Aptx (aprataxin) - Rat Genome Database

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Pathways
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
Black 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 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl560,597,648 - 60,618,790 (-)EnsemblGRCr8
mRatBN7.2555,798,896 - 55,822,963 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl555,800,248 - 55,822,855 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx557,767,534 - 57,788,467 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0559,586,691 - 59,607,626 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0559,580,671 - 59,601,669 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0556,987,714 - 57,009,481 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl556,987,909 - 57,008,859 (-)Ensemblrn6Rnor6.0
Rnor_5.0561,521,843 - 61,543,083 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4558,060,210 - 58,081,165 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera554,414,271 - 54,435,214 (-)NCBICelera
RGSC_v3.1558,060,392 - 58,081,344 (-)NCBI
Cytogenetic Map5q22NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (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 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl560,597,648 - 60,618,790 (-)EnsemblGRCr8
mRatBN7.2555,798,896 - 55,822,963 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl555,800,248 - 55,822,855 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx557,767,534 - 57,788,467 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0559,586,691 - 59,607,626 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0559,580,671 - 59,601,669 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0556,987,714 - 57,009,481 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl556,987,909 - 57,008,859 (-)Ensemblrn6Rnor6.0
Rnor_5.0561,521,843 - 61,543,083 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4558,060,210 - 58,081,165 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera554,414,271 - 54,435,214 (-)NCBICelera
RGSC_v3.1558,060,392 - 58,081,344 (-)NCBI
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 (-)Ensemblhg38GRCh38
GRCh37932,972,614 - 33,025,118 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36932,962,608 - 32,991,626 (-)NCBIBuild 36Build 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 EnsemblGRCm39
GRCm38440,682,078 - 40,721,667 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl440,682,382 - 40,703,194 (-)Ensemblmm10GRCm38
MGSCv37440,629,111 - 40,650,220 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
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 (+)Ensembl
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 (-)EnsemblpanPan2panpan1.1
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 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1148,741,830 - 48,752,689 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01151,051,842 - 51,096,541 (-)NCBIROS_Cfam_1.0ROS_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_1.0UU_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 (-)EnsemblSpeTri2.0 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 (+)EnsemblsusScr11Sscrofa11.1
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 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
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_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462473637,729,624 - 37,757,780 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Aptx
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11117,531,016 - 117,554,843 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Aptx
422 total Variants
miRNA Target Status (No longer updated)

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 (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1578776Stresp18Stress response QTL 182.9thymus mass (VT:0004954)thymus wet weight (CMO:0000855)53275164977751649Rat
1298067Scl15Serum cholesterol level QTL 154.80.001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)53801167083011670Rat
1300115Hrtrt7Heart rate QTL 72.76heart pumping trait (VT:2000009)heart rate (CMO:0000002)55266537294894052Rat
6907115Mcs29Mammary carcinoma susceptibility QTL 29mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)53800433183004331Rat
1549845Scl44Serum cholesterol level QTL 446blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)544924861153890773Rat
1358353Srcrtb2Stress Responsive Cort Basal QTL 23.480.003blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)52367149379046465Rat
70212Niddm25Non-insulin dependent diabetes mellitus QTL 253.54blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)538207390136631402Rat
634305Mamtr1Mammary tumor resistance QTL 10.0001mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)51757663362576633Rat
1331801Rf33Renal function QTL 334.149kidney blood vessel physiology trait (VT:0100012)absolute change in renal vascular resistance (CMO:0001900)548523123134369373Rat
1578774Tcas8Tongue tumor susceptibility QTL 83.47tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)51570745160707451Rat
1598807Glom12Glomerulus QTL 122.7kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)53801167083011670Rat
1302786Kidm8Kidney mass QTL 828.15kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)53801167083011670Rat
1331782Rf36Renal function QTL 363.296kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)539019942102105896Rat
6903292Stl28Serum triglyceride level QTL 282.60.0073blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)53331167378311673Rat
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)551657967166600247Rat
1578767Stresp17Stress response QTL 174.30.01blood aldosterone amount (VT:0005346)plasma aldosterone level (CMO:0000551)53275164977751649Rat
1641922Alcrsp8Alcohol response QTL 8alcohol metabolism trait (VT:0015089)blood ethanol level (CMO:0000535)51748608062486080Rat
1576312Emca8Estrogen-induced mammary cancer QTL 84.1mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)555124766172190305Rat
1641912Alcrsp18Alcohol response QTL 18response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)53998594884985948Rat
1576314Eutr1Estrogen induced uterine response QTL 1uterus integrity trait (VT:0010575)pyometritis severity score (CMO:0002009)5692228281330203Rat
6903306Scl35Serum cholesterol QTL 352.60.0073blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)53331167378311673Rat
1576317Eutr2Estrogen induced uterine response QTL 20.01uterus integrity trait (VT:0010575)pyometritis severity score (CMO:0002009)53952692484526924Rat
1331773Scl26Serum cholesterol level QTL 263.065blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)54852312391770353Rat
70189Mcs5Mammary carcinoma susceptibility QTL 510.51mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)560601597137492949Rat
1331771Rf35Renal function QTL 354.36965kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)51001906491770353Rat
61359EaexExperimental allergic encephalomyelitis QTL x3nervous system integrity trait (VT:0010566)post-insult time to onset of experimental autoimmune encephalomyelitis (CMO:0001422)560511627105511627Rat
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)5706553574335773Rat
2290448Scl54Serum cholesterol level QTL 542.93blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)536460764136631402Rat
1641903Alcrsp3Alcohol response QTL 3response to alcohol trait (VT:0010489)duration of loss of righting reflex (CMO:0002289)51748608062486080Rat
1331756Rf34Renal function QTL 344.16275kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)51001906487027358Rat
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)52602321171023211Rat
2303577Gluco47Glucose level QTL 473blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)51652001961520019Rat
2316959Gluco59Glucose level QTL 594.7blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)556546393101546393Rat
1600358Mamtr5Mammary tumor resistance QTL 5mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)52367149368671493Rat

Markers in Region
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
Celera554,418,033 - 54,418,174UniSTS
RGSC_v3.1558,064,151 - 58,064,292RGD
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

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 164 91 90 59 92 59 6 356 192 11 143 81 92 31 17 17

Sequence

Nucleotide Sequences
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

Ensembl Acc Id: ENSRNOT00000046463   ⟹   ENSRNOP00000046400
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl560,597,840 - 60,618,790 (-)Ensembl
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
GRCr8 Ensembl560,597,648 - 60,611,668 (-)Ensembl
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
GRCr8 Ensembl560,597,840 - 60,618,790 (-)Ensembl
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:
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
- Sequence:
RefSeq Acc Id: XP_006238089   ⟸   XM_006238027
- Peptide Label: isoform X2
- 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
- Sequence:
RefSeq Acc Id: XP_017448660   ⟸   XM_017593171
- Peptide Label: isoform X1
- UniProtKB: A0A8I6GL70 (UniProtKB/TrEMBL),   A0A8L2R5W7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000072443   ⟸   ENSRNOT00000090891
Ensembl Acc Id: ENSRNOP00000046400   ⟸   ENSRNOT00000046463
Ensembl Acc Id: ENSRNOP00000094475   ⟸   ENSRNOT00000115715
Ensembl 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
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
  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