified [RCV004135608] Chr3:139573668 [GRCh38]
Chr3:139292510 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.608C>T (p.Thr203Ile) single nucleotide variant not specified [RCV004106822] Chr3:139561161 [GRCh38]
Chr3:139280003 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.271A>G (p.Met91Val) single nucleotide variant not specified [RCV004115172] Chr3:139578894 [GRCh38]
Chr3:139297736 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.259C>A (p.Gln87Lys) single nucleotide variant not specified [RCV004072781] Chr3:139578906 [GRCh38]
Chr3:139297748 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.452C>T (p.Ala151Val) single nucleotide variant not specified [RCV004255857] Chr3:139561317 [GRCh38]
Chr3:139280159 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.409G>A (p.Asp137Asn) single nucleotide variant not specified [RCV004343952] Chr3:139561360 [GRCh38]
Chr3:139280202 [GRCh37]
Chr3:3q23
uncertain significance
Single allele deletion not provided [RCV003448666] Chr3:137912620..141811656 [GRCh37]
Chr3:3q22.3-23
pathogenic
NM_001401600.1(NMNAT3):c.410A>G (p.Asp137Gly) single nucleotide variant not specified [RCV004495713] Chr3:139561359 [GRCh38]
Chr3:139280201 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.196G>A (p.Ala66Thr) single nucleotide variant not specified [RCV004495715] Chr3:139578969 [GRCh38]
Chr3:139297811 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.236G>A (p.Arg79Gln) single nucleotide variant not specified [RCV004495711] Chr3:139578929 [GRCh38]
Chr3:139297771 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.476A>G (p.Lys159Arg) single nucleotide variant not specified [RCV004495714] Chr3:139561293 [GRCh38]
Chr3:139280135 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.278C>G (p.Thr93Arg) single nucleotide variant not specified [RCV004495712] Chr3:139578887 [GRCh38]
Chr3:139297729 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.674C>T (p.Thr225Met) single nucleotide variant not specified [RCV004643859] Chr3:139561095 [GRCh38]
Chr3:139279937 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.643G>A (p.Val215Ile) single nucleotide variant not specified [RCV004827223] Chr3:139561126 [GRCh38]
Chr3:139279968 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.461A>G (p.Gln154Arg) single nucleotide variant not specified [RCV005376876] Chr3:139561308 [GRCh38]
Chr3:139280150 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.193G>A (p.Val65Met) single nucleotide variant not specified [RCV005382988] Chr3:139578972 [GRCh38]
Chr3:139297814 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.431C>A (p.Thr144Asn) single nucleotide variant not specified [RCV005376877] Chr3:139561338 [GRCh38]
Chr3:139280180 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.427C>A (p.Gln143Lys) single nucleotide variant not specified [RCV005382987] Chr3:139561342 [GRCh38]
Chr3:139280184 [GRCh37]
Chr3:3q23
uncertain significance
NM_001401600.1(NMNAT3):c.175G>A (p.Ala59Thr) single nucleotide variant not specified [RCV004255560] Chr3:139578990 [GRCh38]
Chr3:139297832 [GRCh37]
Chr3:3q23
uncertain significance
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 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24
pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4704
Count of miRNA genes:976
Interacting mature miRNAs:1186
Transcripts:ENST00000296202, ENST00000339837, ENST00000406164, ENST00000406824, ENST00000413939, ENST00000505779, ENST00000506254, ENST00000507242, ENST00000509034, ENST00000509291, ENST00000509447, ENST00000509737, ENST00000511003, ENST00000511444, ENST00000512391, ENST00000514703
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
597361006GWAS1457080_Hgut microbiome measurement QTL GWAS1457080 (human)2e-08gut microbiome measurement3139564620139564621Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human

Markers in Region
D3S2435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,334,208 - 139,334,348UniSTSGRCh37
Build 363140,816,898 - 140,817,038RGDNCBI36
Celera3137,757,107 - 137,757,251RGD
Cytogenetic Map3q23UniSTS
HuRef3136,709,639 - 136,709,787UniSTS
Marshfield Genetic Map3152.62UniSTS
Marshfield Genetic Map3152.62RGD
RH80318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,279,066 - 139,279,303UniSTSGRCh37
Build 363140,761,756 - 140,761,993RGDNCBI36
Celera3137,701,966 - 137,702,203RGD
Cytogenetic Map3q23UniSTS
HuRef3136,654,511 - 136,654,748UniSTS
SHGC-144684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,398,070 - 139,398,352UniSTSGRCh37
Build 363140,880,760 - 140,881,042RGDNCBI36
Celera3137,820,970 - 137,821,252RGD
Cytogenetic Map3q23UniSTS
HuRef3136,773,514 - 136,773,796UniSTS
RH47682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,327,508 - 139,327,684UniSTSGRCh37
Build 363140,810,198 - 140,810,374RGDNCBI36
Celera3137,750,404 - 137,750,580RGD
Cytogenetic Map3q23UniSTS
HuRef3136,702,937 - 136,703,112UniSTS
GeneMap99-GB4 RH Map3487.68UniSTS
RH68460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373139,296,035 - 139,296,184UniSTSGRCh37
Build 363140,778,725 - 140,778,874RGDNCBI36
Celera3137,718,934 - 137,719,083RGD
Cytogenetic Map3q23UniSTS
HuRef3136,671,483 - 136,671,632UniSTS
GeneMap99-GB4 RH Map3498.63UniSTS
NCBI RH Map31200.8UniSTS
AU049037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371247,108,239 - 247,109,015UniSTSGRCh37
Celera3137,751,639 - 137,752,465UniSTS
Cytogenetic Map3q23UniSTS
HuRef3136,704,171 - 136,704,997UniSTS


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 2427 2788 2239 4919 1720 2311 2 621 1826 463 2231 7169 6346 38 3711 1 844 1727 1579 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001200047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001401612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_174944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA894638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC046134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF345564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB454216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY004197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296202   ⟹   ENSP00000296202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,191 - 139,677,972 (-)Ensembl
Ensembl Acc Id: ENST00000339837   ⟹   ENSP00000340523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,191 - 139,677,998 (-)Ensembl
Ensembl Acc Id: ENST00000413939   ⟹   ENSP00000412953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,192 - 139,677,965 (-)Ensembl
Ensembl Acc Id: ENST00000505779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,634,360 - 139,677,736 (-)Ensembl
Ensembl Acc Id: ENST00000506254   ⟹   ENSP00000423335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,180 - 139,678,017 (-)Ensembl
Ensembl Acc Id: ENST00000507242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,561,087 - 139,583,077 (-)Ensembl
Ensembl Acc Id: ENST00000509034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,634,360 - 139,677,918 (-)Ensembl
Ensembl Acc Id: ENST00000509291   ⟹   ENSP00000427634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,573,633 - 139,677,952 (-)Ensembl
Ensembl Acc Id: ENST00000509447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,561,151 - 139,575,648 (-)Ensembl
Ensembl Acc Id: ENST00000509737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,634,360 - 139,677,828 (-)Ensembl
Ensembl Acc Id: ENST00000511003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,634,360 - 139,678,004 (-)Ensembl
Ensembl Acc Id: ENST00000511444   ⟹   ENSP00000425041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,842 - 139,677,742 (-)Ensembl
Ensembl Acc Id: ENST00000512391   ⟹   ENSP00000426357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,561,333 - 139,678,005 (-)Ensembl
Ensembl Acc Id: ENST00000514703   ⟹   ENSP00000426375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,599,148 - 139,677,718 (-)Ensembl
Ensembl Acc Id: ENST00000642987   ⟹   ENSP00000496136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,216 - 139,677,850 (-)Ensembl
Ensembl Acc Id: ENST00000643695   ⟹   ENSP00000496061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,191 - 139,677,972 (-)Ensembl
Ensembl Acc Id: ENST00000645083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,634,389 - 139,677,972 (-)Ensembl
Ensembl Acc Id: ENST00000645290   ⟹   ENSP00000494285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,223 - 139,678,017 (-)Ensembl
Ensembl Acc Id: ENST00000645507   ⟹   ENSP00000495140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,565,397 - 139,678,005 (-)Ensembl
Ensembl Acc Id: ENST00000646611   ⟹   ENSP00000495112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,216 - 139,678,017 (-)Ensembl
Ensembl Acc Id: ENST00000647257   ⟹   ENSP00000494580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,569,273 - 139,678,017 (-)Ensembl
Ensembl Acc Id: ENST00000704800   ⟹   ENSP00000516041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3139,560,191 - 139,677,972 (-)Ensembl
RefSeq Acc Id: NM_001200047   ⟹   NP_001186976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
GRCh373139,279,022 - 139,396,885 (-)ENTREZGENE
HuRef3136,654,467 - 136,772,328 (-)ENTREZGENE
CHM1_13139,242,474 - 139,360,327 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320510   ⟹   NP_001307439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
CHM1_13139,242,474 - 139,360,327 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320511   ⟹   NP_001307440
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
CHM1_13139,242,474 - 139,360,327 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320512   ⟹   NP_001307441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
CHM1_13139,242,474 - 139,360,327 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320513   ⟹   NP_001307442
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
CHM1_13139,242,474 - 139,360,327 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363968   ⟹   NP_001350897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,180 - 139,678,050 (-)NCBI
T2T-CHM13v2.03142,307,606 - 142,425,486 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001401598   ⟹   NP_001388527
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401599   ⟹   NP_001388528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401600   ⟹   NP_001388529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401601   ⟹   NP_001388530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401602   ⟹   NP_001388531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401603   ⟹   NP_001388532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401604   ⟹   NP_001388533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401605   ⟹   NP_001388534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401606   ⟹   NP_001388535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401607   ⟹   NP_001388536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401608   ⟹   NP_001388537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401609   ⟹   NP_001388538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401610   ⟹   NP_001388539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401611   ⟹   NP_001388540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_001401612   ⟹   NP_001388541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
RefSeq Acc Id: NM_178177   ⟹   NP_835471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
GRCh373139,279,022 - 139,396,885 (-)ENTREZGENE
Build 363140,761,723 - 140,879,530 (-)NCBI Archive
HuRef3136,654,467 - 136,772,328 (-)ENTREZGENE
CHM1_13139,242,474 - 139,360,327 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
Sequence:
RefSeq Acc Id: NR_174944
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383139,560,191 - 139,677,972 (-)NCBI
T2T-CHM13v2.03142,307,617 - 142,425,408 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001186976 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307439 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307442 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350897 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388527 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388528 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388530 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388531 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388532 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388533 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388535 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388536 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388540 (Get FASTA)   NCBI Sequence Viewer  
  NP_001388541 (Get FASTA)   NCBI Sequence Viewer  
  NP_835471 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH34374 (Get FASTA)   NCBI Sequence Viewer  
  AAH36218 (Get FASTA)   NCBI Sequence Viewer  
  AAK52726 (Get FASTA)   NCBI Sequence Viewer  
  BAG53878 (Get FASTA)   NCBI Sequence Viewer  
  BAG54510 (Get FASTA)   NCBI Sequence Viewer  
  EAW79022 (Get FASTA)   NCBI Sequence Viewer  
  EAW79023 (Get FASTA)   NCBI Sequence Viewer  
  EAW79024 (Get FASTA)   NCBI Sequence Viewer  
  EAW79025 (Get FASTA)   NCBI Sequence Viewer  
  EAW79026 (Get FASTA)   NCBI Sequence Viewer  
  EAW79027 (Get FASTA)   NCBI Sequence Viewer  
  EAW79028 (Get FASTA)   NCBI Sequence Viewer  
  EAW79029 (Get FASTA)   NCBI Sequence Viewer  
  EAW79030 (Get FASTA)   NCBI Sequence Viewer  
  EAW79031 (Get FASTA)   NCBI Sequence Viewer  
  EAW79032 (Get FASTA)   NCBI Sequence Viewer  
  EAW79033 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000296202
  ENSP00000296202.6
  ENSP00000340523
  ENSP00000340523.5
  ENSP00000412953
  ENSP00000412953.2
  ENSP00000426357
  ENSP00000494285
  ENSP00000495112
  ENSP00000496061
  ENSP00000496136
  ENSP00000516041
  ENSP00000516041.1
GenBank Protein Q96T66 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_835471   ⟸   NM_178177
- Peptide Label: isoform 1
- UniProtKB: Q96T66 (UniProtKB/Swiss-Prot),   Q49AL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186976   ⟸   NM_001200047
- Peptide Label: isoform 2
- UniProtKB: Q96T66 (UniProtKB/Swiss-Prot),   Q49AL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307441   ⟸   NM_001320512
- Peptide Label: isoform 4
- UniProtKB: D3DNF3 (UniProtKB/Swiss-Prot),   D3DNF2 (UniProtKB/Swiss-Prot),   B3KVR6 (UniProtKB/Swiss-Prot),   Q8N4G1 (UniProtKB/Swiss-Prot),   Q96T66 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307442   ⟸   NM_001320513
- Peptide Label: isoform 5
- UniProtKB: Q49AL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307439   ⟸   NM_001320510
- Peptide Label: isoform 3
- UniProtKB: A0A2R8YFG2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307440   ⟸   NM_001320511
- Peptide Label: isoform 4
- UniProtKB: D3DNF3 (UniProtKB/Swiss-Prot),   D3DNF2 (UniProtKB/Swiss-Prot),   B3KVR6 (UniProtKB/Swiss-Prot),   Q8N4G1 (UniProtKB/Swiss-Prot),   Q96T66 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350897   ⟸   NM_001363968
- Peptide Label: isoform 6
- UniProtKB: A0A2R8Y594 (UniProtKB/TrEMBL),   A0A2R8YEU0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000412953   ⟸   ENST00000413939
Ensembl Acc Id: ENSP00000423335   ⟸   ENST00000506254
Ensembl Acc Id: ENSP00000296202   ⟸   ENST00000296202
Ensembl Acc Id: ENSP00000427634   ⟸   ENST00000509291
Ensembl Acc Id: ENSP00000340523   ⟸   ENST00000339837
Ensembl Acc Id: ENSP00000496136   ⟸   ENST00000642987
Ensembl Acc Id: ENSP00000425041   ⟸   ENST00000511444
Ensembl Acc Id: ENSP00000496061   ⟸   ENST00000643695
Ensembl Acc Id: ENSP00000426357   ⟸   ENST00000512391
Ensembl Acc Id: ENSP00000495140   ⟸   ENST00000645507
Ensembl Acc Id: ENSP00000494285   ⟸   ENST00000645290
Ensembl Acc Id: ENSP00000495112   ⟸   ENST00000646611
Ensembl Acc Id: ENSP00000426375   ⟸   ENST00000514703
Ensembl Acc Id: ENSP00000494580   ⟸   ENST00000647257
RefSeq Acc Id: NP_001388533   ⟸   NM_001401604
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001388532   ⟸   NM_001401603
- Peptide Label: isoform 4
- UniProtKB: Q96T66 (UniProtKB/Swiss-Prot),   D3DNF3 (UniProtKB/Swiss-Prot),   D3DNF2 (UniProtKB/Swiss-Prot),   B3KVR6 (UniProtKB/Swiss-Prot),   Q8N4G1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001388541   ⟸   NM_001401612
- Peptide Label: isoform 8
- UniProtKB: D6RGH7 (UniProtKB/TrEMBL),   D6R975 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388531   ⟸   NM_001401602
- Peptide Label: isoform 4
- UniProtKB: Q96T66 (UniProtKB/Swiss-Prot),   D3DNF3 (UniProtKB/Swiss-Prot),   D3DNF2 (UniProtKB/Swiss-Prot),   B3KVR6 (UniProtKB/Swiss-Prot),   Q8N4G1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001388534   ⟸   NM_001401605
- Peptide Label: isoform 7
- UniProtKB: A0A2R8YGL3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388540   ⟸   NM_001401611
- Peptide Label: isoform 8
- UniProtKB: D6RGH7 (UniProtKB/TrEMBL),   D6R975 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388530   ⟸   NM_001401601
- Peptide Label: isoform 4
- UniProtKB: Q96T66 (UniProtKB/Swiss-Prot),   D3DNF3 (UniProtKB/Swiss-Prot),   D3DNF2 (UniProtKB/Swiss-Prot),   B3KVR6 (UniProtKB/Swiss-Prot),   Q8N4G1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001388536   ⟸   NM_001401607
- Peptide Label: isoform 6
- UniProtKB: A0A2R8Y594 (UniProtKB/TrEMBL),   A0A2R8YEU0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388527   ⟸   NM_001401598
- Peptide Label: isoform 3
- UniProtKB: A0A2R8YFG2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388539   ⟸   NM_001401610
- Peptide Label: isoform 8
- UniProtKB: D6RGH7 (UniProtKB/TrEMBL),   D6R975 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388537   ⟸   NM_001401608
- Peptide Label: isoform 6
- UniProtKB: A0A2R8Y594 (UniProtKB/TrEMBL),   A0A2R8YEU0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388535   ⟸   NM_001401606
- Peptide Label: isoform 7
- UniProtKB: A0A2R8YGL3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388538   ⟸   NM_001401609
- Peptide Label: isoform 8
- UniProtKB: D6RGH7 (UniProtKB/TrEMBL),   D6R975 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001388529   ⟸   NM_001401600
- Peptide Label: isoform 4
- UniProtKB: Q96T66 (UniProtKB/Swiss-Prot),   D3DNF3 (UniProtKB/Swiss-Prot),   D3DNF2 (UniProtKB/Swiss-Prot),   B3KVR6 (UniProtKB/Swiss-Prot),   Q8N4G1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001388528   ⟸   NM_001401599
- Peptide Label: isoform 3
- UniProtKB: A0A2R8YFG2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000516041   ⟸   ENST00000704800
Protein Domains
Cytidyltransferase-like   DTW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96T66-F1-model_v2 AlphaFold Q96T66 1-252 view protein structure

Promoters
RGD ID:6865830
Promoter ID:EPDNEW_H6080
Type:initiation region
Name:NMNAT3_1
Description:nicotinamide nucleotide adenylyltransferase 3
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
GRCh383139,677,972 - 139,678,032EPDNEW
RGD ID:6801353
Promoter ID:HG_KWN:46345
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000406164,   ENST00000406824,   NM_178177,   UC010HUL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363140,879,061 - 140,879,561 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20989 AgrOrtholog
COSMIC NMNAT3 COSMIC
Ensembl Genes ENSG00000163864 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000296202 ENTREZGENE
  ENST00000296202.12 UniProtKB/Swiss-Prot
  ENST00000339837 ENTREZGENE
  ENST00000339837.9 UniProtKB/Swiss-Prot
  ENST00000413939 ENTREZGENE
  ENST00000413939.6 UniProtKB/Swiss-Prot
  ENST00000512391 ENTREZGENE
  ENST00000642987 ENTREZGENE
  ENST00000643695 ENTREZGENE
  ENST00000645290 ENTREZGENE
  ENST00000646611 ENTREZGENE
  ENST00000704800 ENTREZGENE
  ENST00000704800.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.620 UniProtKB/Swiss-Prot
GTEx ENSG00000163864 GTEx
HGNC ID HGNC:20989 ENTREZGENE
Human Proteome Map NMNAT3 Human Proteome Map
InterPro Cyt_trans-like UniProtKB/Swiss-Prot
  Euk_NMN_adenylyltrnsfrase UniProtKB/Swiss-Prot
  NadD/NMNAT UniProtKB/Swiss-Prot
  NMNAT_euk UniProtKB/Swiss-Prot
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot
KEGG Report hsa:349565 UniProtKB/Swiss-Prot
NCBI Gene 349565 ENTREZGENE
OMIM 608702 OMIM
PANTHER NICOTINAMIDE MONONUCLEOTIDE ADENYLYLTRANSFERASE UniProtKB/Swiss-Prot
  NICOTINAMIDE/NICOTINIC ACID MONONUCLEOTIDE ADENYLYLTRANSFERASE 3 UniProtKB/Swiss-Prot
Pfam CTP_transf_like UniProtKB/Swiss-Prot
PharmGKB PA134952303 PharmGKB
Superfamily-SCOP Nucleotidylyl transferase UniProtKB/Swiss-Prot
UniProt A0A2R8Y594 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YE08_HUMAN UniProtKB/TrEMBL
  A0A2R8YEU0 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YFG2 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YGL3 ENTREZGENE, UniProtKB/TrEMBL
  B3KVR6 ENTREZGENE
  D3DNF2 ENTREZGENE
  D3DNF3 ENTREZGENE
  D6R975 ENTREZGENE, UniProtKB/TrEMBL
  D6REC8_HUMAN UniProtKB/TrEMBL
  D6RGG8_HUMAN UniProtKB/TrEMBL
  D6RGH7 ENTREZGENE, UniProtKB/TrEMBL
  D6RHV4_HUMAN UniProtKB/TrEMBL
  NMNA3_HUMAN UniProtKB/Swiss-Prot
  Q49AL4 ENTREZGENE, UniProtKB/TrEMBL
  Q8N4G1 ENTREZGENE
  Q96T66 ENTREZGENE
UniProt Secondary B3KVR6 UniProtKB/Swiss-Prot
  D3DNF2 UniProtKB/Swiss-Prot
  D3DNF3 UniProtKB/Swiss-Prot
  Q8N4G1 UniProtKB/Swiss-Prot