NADSYN1 (NAD synthetase 1) - Rat Genome Database

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Gene: NADSYN1 (NAD synthetase 1) Homo sapiens
Analyze
Symbol: NADSYN1
Name: NAD synthetase 1
RGD ID: 1602697
HGNC Page HGNC:29832
Description: Enables NAD+ synthase (glutamine-hydrolyzing) activity. Involved in 'de novo' NAD biosynthetic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Implicated in high grade glioma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ10631; FLJ36703; FLJ40627; glutamine-dependent NAD synthetase; glutamine-dependent NAD(+) synthetase; NAD(+) synthase; NAD(+) synthetase; VCRL3
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
GRCh381171,453,203 - 71,501,816 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1171,453,109 - 71,524,107 (+)EnsemblGRCh38hg38GRCh38
GRCh371171,164,249 - 71,212,862 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361170,841,865 - 70,890,232 (+)NCBINCBI36Build 36hg18NCBI36
Celera1168,457,742 - 68,506,114 (+)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1167,457,809 - 67,506,195 (+)NCBIHuRef
CHM1_11171,048,194 - 71,096,600 (+)NCBICHM1_1
T2T-CHM13v2.01171,380,158 - 71,428,792 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. An exploratory analysis of common genetic variants in the vitamin D pathway including genome-wide associated variants in relation to glioma risk and outcome. Anic GM, etal., Cancer Causes Control. 2012 Sep;23(9):1443-9. doi: 10.1007/s10552-012-0018-7. Epub 2012 Jun 28.
2. Polymorphisms in GC and NADSYN1 Genes are associated with vitamin D status and metabolic profile in Non-diabetic adults. Foucan L, etal., BMC Endocr Disord. 2013 Sep 29;13:36. doi: 10.1186/1472-6823-13-36.
3. 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.
4. Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children. Kitanaka S, etal., Endocr J. 2012;59(11):1007-14. Epub 2012 Jul 8.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:10737800   PMID:12477932   PMID:12547821   PMID:14702039   PMID:14704851   PMID:15231747   PMID:15489334   PMID:16189514   PMID:16712791   PMID:19724895   PMID:19851296  
PMID:19913121   PMID:20198315   PMID:20418485   PMID:20541252   PMID:20628086   PMID:21873635   PMID:22390397   PMID:23636220   PMID:24642724   PMID:25036637   PMID:25416956   PMID:26149120  
PMID:28065597   PMID:28514442   PMID:28611215   PMID:30021884   PMID:31515488   PMID:31883644   PMID:31911602   PMID:32235678   PMID:32296183   PMID:32513696   PMID:32807901   PMID:32938288  
PMID:33853758   PMID:33961781   PMID:34681008   PMID:35256949   PMID:35491967   PMID:35748872   PMID:35831314   PMID:36215168   PMID:36951206   PMID:37499065   PMID:38357931  


Genomics

Comparative Map Data
NADSYN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381171,453,203 - 71,501,816 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1171,453,109 - 71,524,107 (+)EnsemblGRCh38hg38GRCh38
GRCh371171,164,249 - 71,212,862 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361170,841,865 - 70,890,232 (+)NCBINCBI36Build 36hg18NCBI36
Celera1168,457,742 - 68,506,114 (+)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1167,457,809 - 67,506,195 (+)NCBIHuRef
CHM1_11171,048,194 - 71,096,600 (+)NCBICHM1_1
T2T-CHM13v2.01171,380,158 - 71,428,792 (+)NCBIT2T-CHM13v2.0
Nadsyn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397143,349,326 - 143,376,598 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7143,349,321 - 143,376,586 (-)EnsemblGRCm39 Ensembl
GRCm387143,795,589 - 143,822,862 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7143,795,584 - 143,822,849 (-)EnsemblGRCm38mm10GRCm38
MGSCv377150,981,499 - 151,008,746 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367143,604,984 - 143,632,231 (-)NCBIMGSCv36mm8
Celera7143,551,948 - 143,579,416 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map788.32NCBI
Nadsyn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81208,410,914 - 208,439,242 (-)NCBIGRCr8
mRatBN7.21198,981,559 - 199,009,853 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1198,981,604 - 199,009,869 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1207,361,638 - 207,389,345 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01214,443,560 - 214,471,187 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01207,117,728 - 207,145,356 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01216,985,710 - 217,013,743 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1216,985,714 - 217,013,702 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01223,722,251 - 223,869,610 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41204,187,585 - 204,237,424 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11204,341,037 - 204,390,877 (-)NCBI
Celera1196,545,283 - 196,572,552 (-)NCBICelera
Cytogenetic Map1q42NCBI
Nadsyn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542215,066,708 - 15,114,049 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542215,067,711 - 15,113,942 (-)NCBIChiLan1.0ChiLan1.0
NADSYN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2972,339,234 - 72,432,547 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11173,376,859 - 73,450,206 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01166,464,320 - 66,537,649 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11169,735,871 - 69,793,226 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1169,735,871 - 69,788,953 (+)Ensemblpanpan1.1panPan2
NADSYN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11847,216,547 - 47,254,582 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1847,216,577 - 47,254,514 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1845,824,631 - 45,862,252 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01847,897,151 - 47,934,979 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1847,897,155 - 47,934,998 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11847,338,020 - 47,375,995 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01846,924,178 - 46,961,816 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01847,670,678 - 47,708,646 (-)NCBIUU_Cfam_GSD_1.0
Nadsyn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049473,451,773 - 3,480,634 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367941,396,703 - 1,423,709 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367941,394,975 - 1,423,807 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NADSYN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl22,334,799 - 2,372,361 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.122,334,793 - 2,372,356 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22725,955 - 739,214 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NADSYN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.113,189,054 - 3,243,087 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl13,188,348 - 3,238,435 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038100,374,580 - 100,430,183 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nadsyn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476716,069,780 - 16,115,162 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476716,069,895 - 16,115,029 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NADSYN1
98 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 copy number gain See cases [RCV000051910] Chr11:71164008..72309374 [GRCh38]
Chr11:71088949..72020418 [GRCh37]
Chr11:70552702..71698066 [NCBI36]
Chr11:11q13.4
uncertain significance
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1 copy number loss See cases [RCV000142138] Chr11:68031693..71593495 [GRCh38]
Chr11:67799160..71304541 [GRCh37]
Chr11:67555736..70982189 [NCBI36]
Chr11:11q13.2-13.4
likely pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_018161.5(NADSYN1):c.1644G>C (p.Arg548Ser) single nucleotide variant Inborn genetic diseases [RCV003262303] Chr11:71490926 [GRCh38]
Chr11:71201972 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1280C>T (p.Thr427Met) single nucleotide variant Inborn genetic diseases [RCV003248152] Chr11:71482978 [GRCh38]
Chr11:71194024 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.2021T>C (p.Phe674Ser) single nucleotide variant Inborn genetic diseases [RCV003277109] Chr11:71498479 [GRCh38]
Chr11:71209525 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.4(chr11:71118826-71279571)x3 copy number gain not provided [RCV000750109] Chr11:71118826..71279571 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.924G>C (p.Ser308=) single nucleotide variant not provided [RCV000969608] Chr11:71480805 [GRCh38]
Chr11:71191851 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV002501390]|not provided [RCV000881914] Chr11:71482013 [GRCh38]
Chr11:71193059 [GRCh37]
Chr11:11q13.4
benign|likely benign
NM_018161.5(NADSYN1):c.1341C>T (p.Ile447=) single nucleotide variant not provided [RCV000959987] Chr11:71484333 [GRCh38]
Chr11:71195379 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.1894-10C>T single nucleotide variant not provided [RCV000959988] Chr11:71498342 [GRCh38]
Chr11:71209388 [GRCh37]
Chr11:11q13.4
benign
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) single nucleotide variant Inborn genetic diseases [RCV002314649]|Smith-Lemli-Opitz syndrome [RCV000297594]|not provided [RCV000178841]|not specified [RCV003488428] Chr11:71442299 [GRCh38]
Chr11:71153345 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1887G>A (p.Pro629=) single nucleotide variant not provided [RCV000962197] Chr11:71497605 [GRCh38]
Chr11:71208651 [GRCh37]
Chr11:11q13.4
benign
GRCh37/hg19 11q13.4(chr11:71158840-71210308)x3 copy number gain not provided [RCV000849693] Chr11:71158840..71210308 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1166C>T (p.Ala389Val) single nucleotide variant Inborn genetic diseases [RCV003273815] Chr11:71482864 [GRCh38]
Chr11:71193910 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779284]|not provided [RCV001652036] Chr11:71458501 [GRCh38]
Chr11:71169547 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.1860C>T (p.Leu620=) single nucleotide variant not provided [RCV000909727] Chr11:71497578 [GRCh38]
Chr11:71208624 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.1773G>A (p.Met591Ile) single nucleotide variant not provided [RCV000910289] Chr11:71497491 [GRCh38]
Chr11:71208537 [GRCh37]
Chr11:11q13.4
benign
NM_001360.3(DHCR7):c.99-4G>A single nucleotide variant Inborn genetic diseases [RCV002311598]|Smith-Lemli-Opitz syndrome [RCV000538327]|not provided [RCV000428279]|not specified [RCV000079662] Chr11:71444219 [GRCh38]
Chr11:71155265 [GRCh37]
Chr11:11q13.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_018161.5(NADSYN1):c.744T>C (p.Ile248=) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779307]|not provided [RCV001677737] Chr11:71474472 [GRCh38]
Chr11:71185518 [GRCh37]
Chr11:11q13.4
benign
GRCh37/hg19 11q13.4(chr11:71051703-71655505)x3 copy number gain not provided [RCV002472868] Chr11:71051703..71655505 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) single nucleotide variant Congenital NAD deficiency disorder [RCV001078184]|NADSYN1-related disorder [RCV003963002]|Neurodevelopmental delay [RCV002274118]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035449]|not provided [RCV001532179] Chr11:71491856 [GRCh38]
Chr11:71202902 [GRCh37]
Chr11:11q13.4
pathogenic|likely pathogenic
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) single nucleotide variant Congenital NAD deficiency disorder [RCV001078186]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003758992] Chr11:71455169 [GRCh38]
Chr11:71166215 [GRCh37]
Chr11:11q13.4
pathogenic
NM_018161.5(NADSYN1):c.86-2A>C single nucleotide variant not provided [RCV001532178] Chr11:71455108 [GRCh38]
Chr11:71166154 [GRCh37]
Chr11:11q13.4
pathogenic
NM_018161.5(NADSYN1):c.705T>C (p.Cys235=) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779266]|not provided [RCV001612019] Chr11:71474433 [GRCh38]
Chr11:71185479 [GRCh37]
Chr11:11q13.4
benign
NC_000011.9:g.(?_71146401)_(71907241_?)dup duplication Cerebral folate transport deficiency [RCV001031374] Chr11:71146401..71907241 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) deletion Congenital NAD deficiency disorder [RCV001078185]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035450] Chr11:71497536 [GRCh38]
Chr11:71208582 [GRCh37]
Chr11:11q13.4
pathogenic
NM_018161.5(NADSYN1):c.395G>T (p.Trp132Leu) single nucleotide variant Congenital NAD deficiency disorder [RCV001078187]|NADSYN1-related disorder [RCV003405294]|not provided [RCV004590090] Chr11:71464130 [GRCh38]
Chr11:71175176 [GRCh37]
Chr11:11q13.4
pathogenic|uncertain significance
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) single nucleotide variant Congenital NAD deficiency disorder [RCV001078189]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035452] Chr11:71474463 [GRCh38]
Chr11:71185509 [GRCh37]
Chr11:11q13.4
pathogenic
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) single nucleotide variant Congenital NAD deficiency disorder [RCV001078188]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001035454] Chr11:71497557 [GRCh38]
Chr11:71208603 [GRCh37]
Chr11:11q13.4
pathogenic
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001293858] Chr11:71485545 [GRCh38]
Chr11:71196591 [GRCh37]
Chr11:11q13.4
pathogenic|likely pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_018161.5(NADSYN1):c.799-5T>C single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779933]|not provided [RCV004707709] Chr11:71478390 [GRCh38]
Chr11:71189436 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.775T>A (p.Ser259Thr) single nucleotide variant not provided [RCV001765631] Chr11:71474503 [GRCh38]
Chr11:71185549 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.408-21C>T single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779930]|not provided [RCV004707707] Chr11:71472428 [GRCh38]
Chr11:71183474 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.612A>C (p.Gln204His) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779932]|not provided [RCV004709140] Chr11:71473632 [GRCh38]
Chr11:71184678 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.253G>A (p.Asp85Asn) single nucleotide variant not provided [RCV001765743] Chr11:71458534 [GRCh38]
Chr11:71169580 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.408-18C>T single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779931]|not provided [RCV004707708] Chr11:71472431 [GRCh38]
Chr11:71183477 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.264-26A>G single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779928]|not provided [RCV004707706] Chr11:71463406 [GRCh38]
Chr11:71174452 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.317+22C>T single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV001779929]|not provided [RCV004709139] Chr11:71463507 [GRCh38]
Chr11:71174553 [GRCh37]
Chr11:11q13.4
benign
NM_018161.5(NADSYN1):c.271del (p.Met91fs) deletion Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759067]|not provided [RCV001756822] Chr11:71463438 [GRCh38]
Chr11:71174484 [GRCh37]
Chr11:11q13.4
likely pathogenic|uncertain significance
NC_000011.9:g.(?_71146421)_(75283128_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122786] Chr11:71146421..75283128 [GRCh37]
Chr11:11q13.4-13.5
uncertain significance
NM_018161.5(NADSYN1):c.1765-7T>A single nucleotide variant NADSYN1-related disorder [RCV003966280]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003148538] Chr11:71497476 [GRCh38]
Chr11:71208522 [GRCh37]
Chr11:11q13.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV002273165] Chr11:71473342 [GRCh38]
Chr11:71184388 [GRCh37]
Chr11:11q13.4
pathogenic|likely pathogenic
NM_018161.5(NADSYN1):c.1861G>A (p.Gly621Ser) single nucleotide variant not provided [RCV002274645] Chr11:71497579 [GRCh38]
Chr11:71208625 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.384G>T (p.Trp128Cys) single nucleotide variant Inborn genetic diseases [RCV002684997] Chr11:71464119 [GRCh38]
Chr11:71175165 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.508A>C (p.Ile170Leu) single nucleotide variant Inborn genetic diseases [RCV002969715] Chr11:71473326 [GRCh38]
Chr11:71184372 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1802A>G (p.Tyr601Cys) single nucleotide variant Inborn genetic diseases [RCV002841255] Chr11:71497520 [GRCh38]
Chr11:71208566 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1112C>G (p.Ser371Cys) single nucleotide variant Inborn genetic diseases [RCV002776952] Chr11:71481987 [GRCh38]
Chr11:71193033 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1197C>G (p.Ser399Arg) single nucleotide variant Inborn genetic diseases [RCV002734487] Chr11:71482895 [GRCh38]
Chr11:71193941 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.551C>T (p.Pro184Leu) single nucleotide variant Inborn genetic diseases [RCV002749385] Chr11:71473571 [GRCh38]
Chr11:71184617 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1288C>T (p.Arg430Trp) single nucleotide variant Inborn genetic diseases [RCV002684918] Chr11:71482986 [GRCh38]
Chr11:71194032 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.2072T>G (p.Val691Gly) single nucleotide variant Inborn genetic diseases [RCV002686713] Chr11:71501303 [GRCh38]
Chr11:71212349 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.370C>T (p.Arg124Cys) single nucleotide variant Inborn genetic diseases [RCV002778494] Chr11:71464105 [GRCh38]
Chr11:71175151 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.346G>T (p.Ala116Ser) single nucleotide variant Inborn genetic diseases [RCV002762389] Chr11:71464081 [GRCh38]
Chr11:71175127 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1967C>T (p.Ala656Val) single nucleotide variant Inborn genetic diseases [RCV002704744] Chr11:71498425 [GRCh38]
Chr11:71209471 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.343A>G (p.Met115Val) single nucleotide variant Inborn genetic diseases [RCV002661555] Chr11:71464078 [GRCh38]
Chr11:71175124 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.562A>G (p.Met188Val) single nucleotide variant Inborn genetic diseases [RCV002784279] Chr11:71473582 [GRCh38]
Chr11:71184628 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.254A>G (p.Asp85Gly) single nucleotide variant Inborn genetic diseases [RCV002910777] Chr11:71458535 [GRCh38]
Chr11:71169581 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1879T>C (p.Cys627Arg) single nucleotide variant Inborn genetic diseases [RCV002854593] Chr11:71497597 [GRCh38]
Chr11:71208643 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.2116G>T (p.Asp706Tyr) single nucleotide variant Inborn genetic diseases [RCV002826426] Chr11:71501347 [GRCh38]
Chr11:71212393 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1439C>T (p.Ala480Val) single nucleotide variant Inborn genetic diseases [RCV002853527] Chr11:71484431 [GRCh38]
Chr11:71195477 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1822G>A (p.Ala608Thr) single nucleotide variant Inborn genetic diseases [RCV002699218] Chr11:71497540 [GRCh38]
Chr11:71208586 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1741G>A (p.Gly581Arg) single nucleotide variant Inborn genetic diseases [RCV002891843] Chr11:71491880 [GRCh38]
Chr11:71202926 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys) single nucleotide variant Inborn genetic diseases [RCV002960495]|Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759771] Chr11:71464114 [GRCh38]
Chr11:71175160 [GRCh37]
Chr11:11q13.4
likely pathogenic|uncertain significance
NM_018161.5(NADSYN1):c.1651G>A (p.Val551Ile) single nucleotide variant Inborn genetic diseases [RCV002960455] Chr11:71490933 [GRCh38]
Chr11:71201979 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1371C>G (p.Ile457Met) single nucleotide variant Inborn genetic diseases [RCV002920490] Chr11:71484363 [GRCh38]
Chr11:71195409 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.629A>C (p.Asn210Thr) single nucleotide variant Inborn genetic diseases [RCV002648460] Chr11:71473649 [GRCh38]
Chr11:71184695 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1897G>A (p.Ala633Thr) single nucleotide variant Inborn genetic diseases [RCV002724641] Chr11:71498355 [GRCh38]
Chr11:71209401 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.799-2A>G single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 1 [RCV003152663] Chr11:71478393 [GRCh38]
Chr11:71189439 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1796C>T (p.Ser599Leu) single nucleotide variant Inborn genetic diseases [RCV002722337] Chr11:71497514 [GRCh38]
Chr11:71208560 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1621G>A (p.Gly541Arg) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003131679]|not provided [RCV003443171] Chr11:71490903 [GRCh38]
Chr11:71201949 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.636G>C (p.Arg212Ser) single nucleotide variant not provided [RCV003227157] Chr11:71473656 [GRCh38]
Chr11:71184702 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.620G>A (p.Arg207His) single nucleotide variant Inborn genetic diseases [RCV003205718] Chr11:71473640 [GRCh38]
Chr11:71184686 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.653T>C (p.Met218Thr) single nucleotide variant Inborn genetic diseases [RCV003211248] Chr11:71473673 [GRCh38]
Chr11:71184719 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.-690G>A single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003132823] Chr11:71452607 [GRCh38]
Chr11:71163653 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.835C>T (p.Arg279Trp) single nucleotide variant not provided [RCV003227390] Chr11:71478431 [GRCh38]
Chr11:71189477 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1189C>T (p.Gln397Ter) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003132822] Chr11:71482887 [GRCh38]
Chr11:71193933 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.652A>G (p.Met218Val) single nucleotide variant Inborn genetic diseases [RCV003302541] Chr11:71473672 [GRCh38]
Chr11:71184718 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1132G>A (p.Glu378Lys) single nucleotide variant Inborn genetic diseases [RCV003309359] Chr11:71482007 [GRCh38]
Chr11:71193053 [GRCh37]
Chr11:11q13.4
likely benign
NM_018161.5(NADSYN1):c.1216C>G (p.Arg406Gly) single nucleotide variant Inborn genetic diseases [RCV003357415] Chr11:71482914 [GRCh38]
Chr11:71193960 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1477G>A (p.Ala493Thr) single nucleotide variant Inborn genetic diseases [RCV003349743] Chr11:71485563 [GRCh38]
Chr11:71196609 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5
pathogenic
NM_018161.5(NADSYN1):c.924G>A (p.Ser308=) single nucleotide variant not provided [RCV003409335] Chr11:71480805 [GRCh38]
Chr11:71191851 [GRCh37]
Chr11:11q13.4
likely benign
NM_018161.5(NADSYN1):c.2070+2T>C single nucleotide variant NADSYN1-related disorder [RCV003402310] Chr11:71498530 [GRCh38]
Chr11:71209576 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759816] Chr11:71481963 [GRCh38]
Chr11:71193009 [GRCh37]
Chr11:11q13.4
likely pathogenic
NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003759815] Chr11:71491898 [GRCh38]
Chr11:71202944 [GRCh37]
Chr11:11q13.4
likely pathogenic
NM_018161.5(NADSYN1):c.1787C>T (p.Ala596Val) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003493090] Chr11:71497505 [GRCh38]
Chr11:71208551 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1247G>T (p.Cys416Phe) single nucleotide variant Vertebral, cardiac, renal, and limb defects syndrome 3 [RCV003993523] Chr11:71482945 [GRCh38]
Chr11:71193991 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.2054G>A (p.Arg685Gln) single nucleotide variant NADSYN1-related disorder [RCV003956759] Chr11:71498512 [GRCh38]
Chr11:71209558 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.393G>A (p.Pro131=) single nucleotide variant not provided [RCV003885887] Chr11:71464128 [GRCh38]
Chr11:71175174 [GRCh37]
Chr11:11q13.4
likely benign
NM_018161.5(NADSYN1):c.1360G>A (p.Val454Ile) single nucleotide variant NADSYN1-related disorder [RCV003934120] Chr11:71484352 [GRCh38]
Chr11:71195398 [GRCh37]
Chr11:11q13.4
likely benign
NM_018161.5(NADSYN1):c.669C>T (p.Asn223=) single nucleotide variant NADSYN1-related disorder [RCV003959724] Chr11:71474397 [GRCh38]
Chr11:71185443 [GRCh37]
Chr11:11q13.4
likely benign
NM_018161.5(NADSYN1):c.1695-7G>T single nucleotide variant NADSYN1-related disorder [RCV003971995] Chr11:71491827 [GRCh38]
Chr11:71202873 [GRCh37]
Chr11:11q13.4
likely benign
NM_018161.5(NADSYN1):c.1102C>T (p.Leu368Phe) single nucleotide variant Inborn genetic diseases [RCV004466127] Chr11:71481977 [GRCh38]
Chr11:71193023 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1309C>G (p.Gln437Glu) single nucleotide variant Inborn genetic diseases [RCV004466160] Chr11:71483007 [GRCh38]
Chr11:71194053 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1966G>A (p.Ala656Thr) single nucleotide variant Inborn genetic diseases [RCV004466203] Chr11:71498424 [GRCh38]
Chr11:71209470 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.872C>T (p.Ala291Val) single nucleotide variant Inborn genetic diseases [RCV004466274] Chr11:71478468 [GRCh38]
Chr11:71189514 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1022G>C (p.Trp341Ser) single nucleotide variant Inborn genetic diseases [RCV004466121] Chr11:71481379 [GRCh38]
Chr11:71192425 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1550A>G (p.Asn517Ser) single nucleotide variant Inborn genetic diseases [RCV004466169] Chr11:71485636 [GRCh38]
Chr11:71196682 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.760G>A (p.Val254Ile) single nucleotide variant Inborn genetic diseases [RCV004466264] Chr11:71474488 [GRCh38]
Chr11:71185534 [GRCh37]
Chr11:11q13.4
likely benign
NM_018161.5(NADSYN1):c.1012T>C (p.Cys338Arg) single nucleotide variant Inborn genetic diseases [RCV004466117] Chr11:71481369 [GRCh38]
Chr11:71192415 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1207C>A (p.Gln403Lys) single nucleotide variant Inborn genetic diseases [RCV004466141] Chr11:71482905 [GRCh38]
Chr11:71193951 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.197C>T (p.Ser66Leu) single nucleotide variant Inborn genetic diseases [RCV004466210] Chr11:71458478 [GRCh38]
Chr11:71169524 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.82A>G (p.Lys28Glu) single nucleotide variant Inborn genetic diseases [RCV004466269] Chr11:71453378 [GRCh38]
Chr11:71164424 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.796G>A (p.Val266Met) single nucleotide variant Inborn genetic diseases [RCV004641153] Chr11:71474524 [GRCh38]
Chr11:71185570 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1320C>A (p.Ser440Arg) single nucleotide variant Inborn genetic diseases [RCV004652250] Chr11:71484312 [GRCh38]
Chr11:71195358 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.1087G>T (p.Ala363Ser) single nucleotide variant Inborn genetic diseases [RCV004652251] Chr11:71481962 [GRCh38]
Chr11:71193008 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.741G>A (p.Met247Ile) single nucleotide variant Inborn genetic diseases [RCV004652252] Chr11:71474469 [GRCh38]
Chr11:71185515 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.101A>G (p.Lys34Arg) single nucleotide variant Inborn genetic diseases [RCV004652253] Chr11:71455125 [GRCh38]
Chr11:71166171 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_018161.5(NADSYN1):c.470C>A (p.Pro157His) single nucleotide variant Inborn genetic diseases [RCV004652254] Chr11:71473288 [GRCh38]
Chr11:71184334 [GRCh37]
Chr11:11q13.4
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7209
Count of miRNA genes:1340
Interacting mature miRNAs:1787
Transcripts:ENST00000319023, ENST00000524450, ENST00000524949, ENST00000525200, ENST00000525245, ENST00000525593, ENST00000526039, ENST00000527227, ENST00000527538, ENST00000527852, ENST00000527963, ENST00000528211, ENST00000528509, ENST00000529120, ENST00000529840, ENST00000530055, ENST00000530534, ENST00000530831, ENST00000531236, ENST00000533612, ENST00000533769, ENST00000534634, ENST00000539574
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407025283GWAS674259_Hvitamin D measurement QTL GWAS674259 (human)3e-09vitamin D measurement117148351371483514Human
407096194GWAS745170_Hvitamin D measurement QTL GWAS745170 (human)1e-16vitamin D measurement117145995771459958Human
407336262GWAS985238_Hvitamin D measurement QTL GWAS985238 (human)3e-26vitamin D measurement117149890771498908Human
407098272GWAS747248_Hvitamin D measurement QTL GWAS747248 (human)4e-62vitamin D measurement117145640371456404Human
407065124GWAS714100_Hvitamin D measurement QTL GWAS714100 (human)1e-28vitamin D measurement117147113971471140Human
407247183GWAS896159_Hvitamin D deficiency QTL GWAS896159 (human)9e-143vitamin D deficiency117145702771457028Human
406976043GWAS625019_Hsystemic lupus erythematosus QTL GWAS625019 (human)1e-20systemic lupus erythematosus117147663371476634Human
407026574GWAS675550_Hvitamin D deficiency QTL GWAS675550 (human)2e-27vitamin D deficiency117145640371456404Human
407064815GWAS713791_Hvitamin D measurement QTL GWAS713791 (human)5e-228vitamin D measurement117147113971471140Human
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
407027955GWAS676931_Hvitamin D measurement, COVID-19 QTL GWAS676931 (human)3e-17vitamin D measurement, COVID-19117150060871500609Human
407098064GWAS747040_Hvitamin D measurement, vitamin D dietary intake measurement QTL GWAS747040 (human)2e-31vitamin D measurement, vitamin D dietary intake measurement117147624871476249Human
407085079GWAS734055_Hvitamin D measurement QTL GWAS734055 (human)1e-40vitamin D measurement117146220871462209Human
407062970GWAS711946_Hvitamin D measurement QTL GWAS711946 (human)1e-300vitamin D measurement117149902471499025Human
407062969GWAS711945_Hvitamin D measurement QTL GWAS711945 (human)4e-84vitamin D measurement117145529171455292Human
407268092GWAS917068_Hvitamin D deficiency QTL GWAS917068 (human)0.000001vitamin D deficiency117145489871454901Human
407158047GWAS807023_HAPOE carrier status, dementia QTL GWAS807023 (human)0.000005APOE carrier status, dementia117147113971471140Human
407065757GWAS714733_Hvitamin D measurement QTL GWAS714733 (human)2e-144vitamin D measurement117147113971471140Human
407009085GWAS658061_Hprimary biliary cirrhosis QTL GWAS658061 (human)0.000005primary biliary cirrhosis117149048171490482Human
407096188GWAS745164_Hvitamin D measurement QTL GWAS745164 (human)5e-16vitamin D measurement117145899771458998Human

Markers in Region
RH71154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,212,436 - 71,212,565UniSTSGRCh37
Build 361170,890,084 - 70,890,213RGDNCBI36
Celera1168,505,966 - 68,506,095RGD
Cytogenetic Map11q13.4UniSTS
HuRef1167,506,047 - 67,506,176UniSTS
GeneMap99-GB4 RH Map11259.92UniSTS
NCBI RH Map11589.5UniSTS
SHGC-83836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371171,183,152 - 71,183,425UniSTSGRCh37
Build 361170,860,800 - 70,861,073RGDNCBI36
Celera1168,476,680 - 68,476,953RGD
Cytogenetic Map11q13.4UniSTS
HuRef1167,476,750 - 67,477,023UniSTS
TNG Radiation Hybrid Map1132066.0UniSTS


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 NM_018161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB091316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW804480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE730392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI460954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM554316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB141878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000319023   ⟹   ENSP00000326424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,203 - 71,501,816 (+)Ensembl
Ensembl Acc Id: ENST00000524450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,482,723 - 71,484,392 (+)Ensembl
Ensembl Acc Id: ENST00000524949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,231 - 71,464,508 (+)Ensembl
Ensembl Acc Id: ENST00000525200   ⟹   ENSP00000432129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,455,125 - 71,501,541 (+)Ensembl
Ensembl Acc Id: ENST00000525245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,356 - 71,460,947 (+)Ensembl
Ensembl Acc Id: ENST00000525593   ⟹   ENSP00000433612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,497,505 - 71,505,872 (+)Ensembl
Ensembl Acc Id: ENST00000526039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,480,149 - 71,490,876 (+)Ensembl
Ensembl Acc Id: ENST00000527227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,480,152 - 71,481,430 (+)Ensembl
Ensembl Acc Id: ENST00000527538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,241 - 71,460,075 (+)Ensembl
Ensembl Acc Id: ENST00000527852   ⟹   ENSP00000431515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,474,395 - 71,482,986 (+)Ensembl
Ensembl Acc Id: ENST00000527963   ⟹   ENSP00000435570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,498,402 - 71,524,107 (+)Ensembl
Ensembl Acc Id: ENST00000528211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,503,545 - 71,504,478 (+)Ensembl
Ensembl Acc Id: ENST00000528509   ⟹   ENSP00000433472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,217 - 71,477,225 (+)Ensembl
Ensembl Acc Id: ENST00000529120   ⟹   ENSP00000437220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,211 - 71,473,294 (+)Ensembl
Ensembl Acc Id: ENST00000529840   ⟹   ENSP00000437172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,478,395 - 71,485,648 (+)Ensembl
Ensembl Acc Id: ENST00000530055   ⟹   ENSP00000431820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,479,294 - 71,501,539 (+)Ensembl
Ensembl Acc Id: ENST00000530534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,473,663 - 71,479,082 (+)Ensembl
Ensembl Acc Id: ENST00000530831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,496,435 - 71,500,035 (+)Ensembl
Ensembl Acc Id: ENST00000531236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,480,811 - 71,498,728 (+)Ensembl
Ensembl Acc Id: ENST00000533612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,209 - 71,455,460 (+)Ensembl
Ensembl Acc Id: ENST00000533769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,231 - 71,472,491 (+)Ensembl
Ensembl Acc Id: ENST00000534634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,453,109 - 71,459,056 (+)Ensembl
Ensembl Acc Id: ENST00000624637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1171,503,864 - 71,505,874 (+)Ensembl
RefSeq Acc Id: NM_018161   ⟹   NP_060631
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381171,453,203 - 71,501,816 (+)NCBI
GRCh371171,164,217 - 71,212,586 (+)NCBI
Build 361170,841,865 - 70,890,232 (+)NCBI Archive
Celera1168,457,742 - 68,506,114 (+)RGD
HuRef1167,457,809 - 67,506,195 (+)ENTREZGENE
CHM1_11171,048,194 - 71,096,600 (+)NCBI
T2T-CHM13v2.01171,380,158 - 71,428,792 (+)NCBI
Sequence:
RefSeq Acc Id: NP_060631   ⟸   NM_018161
- UniProtKB: Q9HA25 (UniProtKB/Swiss-Prot),   Q86SN2 (UniProtKB/Swiss-Prot),   B3KUU4 (UniProtKB/Swiss-Prot),   Q9NVM8 (UniProtKB/Swiss-Prot),   Q6IA69 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000431820   ⟸   ENST00000530055
Ensembl Acc Id: ENSP00000432129   ⟸   ENST00000525200
Ensembl Acc Id: ENSP00000433612   ⟸   ENST00000525593
Ensembl Acc Id: ENSP00000435570   ⟸   ENST00000527963
Ensembl Acc Id: ENSP00000431515   ⟸   ENST00000527852
Ensembl Acc Id: ENSP00000433472   ⟸   ENST00000528509
Ensembl Acc Id: ENSP00000437172   ⟸   ENST00000529840
Ensembl Acc Id: ENSP00000437220   ⟸   ENST00000529120
Ensembl Acc Id: ENSP00000326424   ⟸   ENST00000319023
Protein Domains
CN hydrolase   NAD/GMP synthase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6IA69-F1-model_v2 AlphaFold Q6IA69 1-706 view protein structure

Promoters
RGD ID:6789146
Promoter ID:HG_KWN:13588
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018161,   UC001OQM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361170,841,086 - 70,842,037 (+)MPROMDB
RGD ID:7221389
Promoter ID:EPDNEW_H16440
Type:initiation region
Name:NADSYN1_2
Description:NAD synthetase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16441  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381171,448,577 - 71,448,637EPDNEW
RGD ID:7221391
Promoter ID:EPDNEW_H16441
Type:initiation region
Name:NADSYN1_1
Description:NAD synthetase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16440  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381171,453,231 - 71,453,291EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29832 AgrOrtholog
COSMIC NADSYN1 COSMIC
Ensembl Genes ENSG00000172890 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000319023 ENTREZGENE
  ENST00000319023.7 UniProtKB/Swiss-Prot
  ENST00000525200.5 UniProtKB/TrEMBL
  ENST00000525593.5 UniProtKB/TrEMBL
  ENST00000527852.6 UniProtKB/TrEMBL
  ENST00000527963.1 UniProtKB/TrEMBL
  ENST00000528509.5 UniProtKB/TrEMBL
  ENST00000529120.5 UniProtKB/TrEMBL
  ENST00000529840.5 UniProtKB/TrEMBL
  ENST00000530055.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.60.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172890 GTEx
HGNC ID HGNC:29832 ENTREZGENE
Human Proteome Map NADSYN1 Human Proteome Map
InterPro C-N_Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C-N_Hydrolase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gln-dep_NAD_synthase UniProtKB/Swiss-Prot
  NAD/GMP_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55191 UniProtKB/Swiss-Prot
NCBI Gene 55191 ENTREZGENE
OMIM 608285 OMIM
PANTHER GLUTAMINE-DEPENDENT NAD(+) SYNTHETASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23090 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CN_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671299 PharmGKB
PIRSF NADS_GAT UniProtKB/Swiss-Prot
PROSITE CN_HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Adenine nucleotide alpha hydrolases-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J216_HUMAN UniProtKB/TrEMBL
  B3KUU4 ENTREZGENE
  E9PKY6_HUMAN UniProtKB/TrEMBL
  E9PND0_HUMAN UniProtKB/TrEMBL
  E9PNF5_HUMAN UniProtKB/TrEMBL
  H0YCF9_HUMAN UniProtKB/TrEMBL
  H0YCQ6_HUMAN UniProtKB/TrEMBL
  H0YDH3_HUMAN UniProtKB/TrEMBL
  H0YED2_HUMAN UniProtKB/TrEMBL
  NADE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86SN2 ENTREZGENE
  Q9HA25 ENTREZGENE
  Q9NVM8 ENTREZGENE
UniProt Secondary B3KUU4 UniProtKB/Swiss-Prot
  Q86SN2 UniProtKB/Swiss-Prot
  Q9HA25 UniProtKB/Swiss-Prot
  Q9NVM8 UniProtKB/Swiss-Prot