NTAQ1 (N-terminal glutamine amidase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NTAQ1 (N-terminal glutamine amidase 1) Homo sapiens
Analyze
Symbol: NTAQ1
Name: N-terminal glutamine amidase 1
RGD ID: 1602877
HGNC Page HGNC
Description: Predicted to have protein-N-terminal glutamine amidohydrolase activity. Predicted to be involved in cellular protein modification process. Predicted to localize to cytosol and nucleus; INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine; arsenous acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8orf32; FLJ10204; N-terminal Gln amidase; nt(Q)-amidase; protein N-terminal glutamine amidohydrolase; protein NH2-terminal glutamine deamidase; WDYHV motif containing 1; WDYHV motif-containing protein 1; WDYHV1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,416,726 - 123,470,028 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,416,701 - 123,467,527 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,428,965 - 124,460,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,498,146 - 124,523,441 (+)NCBINCBI36hg18NCBI36
Celera8120,616,625 - 120,641,908 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,754,623 - 119,779,824 (+)NCBIHuRef
CHM1_18124,469,396 - 124,500,719 (+)NCBICHM1_1
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

Biological Process

Cellular Component
cytosol  (IBA,ISS)
nucleus  (IBA,ISS)

References

Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:16189514   PMID:16344560   PMID:16713569   PMID:17207965   PMID:19060904   PMID:19560421   PMID:21516116   PMID:21873635   PMID:22810586  
PMID:24623722   PMID:25356641   PMID:25416956   PMID:27107012   PMID:27107014   PMID:28514442   PMID:28986522   PMID:29892012   PMID:29987050   PMID:31515488   PMID:31753913   PMID:32296183  
PMID:32366662  


Genomics

Comparative Map Data
NTAQ1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,416,726 - 123,470,028 (+)EnsemblGRCh38hg38GRCh38
GRCh388123,416,701 - 123,467,527 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,428,965 - 124,460,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,498,146 - 124,523,441 (+)NCBINCBI36hg18NCBI36
Celera8120,616,625 - 120,641,908 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,754,623 - 119,779,824 (+)NCBIHuRef
CHM1_18124,469,396 - 124,500,719 (+)NCBICHM1_1
Wdyhv1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,004,730 - 58,022,050 (+)NCBIGRCm39mm39
GRCm39 Ensembl1558,004,773 - 58,022,061 (+)Ensembl
GRCm381558,141,335 - 58,158,654 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,141,377 - 58,158,665 (+)EnsemblGRCm38mm10GRCm38
MGSCv371557,972,991 - 57,990,209 (+)NCBIGRCm37mm9NCBIm37
MGSCv361557,971,519 - 57,988,737 (+)NCBImm8
Celera1559,661,422 - 59,678,640 (+)NCBICelera
Cytogenetic Map15D1NCBI
Ntaq1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2789,684,318 - 89,704,484 (+)NCBI
Rnor_6.0 Ensembl797,957,003 - 97,994,586 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0797,957,022 - 97,977,158 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0798,562,311 - 98,582,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4794,859,607 - 94,880,727 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1794,893,836 - 94,914,957 (+)NCBI
Celera786,456,184 - 86,476,311 (+)NCBICelera
Cytogenetic Map7q33NCBI
Ntaq1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555402,233,741 - 2,248,623 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555402,233,796 - 2,248,404 (+)NCBIChiLan1.0ChiLan1.0
NTAQ1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18122,867,130 - 122,917,602 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8122,867,130 - 122,892,889 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08120,111,600 - 120,137,010 (+)NCBIMhudiblu_PPA_v0panPan3
NTAQ1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11321,703,966 - 21,930,419 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1321,679,326 - 22,017,988 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1321,669,449 - 21,734,573 (+)NCBI
ROS_Cfam_1.01322,044,194 - 22,109,109 (+)NCBI
UMICH_Zoey_3.11321,772,591 - 21,837,683 (+)NCBI
UNSW_CanFamBas_1.01321,874,929 - 21,939,807 (+)NCBI
UU_Cfam_GSD_1.01322,118,497 - 22,183,396 (+)NCBI
Ntaq1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530316,531,421 - 16,548,759 (-)NCBI
SpeTri2.0NW_00493647023,957,498 - 23,974,834 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NTAQ1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,978,764 - 15,998,799 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,980,704 - 15,998,936 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2416,723,845 - 16,742,113 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NTAQ1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18117,997,802 - 118,019,455 (+)NCBI
ChlSab1.1 Ensembl8117,997,803 - 118,019,975 (+)Ensembl
Ntaq1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473531,545,074 - 31,564,576 (-)NCBI

Position Markers
SGC30243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,454,117 - 124,454,242UniSTSGRCh37
Build 368124,523,298 - 124,523,423RGDNCBI36
Celera8120,641,765 - 120,641,890RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,779,681 - 119,779,806UniSTS
GeneMap99-GB4 RH Map8476.41UniSTS
Whitehead-RH Map8642.7UniSTS
NCBI RH Map81461.6UniSTS
G49569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378124,448,765 - 124,448,957UniSTSGRCh37
Build 368124,517,946 - 124,518,138RGDNCBI36
Celera8120,636,426 - 120,636,618RGD
Cytogenetic Map8q24.13UniSTS
HuRef8119,774,359 - 119,774,549UniSTS
TNG Radiation Hybrid Map860061.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1511
Count of miRNA genes:698
Interacting mature miRNAs:778
Transcripts:ENST00000287387, ENST00000517609, ENST00000518125, ENST00000519199, ENST00000522194, ENST00000523356, ENST00000523551, ENST00000523984, ENST00000524254
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 425 748 609 101 535 89 1283 319 1358 189 1075 690 28 192 865 2
Low 2014 2153 1117 523 1332 376 3074 1870 2376 230 385 923 147 1 1012 1923 4 2
Below cutoff 89 83 8

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001283024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_133926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL528914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU119047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG528966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000287387   ⟹   ENSP00000287387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,774 - 123,442,240 (+)Ensembl
RefSeq Acc Id: ENST00000517609   ⟹   ENSP00000497074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,792 - 123,441,623 (+)Ensembl
RefSeq Acc Id: ENST00000518125   ⟹   ENSP00000429258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,429,995 - 123,442,021 (+)Ensembl
RefSeq Acc Id: ENST00000519199   ⟹   ENSP00000430390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,801 - 123,441,596 (+)Ensembl
RefSeq Acc Id: ENST00000522194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,771 - 123,430,061 (+)Ensembl
RefSeq Acc Id: ENST00000523356   ⟹   ENSP00000428615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,813 - 123,441,524 (+)Ensembl
RefSeq Acc Id: ENST00000523551   ⟹   ENSP00000497798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,803 - 123,467,230 (+)Ensembl
RefSeq Acc Id: ENST00000523984   ⟹   ENSP00000430427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,726 - 123,442,240 (+)Ensembl
RefSeq Acc Id: ENST00000524254   ⟹   ENSP00000497832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,755 - 123,448,091 (+)Ensembl
RefSeq Acc Id: ENST00000650311   ⟹   ENSP00000497747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,416,774 - 123,470,028 (+)Ensembl
RefSeq Acc Id: NM_001283024   ⟹   NP_001269953
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,725 - 123,442,240 (+)NCBI
HuRef8119,754,623 - 119,780,044 (+)NCBI
CHM1_18124,469,396 - 124,494,875 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283027   ⟹   NP_001269956
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,725 - 123,442,240 (+)NCBI
HuRef8119,754,623 - 119,780,044 (+)NCBI
CHM1_18124,469,396 - 124,494,875 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018024   ⟹   NP_060494
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,774 - 123,442,240 (+)NCBI
GRCh378124,428,965 - 124,454,261 (+)NCBI
Build 368124,498,146 - 124,523,441 (+)NCBI Archive
Celera8120,616,625 - 120,641,908 (+)RGD
HuRef8119,754,623 - 119,780,044 (+)NCBI
CHM1_18124,469,396 - 124,494,875 (+)NCBI
Sequence:
RefSeq Acc Id: NR_133926
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,774 - 123,448,091 (+)NCBI
CHM1_18124,469,396 - 124,500,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716597   ⟹   XP_006716660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,731 - 123,438,330 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517151   ⟹   XP_011515453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,734 - 123,442,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013601   ⟹   XP_016869090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,731 - 123,467,527 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013602   ⟹   XP_016869091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,732 - 123,467,527 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013603   ⟹   XP_016869092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,733 - 123,452,606 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956634
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,732 - 123,463,373 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956635
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,701 - 123,463,373 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956636
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,701 - 123,467,527 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928337
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,416,725 - 123,463,373 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060494   ⟸   NM_018024
- Peptide Label: isoform 1
- UniProtKB: Q96HA8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269956   ⟸   NM_001283027
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001269953   ⟸   NM_001283024
- Peptide Label: isoform 2
- UniProtKB: Q96HA8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716660   ⟸   XM_006716597
- Peptide Label: isoform X2
- UniProtKB: E5RHC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515453   ⟸   XM_011517151
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869090   ⟸   XM_017013601
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869091   ⟸   XM_017013602
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869092   ⟸   XM_017013603
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000497074   ⟸   ENST00000517609
RefSeq Acc Id: ENSP00000429258   ⟸   ENST00000518125
RefSeq Acc Id: ENSP00000430390   ⟸   ENST00000519199
RefSeq Acc Id: ENSP00000497747   ⟸   ENST00000650311
RefSeq Acc Id: ENSP00000287387   ⟸   ENST00000287387
RefSeq Acc Id: ENSP00000497798   ⟸   ENST00000523551
RefSeq Acc Id: ENSP00000428615   ⟸   ENST00000523356
RefSeq Acc Id: ENSP00000430427   ⟸   ENST00000523984
RefSeq Acc Id: ENSP00000497832   ⟸   ENST00000524254
Protein Domains
Nt_Gln_amidase

Promoters
RGD ID:7214123
Promoter ID:EPDNEW_H12808
Type:initiation region
Name:WDYHV1_1
Description:WDYHV motif containing 1
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
GRCh388123,416,774 - 123,416,834EPDNEW
RGD ID:6806608
Promoter ID:HG_KWN:62036
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018024,   UC003YQI.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368124,497,601 - 124,498,422 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_018024.2(WDYHV1):c.427G>A (p.Ala143Thr) single nucleotide variant Malignant melanoma [RCV000068139] Chr8:123437253 [GRCh38]
Chr8:124449493 [GRCh37]
Chr8:124518674 [NCBI36]
Chr8:8q24.13
not provided
NM_018024.2(WDYHV1):c.313C>T (p.Pro105Ser) single nucleotide variant Malignant melanoma [RCV000061743] Chr8:123436531 [GRCh38]
Chr8:124448771 [GRCh37]
Chr8:124517952 [NCBI36]
Chr8:8q24.13
not provided
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124243771-124440262)x3 copy number gain not provided [RCV000747811] Chr8:124243771..124440262 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13(chr8:124389608-124453866)x3 copy number gain not provided [RCV000747813] Chr8:124389608..124453866 [GRCh37]
Chr8:8q24.13
benign
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124443708-125305582)x1 copy number loss not provided [RCV000848210] Chr8:124443708..125305582 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25490 AgrOrtholog
COSMIC NTAQ1 COSMIC
Ensembl Genes ENSG00000156795 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000287387 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428615 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000429258 UniProtKB/TrEMBL
  ENSP00000430390 UniProtKB/TrEMBL
  ENSP00000430427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000497074 UniProtKB/TrEMBL
  ENSP00000497747 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497798 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000497832 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000287387 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517609 UniProtKB/TrEMBL
  ENST00000518125 UniProtKB/TrEMBL
  ENST00000519199 UniProtKB/TrEMBL
  ENST00000523356 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000523551 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000523984 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524254 UniProtKB/Swiss-Prot
  ENST00000650311 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.10.620.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156795 GTEx
HGNC ID HGNC:25490 ENTREZGENE
Human Proteome Map NTAQ1 Human Proteome Map
InterPro N_Gln_amidohydro_ab_roll_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTAQ1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_N_Gln_amidohydro_ab_roll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55093 UniProtKB/Swiss-Prot
NCBI Gene 55093 ENTREZGENE
PANTHER PTHR13035 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nt_Gln_amidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164727566 PharmGKB
UniProt A0A3B3IS49_HUMAN UniProtKB/TrEMBL
  A0A3B3ITD7_HUMAN UniProtKB/TrEMBL
  A0A3B3ITI2_HUMAN UniProtKB/TrEMBL
  E5RHC2 ENTREZGENE, UniProtKB/TrEMBL
  E5RIY9_HUMAN UniProtKB/TrEMBL
  H0YBV4_HUMAN UniProtKB/TrEMBL
  NTAQ1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DE68 UniProtKB/Swiss-Prot
  Q9NW95 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-04-20 NTAQ1  N-terminal glutamine amidase 1  WDYHV1  WDYHV motif containing 1  Symbol and/or name change 19259463 PROVISIONAL