Aptx (aprataxin) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: Aptx (aprataxin) Rattus norvegicus
Analyze
Symbol: Aptx
Name: aprataxin
RGD ID: 628740
Description: Predicted to enable several functions, including hydrolase activity, acting on ester bonds; nucleic acid binding activity; and phosphoprotein binding activity. Predicted to be involved in regulation of protein stability and single strand break repair. Predicted to act upstream of or within DNA ligation. Predicted to be located in nucleolus and nucleoplasm. Predicted to be part of chromatin. 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: PROVISIONAL
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: mRatBN7.2 - mRatBN7.2 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


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (IEA,ISO)
nucleolus  (IEA,ISO)
nucleoplasm  (IEA,ISO)
nucleus  (IBA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# 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.
Additional References at PubMed
PMID:14755728   PMID:15044383   PMID:15489334   PMID:16547001   PMID:16777843   PMID:16964241   PMID:17276982   PMID:17519253   PMID:20008512  


Genomics

Comparative Map Data
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

.
Variants in Aptx
224 total Variants
miRNA Target Status

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.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1331756Rf34Renal function QTL 344.16275kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)5190450412Rat
70212Niddm25Non-insulin dependent diabetes mellitus QTL 253.54blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)51131345958Rat
1331771Rf35Renal function QTL 354.36965kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)572947086724018Rat
1576314Eutr1Estrogen induced uterine response QTL 1uterus integrity trait (VT:0010575)pyometritis severity score (CMO:0002009)52138965166875058Rat
8662454Vetf3Vascular elastic tissue fragility QTL 327.4artery integrity trait (VT:0010639)number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries (CMO:0002562)5228222669540447Rat
7394712Emca13Estrogen-induced mammary cancer QTL 13mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)5982326699753708Rat
1641903Alcrsp3Alcohol response QTL 3response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)51268928557689285Rat
634305Mamtr1Mammary tumor resistance QTL 10.0001mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)512789751113558310Rat
1600358Mamtr5Mammary tumor resistance QTL 5mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)51887394763873947Rat
1358353Srcrtb2Stress Responsive Cort Basal QTL 23.480.003blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)51887394774251464Rat
8552954Pigfal14Plasma insulin-like growth factor 1 level QTL 149blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)52122674466226744Rat
1578767Stresp17Stress response QTL 174.30.01blood aldosterone amount (VT:0005346)plasma aldosterone level (CMO:0000551)52795544072955440Rat
1578776Stresp18Stress response QTL 182.9thymus mass (VT:0004954)thymus wet weight (CMO:0000855)52795544072955440Rat
6903292Stl28Serum triglyceride level QTL 282.60.0073blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)52851548973515489Rat
6903306Scl35Serum cholesterol QTL 352.60.0073blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)52851548973515489Rat
2290448Scl54Serum cholesterol level QTL 542.93blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)531663789131345958Rat
1598807Glom12Glomerulus QTL 122.7kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)53321566578215665Rat
1298067Scl15Serum cholesterol level QTL 154.80.001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)53321566578215665Rat
1302786Kidm8Kidney mass QTL 828.15kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)53321566578215665Rat
1576317Eutr2Estrogen induced uterine response QTL 20.01uterus integrity trait (VT:0010575)pyometritis severity score (CMO:0002009)534730116104251008Rat
2316959Gluco59Glucose level QTL 594.7blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)534944474113558310Rat
1641922Alcrsp8Alcohol response QTL 8alcohol metabolism trait (VT:0015089)blood ethanol level (CMO:0000535)53518915368564008Rat
1641912Alcrsp18Alcohol response QTL 18response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)535189153141643988Rat
1549845Scl44Serum cholesterol level QTL 446blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)540128307148607290Rat
1331773Scl26Serum cholesterol level QTL 263.065blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)54372665686724018Rat
1331801Rf33Renal function QTL 334.149kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)543726656129132602Rat
1578766Tcas11Tongue tumor susceptibility QTL 114.12tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)546711509161317411Rat
1300115Hrtrt7Heart rate QTL 72.76heart pumping trait (VT:2000009)heart rate (CMO:0000002)54786906290099692Rat
9589025Epfw7Epididymal fat weight QTL 720.660.001epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)54946360094463600Rat
7411561Bw134Body weight QTL 134240.001body mass (VT:0001259)body weight gain (CMO:0000420)54946360094463600Rat
1576312Emca8Estrogen-induced mammary cancer QTL 84.1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)550328551141643988Rat
2303615Vencon7Ventilatory control QTL 70.001respiration trait (VT:0001943)respiration rate (CMO:0000289)55098389595983895Rat
2303574Gluco42Glucose level QTL 422blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)55349671998496719Rat
61359EaexExperimental allergic encephalomyelitis QTL x3nervous system integrity trait (VT:0010566)post-insult time to onset of experimental autoimmune encephalomyelitis (CMO:0001422)555715622100715622Rat
70189Mcs5Mammary carcinoma susceptibility QTL 510.51mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)555805606132207589Rat

Markers in Region
D5Mgh26  
Rat AssemblyChrPosition (strand)SourceJBrowse
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


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 appendage
High
Medium 3 20 21 6 19 6 73 34 41 11
Low 23 36 35 35 8 11 1 1 8
Below cutoff

Sequence


Reference Sequences
RefSeq 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
RefSeq 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
RefSeq Acc Id: ENSRNOT00000094147   ⟹   ENSRNOP00000094856
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl555,800,248 - 55,822,855 (-)Ensembl
RefSeq 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: PROVISIONAL
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:
Reference Protein Sequences
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:
RefSeq Acc Id: XP_017448660   ⟸   XM_017593171
- Peptide Label: isoform X1
- UniProtKB: A0A8I6GL70 (UniProtKB/TrEMBL),   A0A8L2R5W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000072443   ⟸   ENSRNOT00000090891
RefSeq Acc Id: ENSRNOP00000046400   ⟸   ENSRNOT00000046463
RefSeq Acc Id: ENSRNOP00000094475   ⟸   ENSRNOT00000115715
RefSeq Acc Id: ENSRNOP00000094856   ⟸   ENSRNOT00000094147
Protein Domains
C2H2-type   FHA-like   HIT

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

Transcriptome

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

Promoters
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

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:628740 AgrOrtholog
BioCyc Gene G2FUF-41591 BioCyc
Ensembl Genes ENSRNOG00000006582 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000046463.5 UniProtKB/Swiss-Prot
  ENSRNOT00000090891.2 UniProtKB/TrEMBL
  ENSRNOT00000094147.1 UniProtKB/TrEMBL
  ENSRNOT00000115715.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.200.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.428.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7132044 IMAGE-MGC_LOAD
InterPro FHA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histidine_triad_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf-C2HE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:259271 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGC_CLONE MGC:93138 IMAGE-MGC_LOAD
NCBI Gene 259271 ENTREZGENE
PANTHER APRATAXIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12486:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DcpS_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FHA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2HE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Aptx PhenoGen
PROSITE HIT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000006582 RatGTEx
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54197 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I6AKE7_RAT UniProtKB/TrEMBL
  A0A8I6GL70 ENTREZGENE, UniProtKB/TrEMBL
  A0A8L2R5W7 ENTREZGENE, UniProtKB/TrEMBL
  A6IIS0 ENTREZGENE, UniProtKB/TrEMBL
  APTX_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
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

RGD Curation Notes
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