Aptx (aprataxin) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: Aptx (aprataxin) Rattus norvegicus
Analyze
Symbol: Aptx
Name: aprataxin
RGD ID: 628740
Description: Predicted to enable several functions, including DNA binding activity; double-stranded RNA binding activity; and hydrolase activity, acting on ester bonds. Predicted to be involved in regulation of protein stability and single strand break repair. Predicted to be located in chromatin; nucleolus; and nucleoplasm. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin); PARTICIPATES IN non-homologous end joining pathway of double-strand break repair; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; ammonium chloride; bisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FHA-HIT; forkhead-associated domain histidine triad-like protein
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8560,593,338 - 60,618,946 (-)NCBIGRCr8
mRatBN7.2555,798,896 - 55,822,963 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl555,800,248 - 55,822,855 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx557,767,534 - 57,788,467 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0559,586,691 - 59,607,626 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0559,580,671 - 59,601,669 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0556,987,714 - 57,009,481 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl556,987,909 - 57,008,859 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0561,521,843 - 61,543,083 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,060,210 - 58,081,165 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1558,060,392 - 58,081,344 (-)NCBI
Celera554,414,271 - 54,435,214 (-)NCBICelera
Cytogenetic Map5q22NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRatataxia with oculomotor apraxia type 1 susceptibilityISOAPTX (Homo sapiens)1599207DNA:insertion more ...RGD 
AptxRatataxia with oculomotor apraxia type 1  ISOAPTX (Homo sapiens)10054301DNA:mutations:multiple:RGD 
AptxRatataxia with oculomotor apraxia type 1  ISOAPTX (Homo sapiens)10054300DNA:missense mutation:cds:p.V320G(human)RGD 
AptxRatolivopontocerebellar atrophy  ISOAPTX (Homo sapiens)10054301DNA:missense mutations:cds:725G>A and 457A>G(human)RGD 
1 to 11 of 11 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRatacromesomelic dysplasia, Maroteaux type  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Acromesomelic dysplasia 1 and Maroteaux typeClinVarPMID:28492532
AptxRatataxia with oculomotor apraxia type 1  ISOAPTX (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11176957 more ...
AptxRatcoenzyme Q10 deficiency disease  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Coenzyme Q10 deficiency and Oculomotor Apraxia TypeClinVarPMID:24033266 more ...
AptxRatdistal arthrogryposis type 1A  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Arthrogryposis more ...ClinVarPMID:28492532
AptxRatepilepsy  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: EpilepsyClinVarPMID:25741868
AptxRatfrontotemporal dementia and/or amyotrophic lateral sclerosis 6  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6ClinVarPMID:28492532
AptxRatgalactosemia  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseClinVarPMID:28492532
AptxRatgenetic disease  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:11176957 more ...
AptxRatprimary ciliary dyskinesia  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Primary ciliary dyskinesiaClinVarPMID:28492532
AptxRatprimary coenzyme Q10 deficiency 1  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Coenzyme Q10 deficiency more ...ClinVar 
AptxRatspinocerebellar ataxia with axonal neuropathy 2  ISOAPTX (Homo sapiens)8554872ClinVar Annotator: match by term: Spinocerebellar ataxia more ...ClinVarPMID:24033266 more ...
1 to 11 of 11 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRatataxia with oculomotor apraxia type 1  ISOAPTX (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRatataxia with oculomotor apraxia type 1  ISOAPTX (Homo sapiens)7240710 OMIM 

1 to 20 of 55 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRat(1->4)-beta-D-glucan multiple interactionsISOAptx (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of APTX mRNACTDPMID:36331819
AptxRat2,3',4,4',5-Pentachlorobiphenyl increases expressionISOAptx (Mus musculus)64804642 more ...CTDPMID:31388691
AptxRat2,3,7,8-tetrachlorodibenzodioxine affects expressionISOAptx (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of APTX mRNACTDPMID:21570461
AptxRat2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of APTX mRNACTDPMID:33387578
AptxRat2,3,7,8-tetrachlorodibenzodioxine increases expressionISOAptx (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of APTX mRNACTDPMID:15328365 and PMID:23994337
AptxRat2-methylcholine affects expressionISOAPTX (Homo sapiens)6480464beta-methylcholine affects the expression of APTX mRNACTDPMID:21179406
AptxRat3,3',4,4',5-pentachlorobiphenyl increases expressionISOAptx (Mus musculus)64804643 more ...CTDPMID:23994337
AptxRat3,3',4,4'-tetrachlorobiphenyl multiple interactionsISOAptx (Mus musculus)64804643 more ...CTDPMID:19467301
AptxRat4,4'-diaminodiphenylmethane decreases expressionISOAptx (Mus musculus)64804644 and 4'-diaminodiphenylmethane results in decreased expression of APTX mRNACTDPMID:18648102
AptxRat4,4'-sulfonyldiphenol increases expressionISOAptx (Mus musculus)6480464bisphenol S results in increased expression of APTX mRNACTDPMID:39298647
AptxRatacrolein multiple interactionsISOAPTX (Homo sapiens)6480464[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased oxidation of APTX mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased oxidation of APTX mRNACTDPMID:32699268
AptxRatacrylamide increases expressionISOAPTX (Homo sapiens)6480464Acrylamide results in increased expression of APTX mRNACTDPMID:32763439
AptxRataflatoxin B1 increases methylationISOAPTX (Homo sapiens)6480464Aflatoxin B1 results in increased methylation of APTX intronCTDPMID:30157460
AptxRatall-trans-retinoic acid decreases expressionISOAPTX (Homo sapiens)6480464Tretinoin results in decreased expression of APTX mRNACTDPMID:33167477
AptxRatalpha-pinene multiple interactionsISOAPTX (Homo sapiens)6480464[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased oxidation of APTX mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased oxidation of APTX mRNACTDPMID:32699268
AptxRatammonium chloride affects expressionEXP 6480464Ammonium Chloride affects the expression of APTX mRNACTDPMID:16483693
AptxRatantirheumatic drug decreases expressionISOAPTX (Homo sapiens)6480464Antirheumatic Agents results in decreased expression of APTX mRNACTDPMID:24449571
AptxRataristolochic acid A increases expressionISOAPTX (Homo sapiens)6480464aristolochic acid I results in increased expression of APTX mRNACTDPMID:33212167
AptxRatarsenite(3-) multiple interactionsISOAPTX (Homo sapiens)6480464arsenite promotes the reaction [G3BP1 protein binds to APTX mRNA]CTDPMID:32406909
AptxRatarsenous acid multiple interactionsISOAPTX (Homo sapiens)6480464Arsenic Trioxide inhibits the reaction [4-aminophenylarsenoxide binds to APTX protein]CTDPMID:26598702

1 to 20 of 55 rows

Biological Process
1 to 10 of 10 rows

  
1 to 10 of 10 rows

Cellular Component
1 to 9 of 9 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRatchromatin located_inISOAPTX (Homo sapiens)1624291 PMID:15044383 and PMID:20008512RGDPMID:15044383 and PMID:20008512
AptxRatnucleolus located_inISOAPTX (Homo sapiens)1624291 PMID:15044383 and PMID:16777843RGDPMID:15044383 and PMID:16777843
AptxRatnucleolus located_inIEAUniProtKB-SubCell:SL-01881600115GO_REF:0000044UniProtGO_REF:0000044
AptxRatnucleolus located_inISOAPTX (Homo sapiens) more ...1624291 RGDGO_REF:0000052
AptxRatnucleoplasm located_inIEAUniProtKB-SubCell:SL-01901600115GO_REF:0000044UniProtGO_REF:0000044
AptxRatnucleoplasm located_inISOAPTX (Homo sapiens)1624291 PMID:15044383 and PMID:16777843RGDPMID:15044383 and PMID:16777843
AptxRatnucleoplasm located_inISOAPTX (Homo sapiens) more ...1624291 RGDGO_REF:0000052
AptxRatnucleus located_inIEAUniProtKB-KW:KW-05391600115GO_REF:0000043UniProtGO_REF:0000043
AptxRatnucleus is_active_inIBAPANTHER:PTN000281062 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
1 to 9 of 9 rows

Molecular Function
1 to 20 of 26 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRatcatalytic activity enablesIEAInterPro:IPR0111461600115GO_REF:0000002InterProGO_REF:0000002
AptxRatchromatin binding enablesISOAPTX (Homo sapiens)1624291 PMID:15044383RGDPMID:15044383
AptxRatdamaged DNA binding enablesISOAPTX (Homo sapiens)1624291 PMID:14755728RGDPMID:14755728
AptxRatDNA 5'-adenosine monophosphate hydrolase activity enablesISOAptx (Mus musculus)1624291MGI:3686875 PMID:16964241RGDPMID:16964241
AptxRatDNA 5'-adenosine monophosphate hydrolase activity enablesIEARHEA:52128 and RHEA:521321600115GO_REF:0000116RHEAGO_REF:0000116
AptxRatDNA 5'-adenosine monophosphate hydrolase activity enablesIEAUniProtKB:Q7TQC5 and ensembl:ENSMUSP000000301191600115GO_REF:0000107EnsemblGO_REF:0000107
AptxRatDNA 5'-adenosine monophosphate hydrolase activity enablesIEAEC:3.6.1.711600115GO_REF:0000003UniProtGO_REF:0000003
AptxRatDNA 5'-adenosine monophosphate hydrolase activity enablesIBAMGI:1913658 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
AptxRatDNA 5'-adenosine monophosphate hydrolase activity enablesISOAPTX (Homo sapiens)1624291 PMID:16547001 more ...RGDPMID:16547001 more ...
AptxRatDNA binding enablesIEAUniProtKB-KW:KW-02381600115GO_REF:0000043UniProtGO_REF:0000043
AptxRatDNA-3'-diphospho-5'-guanosine diphosphatase enablesIEAEC:3.6.1.721600115GO_REF:0000003UniProtGO_REF:0000003
AptxRatDNA-3'-diphospho-5'-guanosine diphosphatase enablesIEARHEA:521401600115GO_REF:0000116RHEAGO_REF:0000116
AptxRatdouble-stranded DNA binding enablesISOAPTX (Homo sapiens)1624291 PMID:16547001 and PMID:17276982RGDPMID:16547001 and PMID:17276982
AptxRatdouble-stranded RNA binding enablesISOAPTX (Homo sapiens)1624291 PMID:16547001RGDPMID:16547001
AptxRatdouble-stranded RNA binding enablesIBAPANTHER:PTN000281062 and UniProtKB:Q7Z2E31600115GO_REF:0000033GO_CentralGO_REF:0000033
AptxRathydrolase activity enablesIEAUniProtKB-KW:KW-03781600115GO_REF:0000043UniProtGO_REF:0000043
AptxRatmetal ion binding enablesIEAUniProtKB-KW:KW-04791600115GO_REF:0000043UniProtGO_REF:0000043
AptxRatmismatched DNA binding enablesIBAPANTHER:PTN000281062 and PomBase:SPCC18.09c1600115GO_REF:0000033GO_CentralGO_REF:0000033
AptxRatphosphoglycolate phosphatase activity enablesISOAPTX (Homo sapiens)1624291 PMID:17519253RGDPMID:17519253
AptxRatphosphoprotein binding enablesISOAPTX (Homo sapiens)1624291UniProtKB:Q14676 and PMID:20008512RGDPMID:20008512
1 to 20 of 26 rows

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AptxRatnon-homologous end joining pathway of double-strand break repair   ISOAPTX (Homo sapiens)8662352 RGD 

1 to 13 of 13 rows
#
Reference Title
Reference Citation
1. Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients. Castellotti B, etal., Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.
2. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization. Ferrarini M, etal., J Neurol Sci. 2007 Sep 15;260(1-2):219-24. Epub 2007 Jun 18.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Lieber MR Annu Rev Biochem. 2010;79:181-211. doi: 10.1146/annurev.biochem.052308.093131.
5. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
6. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Moreira MC, etal., Nat Genet 2001 Oct;29(2):189-93.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. GOA pipeline RGD automated data pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Comprehensive gene review and curation RGD comprehensive gene curation
12. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Shimazaki H, etal., Neurology. 2002 Aug 27;59(4):590-5.
13. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
1 to 13 of 13 rows
PMID:14755728   PMID:15044383   PMID:15489334   PMID:16547001   PMID:16777843   PMID:16964241   PMID:17276982   PMID:17519253   PMID:20008512  



Aptx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8560,593,338 - 60,618,946 (-)NCBIGRCr8
mRatBN7.2555,798,896 - 55,822,963 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl555,800,248 - 55,822,855 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx557,767,534 - 57,788,467 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0559,586,691 - 59,607,626 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0559,580,671 - 59,601,669 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0556,987,714 - 57,009,481 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl556,987,909 - 57,008,859 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0561,521,843 - 61,543,083 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,060,210 - 58,081,165 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1558,060,392 - 58,081,344 (-)NCBI
Celera554,414,271 - 54,435,214 (-)NCBICelera
Cytogenetic Map5q22NCBI
APTX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38932,972,616 - 33,025,120 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl932,886,601 - 33,025,130 (-)EnsemblGRCh38hg38GRCh38
GRCh37932,972,614 - 33,025,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,962,608 - 32,991,626 (-)NCBINCBI36Build 36hg18NCBI36
Celera932,903,909 - 32,932,925 (-)NCBICelera
Cytogenetic Map9p21.1NCBI
HuRef932,930,986 - 32,960,001 (-)NCBIHuRef
CHM1_1932,972,285 - 33,001,325 (-)NCBICHM1_1
T2T-CHM13v2.0932,989,181 - 33,041,681 (-)NCBIT2T-CHM13v2.0
Aptx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39440,682,078 - 40,703,206 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl440,682,382 - 40,703,194 (-)EnsemblGRCm39 Ensembl
GRCm38440,682,078 - 40,721,667 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl440,682,382 - 40,703,194 (-)EnsemblGRCm38mm10GRCm38
MGSCv37440,629,111 - 40,650,220 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36440,871,049 - 40,891,858 (-)NCBIMGSCv36mm8
Celera440,342,394 - 40,363,460 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map420.46NCBI
Aptx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554722,652,869 - 2,664,272 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554722,645,716 - 2,664,394 (+)NCBIChiLan1.0ChiLan1.0
APTX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21191,562,555 - 91,634,457 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1991,611,331 - 91,640,405 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0932,747,409 - 32,819,270 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1933,556,419 - 33,608,416 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl933,556,419 - 33,585,060 (-)Ensemblpanpan1.1panPan2
APTX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11150,111,003 - 50,155,937 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1150,113,073 - 50,132,284 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1148,741,830 - 48,752,689 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01151,051,842 - 51,096,541 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1151,052,518 - 51,072,916 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11149,716,952 - 49,727,812 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01149,583,853 - 49,594,717 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01150,348,839 - 50,359,700 (-)NCBIUU_Cfam_GSD_1.0
Aptx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,022,018 - 165,052,707 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365241,570,627 - 1,576,329 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365241,569,610 - 1,582,103 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APTX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,445,148 - 33,543,710 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,470,089 - 33,495,584 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21037,724,516 - 37,837,919 (+)NCBISscrofa10.2Sscrofa10.2susScr3
APTX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11247,239,094 - 47,346,528 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1247,258,798 - 47,287,102 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603844,140,910 - 44,239,181 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aptx
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473637,730,072 - 37,749,174 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473637,729,624 - 37,757,780 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in Aptx
226 total Variants

Predicted Target Of
Summary Value
Count of predictions:50
Count of miRNA genes:47
Interacting mature miRNAs:50
Transcripts:ENSRNOT00000046463
Prediction methods: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.


1 to 10 of 35 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1578776Stresp18Stress response QTL 182.9thymus mass (VT:0004954)thymus wet weight (CMO:0000855)52795544072955440Rat
1298067Scl15Serum cholesterol level QTL 154.80.001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)53321566578215665Rat
1300115Hrtrt7Heart rate QTL 72.76heart pumping trait (VT:2000009)heart rate (CMO:0000002)54786906290099692Rat
1549845Scl44Serum cholesterol level QTL 446blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)540128307148607290Rat
70212Niddm25Non-insulin dependent diabetes mellitus QTL 253.54blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)51131345958Rat
1358353Srcrtb2Stress Responsive Cort Basal QTL 23.480.003blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)51887394774251464Rat
634305Mamtr1Mammary tumor resistance QTL 10.0001mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)512789751113558310Rat
1331801Rf33Renal function QTL 334.149kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)543726656129132602Rat
1598807Glom12Glomerulus QTL 122.7kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)53321566578215665Rat
1302786Kidm8Kidney mass QTL 828.15kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)53321566578215665Rat

1 to 10 of 35 rows
D5Mgh26  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr8560,601,597 - 60,601,739 (+)Marker Load Pipeline
mRatBN7.2555,805,606 - 55,805,750 (+)MAPPERmRatBN7.2
Rnor_6.0556,991,667 - 56,991,808NCBIRnor6.0
Rnor_5.0561,525,796 - 61,525,937UniSTSRnor5.0
RGSC_v3.4558,063,971 - 58,064,113RGDRGSC3.4
RGSC_v3.4558,063,972 - 58,064,113UniSTSRGSC3.4
RGSC_v3.1558,064,151 - 58,064,292RGD
Celera554,418,033 - 54,418,174UniSTS
RH 3.4 Map5271.11UniSTS
RH 3.4 Map5271.11RGD
RH 2.0 Map5324.1RGD
Cytogenetic Map5q22UniSTS
BE103017  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2555,801,665 - 55,801,826 (+)MAPPERmRatBN7.2
Rnor_6.0556,987,732 - 56,987,892NCBIRnor6.0
Rnor_5.0561,521,861 - 61,522,021UniSTSRnor5.0
RGSC_v3.4558,060,037 - 58,060,197UniSTSRGSC3.4
Celera554,414,098 - 54,414,258UniSTS
RH 3.4 Map5270.71UniSTS
Cytogenetic Map5q22UniSTS




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31


1 to 20 of 20 rows
RefSeq Transcripts NM_001436604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001436611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006238027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006238028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006238029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_008763607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017593171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC119348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF398235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FQ214915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 20 of 20 rows

Ensembl Acc Id: ENSRNOT00000046463   ⟹   ENSRNOP00000046400
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl555,800,248 - 55,822,855 (-)Ensembl
Rnor_6.0 Ensembl556,987,909 - 57,008,859 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000090891   ⟹   ENSRNOP00000072443
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl555,800,248 - 55,815,681 (-)Ensembl
Rnor_6.0 Ensembl556,987,909 - 57,008,795 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000094147   ⟹   ENSRNOP00000094856
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl555,800,248 - 55,822,855 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000115715   ⟹   ENSRNOP00000094475
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl555,800,248 - 55,821,492 (-)Ensembl
RefSeq Acc Id: NM_148889   ⟹   NP_683687
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8560,597,836 - 60,618,790 (-)NCBI
mRatBN7.2555,801,839 - 55,822,805 (-)NCBI
Rnor_6.0556,987,905 - 57,008,859 (-)NCBI
Rnor_5.0561,521,843 - 61,543,083 (-)NCBI
RGSC_v3.4558,060,210 - 58,081,165 (-)RGD
Celera554,414,271 - 54,435,214 (-)RGD
Sequence:
RefSeq Acc Id: XM_006238027   ⟹   XP_006238089
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8560,593,338 - 60,618,658 (-)NCBI
mRatBN7.2555,798,896 - 55,822,855 (-)NCBI
Rnor_6.0556,987,714 - 57,009,479 (-)NCBI
Rnor_5.0561,521,843 - 61,543,083 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006238028   ⟹   XP_006238090
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8560,593,338 - 60,618,946 (-)NCBI
mRatBN7.2555,798,896 - 55,822,963 (-)NCBI
Rnor_6.0556,987,714 - 57,009,480 (-)NCBI
Rnor_5.0561,521,843 - 61,543,083 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006238029   ⟹   XP_006238091
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8560,593,338 - 60,611,680 (-)NCBI
mRatBN7.2555,798,896 - 55,815,691 (-)NCBI
Rnor_6.0556,987,714 - 57,001,697 (-)NCBI
Rnor_5.0561,521,843 - 61,543,083 (-)NCBI
Sequence:
RefSeq Acc Id: XM_008763607   ⟹   XP_008761829
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8560,593,338 - 60,618,822 (-)NCBI
mRatBN7.2555,798,896 - 55,822,814 (-)NCBI
Rnor_6.0556,987,714 - 57,009,481 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017593171   ⟹   XP_017448660
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8560,593,338 - 60,618,840 (-)NCBI
mRatBN7.2555,798,896 - 55,822,814 (-)NCBI
Rnor_6.0556,987,714 - 57,003,882 (-)NCBI
Sequence:
1 to 5 of 10 rows
1 to 5 of 10 rows
RefSeq Acc Id: NP_683687   ⟸   NM_148889
- UniProtKB: Q8K4H4 (UniProtKB/Swiss-Prot),   A6IIS0 (UniProtKB/TrEMBL),   A0A8L2R5W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006238090   ⟸   XM_006238028
- Peptide Label: isoform X2
- UniProtKB: Q8K4H4 (UniProtKB/Swiss-Prot),   A6IIS0 (UniProtKB/TrEMBL),   A0A8L2R5W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006238089   ⟸   XM_006238027
- Peptide Label: isoform X2
- UniProtKB: Q8K4H4 (UniProtKB/Swiss-Prot),   A6IIS0 (UniProtKB/TrEMBL),   A0A8L2R5W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006238091   ⟸   XM_006238029
- Peptide Label: isoform X3
- UniProtKB: A0A8L2R5W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008761829   ⟸   XM_008763607
- Peptide Label: isoform X3
- UniProtKB: A0A8L2R5W7 (UniProtKB/TrEMBL)
- Sequence:
C2H2-type   FHA-like   HIT

Name Modeler Protein Id AA Range Protein Structure
AF-Q8K4H4-F1-model_v2 AlphaFold Q8K4H4 1-329 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13693633
Promoter ID:EPDNEW_R4158
Type:initiation region
Name:Aptx_1
Description:aprataxin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0557,008,909 - 57,008,969EPDNEW


1 to 35 of 35 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-41591 BioCyc
Ensembl Genes ENSRNOG00000006582 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000046463 ENTREZGENE
  ENSRNOT00000046463.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.200.20 UniProtKB/Swiss-Prot
  3.30.428.10 UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:7132044 IMAGE-MGC_LOAD
InterPro FHA_2 UniProtKB/Swiss-Prot
  Histidine_triad_CS UniProtKB/Swiss-Prot
  HIT-like UniProtKB/Swiss-Prot
  HIT-like_sf UniProtKB/Swiss-Prot
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot
  Znf-C2HE UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report rno:259271 UniProtKB/Swiss-Prot
MGC_CLONE MGC:93138 IMAGE-MGC_LOAD
NCBI Gene 259271 ENTREZGENE
PANTHER APRATAXIN-RELATED UniProtKB/Swiss-Prot
  PTHR12486:SF4 UniProtKB/Swiss-Prot
Pfam DcpS_C UniProtKB/Swiss-Prot
  FHA_2 UniProtKB/Swiss-Prot
  zf-C2HE UniProtKB/Swiss-Prot
PhenoGen Aptx PhenoGen
PROSITE HIT_1 UniProtKB/Swiss-Prot
  HIT_2 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000006582 RatGTEx
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot
  SSF54197 UniProtKB/Swiss-Prot
UniProt A0A8I6AKE7_RAT UniProtKB/TrEMBL
  A0A8I6GL70 ENTREZGENE, UniProtKB/TrEMBL
  A0A8L2R5W7 ENTREZGENE, UniProtKB/TrEMBL
  A6IIS0 ENTREZGENE, UniProtKB/TrEMBL
  APTX_RAT UniProtKB/Swiss-Prot, ENTREZGENE
1 to 35 of 35 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2004-09-10 Aptx  aprataxin      Symbol and Name status set to approved 1299863 APPROVED
2003-02-27 Aptx  aprataxin      Symbol and Name status set to provisional 70820 PROVISIONAL

Note Type Note Reference
gene_disease mutations in the human homolog have been identified in patients with an early-onset ataxia with ocular motor apraxia and hypoalbuminemia 634558