GVQW3 (GVQW motif containing 3) - Rat Genome Database

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Gene: GVQW3 (GVQW motif containing 3) Homo sapiens
Analyze
Symbol: GVQW3
Name: GVQW motif containing 3
RGD ID: 13440401
HGNC Page HGNC:51239
Description:
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: GVQW motif-containing protein 3; putative uncharacterized protein FLJ37770
RGD Orthologs
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh381176,381,323 - 76,414,634 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1176,381,303 - 76,414,619 (+)EnsemblGRCh38hg38GRCh38
GRCh371176,092,367 - 76,125,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera1173,400,168 - 73,426,988 (+)NCBICelera
Cytogenetic Map11q13.5NCBI
HuRef1172,389,193 - 72,422,552 (+)NCBIHuRef
CHM1_11175,975,796 - 76,009,154 (+)NCBICHM1_1
T2T-CHM13v2.01176,311,048 - 76,344,366 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16554811   PMID:31586073   PMID:35563538  


Genomics

Comparative Map Data
GVQW3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381176,381,323 - 76,414,634 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1176,381,303 - 76,414,619 (+)EnsemblGRCh38hg38GRCh38
GRCh371176,092,367 - 76,125,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera1173,400,168 - 73,426,988 (+)NCBICelera
Cytogenetic Map11q13.5NCBI
HuRef1172,389,193 - 72,422,552 (+)NCBIHuRef
CHM1_11175,975,796 - 76,009,154 (+)NCBICHM1_1
T2T-CHM13v2.01176,311,048 - 76,344,366 (+)NCBIT2T-CHM13v2.0
Gm57488
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39798,351,065 - 98,352,083 (-)NCBIGRCm39GRCm39mm39
GRCm38798,701,858 - 98,702,876 (-)NCBIGRCm38GRCm38mm10GRCm38
Cytogenetic Map7E1NCBI
Gvqw3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541415,484,559 - 15,538,991 (-)NCBIChiLan1.0ChiLan1.0
GVQW3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2977,303,936 - 77,345,862 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11178,349,191 - 78,391,116 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01171,432,922 - 71,468,862 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11175,060,364 - 75,093,235 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1175,066,872 - 75,093,235 (-)Ensemblpanpan1.1panPan2
GVQW3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12122,285,801 - 22,292,994 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2122,291,858 - 22,292,484 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.02122,488,446 - 22,495,628 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2122,494,497 - 22,495,123 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12122,263,076 - 22,270,253 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02122,482,494 - 22,489,674 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02122,401,640 - 22,409,058 (-)NCBIUU_Cfam_GSD_1.0
Gvqw3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494763,477,874 - 63,502,998 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364985,077,539 - 5,078,915 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GVQW3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl910,566,782 - 10,572,668 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1910,567,270 - 10,600,780 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2911,670,812 - 11,673,605 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Gvqw3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624817743,186 - 785,298 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GVQW3
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5
pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
NM_001347885.2(GVQW3):c.465+129T>C single nucleotide variant not provided [RCV003390092] Chr11:76382422 [GRCh38]
Chr11:76093466 [GRCh37]
Chr11:11q13.5
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2884
Count of miRNA genes:1212
Interacting mature miRNAs:1524
Transcripts:ENST00000321844, ENST00000529331, ENST00000530460, ENST00000531207, ENST00000531785, ENST00000534586
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2 2 1 1 1 23 1 8 7 2 1 1
Low 965 799 1119 173 771 57 1963 331 2574 238 1201 1090 128 460 1235 5 1
Below cutoff 1472 2187 592 437 1175 395 2392 1865 1137 179 251 516 44 743 1553 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001305225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI289296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX103108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK003340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000321844   ⟹   ENSP00000323821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,325 - 76,408,136 (+)Ensembl
RefSeq Acc Id: ENST00000529331   ⟹   ENSP00000489195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,323 - 76,408,132 (+)Ensembl
RefSeq Acc Id: ENST00000530460   ⟹   ENSP00000489606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,305 - 76,404,100 (+)Ensembl
RefSeq Acc Id: ENST00000531207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,313 - 76,414,619 (+)Ensembl
RefSeq Acc Id: ENST00000531785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,812 - 76,395,099 (+)Ensembl
RefSeq Acc Id: ENST00000534586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,382,785 - 76,411,306 (+)Ensembl
RefSeq Acc Id: ENST00000607673   ⟹   ENSP00000499448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,348 - 76,392,905 (+)Ensembl
RefSeq Acc Id: ENST00000662483   ⟹   ENSP00000499731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,303 - 76,414,612 (+)Ensembl
RefSeq Acc Id: ENST00000663165   ⟹   ENSP00000499610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,316 - 76,390,092 (+)Ensembl
RefSeq Acc Id: ENST00000667240   ⟹   ENSP00000499789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,348 - 76,413,828 (+)Ensembl
RefSeq Acc Id: ENST00000673806   ⟹   ENSP00000501183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1176,381,829 - 76,410,896 (+)Ensembl
RefSeq Acc Id: NM_001282456   ⟹   NP_001269385
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,381,323 - 76,408,132 (+)NCBI
CHM1_11175,975,846 - 76,002,665 (+)NCBI
T2T-CHM13v2.01176,311,048 - 76,337,862 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001305225   ⟹   NP_001292154
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,381,323 - 76,390,133 (+)NCBI
CHM1_11175,975,846 - 75,981,074 (+)NCBI
T2T-CHM13v2.01176,311,048 - 76,319,858 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347884   ⟹   NP_001334813
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,381,323 - 76,414,634 (+)NCBI
T2T-CHM13v2.01176,311,048 - 76,344,366 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347885   ⟹   NP_001334814
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,381,323 - 76,408,132 (+)NCBI
T2T-CHM13v2.01176,311,048 - 76,337,862 (+)NCBI
Sequence:
RefSeq Acc Id: NR_130990
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,381,323 - 76,414,634 (+)NCBI
CHM1_11175,975,846 - 76,009,169 (+)NCBI
T2T-CHM13v2.01176,311,048 - 76,344,366 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448281   ⟹   XP_024304049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,381,323 - 76,392,905 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448282   ⟹   XP_024304050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381176,381,323 - 76,395,102 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054367366   ⟹   XP_054223341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01176,311,048 - 76,319,858 (+)NCBI
RefSeq Acc Id: XM_054367367   ⟹   XP_054223342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01176,311,048 - 76,326,566 (+)NCBI
RefSeq Acc Id: NP_001269385   ⟸   NM_001282456
- Peptide Label: isoform a
- UniProtKB: Q8N9C3 (UniProtKB/Swiss-Prot),   Q3ZCU0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001292154   ⟸   NM_001305225
- Peptide Label: isoform b
- UniProtKB: Q3ZCU0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001334813   ⟸   NM_001347884
- Peptide Label: isoform c
- UniProtKB: A0A590UK82 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334814   ⟸   NM_001347885
- Peptide Label: isoform d
- UniProtKB: A0A0U1RQW1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304050   ⟸   XM_024448282
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024304049   ⟸   XM_024448281
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000501183   ⟸   ENST00000673806
RefSeq Acc Id: ENSP00000499731   ⟸   ENST00000662483
RefSeq Acc Id: ENSP00000489606   ⟸   ENST00000530460
RefSeq Acc Id: ENSP00000499610   ⟸   ENST00000663165
RefSeq Acc Id: ENSP00000323821   ⟸   ENST00000321844
RefSeq Acc Id: ENSP00000499789   ⟸   ENST00000667240
RefSeq Acc Id: ENSP00000499448   ⟸   ENST00000607673
RefSeq Acc Id: ENSP00000489195   ⟸   ENST00000529331
RefSeq Acc Id: XP_054223342   ⟸   XM_054367367
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054223341   ⟸   XM_054367366
- Peptide Label: isoform X1
Protein Domains
Mos1 transposase HTH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3ZCU0-F1-model_v2 AlphaFold Q3ZCU0 1-254 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC GVQW3 COSMIC
Ensembl Genes ENSG00000179240 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321844 ENTREZGENE
  ENST00000321844.6 UniProtKB/Swiss-Prot
  ENST00000529331 ENTREZGENE
  ENST00000529331.2 UniProtKB/TrEMBL
  ENST00000530460.2 UniProtKB/Swiss-Prot
  ENST00000531207 ENTREZGENE
  ENST00000607673.2 UniProtKB/Swiss-Prot
  ENST00000662483 ENTREZGENE
  ENST00000662483.1 UniProtKB/TrEMBL
  ENST00000663165 ENTREZGENE
  ENST00000663165.1 UniProtKB/Swiss-Prot
  ENST00000667240.1 UniProtKB/TrEMBL
  ENST00000673806.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.1450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179240 GTEx
HGNC ID HGNC:51239 ENTREZGENE
Human Proteome Map GVQW3 Human Proteome Map
InterPro Mos1_HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100506127 UniProtKB/Swiss-Prot
NCBI Gene GVQW3 ENTREZGENE
PANTHER MARINER MOS1 TRANSPOSASE-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN GVQW3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HTH_48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166181541 PharmGKB
PRINTS F138DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQW1 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UK82 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UKB8_HUMAN UniProtKB/TrEMBL
  A0A669KB94_HUMAN UniProtKB/TrEMBL
  GVQW3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N9C3 ENTREZGENE
UniProt Secondary Q8N9C3 UniProtKB/Swiss-Prot