EuRBPDB

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  • Description
  • RBDs
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000137074 (Gene tree)
Gene ID
54840
Gene Symbol
APTX
Alias
FLJ20157|AOA|AOA1|EAOH|EOAHA|AXA1
Full Name
aprataxin
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Minus strand
Length
52,563 bases
Position
chr9:32,972,606-33,025,168
Accession
15984
RBP type
canonical RBP
Summary
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
RNA binding domains(RBDs)
Protein IDDomain Pfam IDE-value Domain number Total number
ENSP00000380357DcpS_CPF11969.84.7e-3311
ENSP00000311547DcpS_CPF11969.85.3e-3311
ENSP00000369153DcpS_CPF11969.85.6e-3311
ENSP00000419042DcpS_CPF11969.85.9e-3311
ENSP00000369145DcpS_CPF11969.86.5e-3311
ENSP00000400806DcpS_CPF11969.86.5e-3311
ENSP00000419846DcpS_CPF11969.86.5e-3311
ENSP00000420263DcpS_CPF11969.86.5e-3311
ENSP00000369147DcpS_CPF11969.87e-3311
ENSP00000369141DcpS_CPF11969.82.7e-3211
ENSP00000369140DcpS_CPF11969.81.2e-2111
ENSP00000419020DcpS_CPF11969.81.6e-2111
ENSP00000417649DcpS_CPF11969.82.5e-0711

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
16547001Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.J Biol Chem2006 May 19Kijas AW-
24362567Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.Nature2014 Feb 6Tumbale Pdoi: 10.1038/nature12824
16777843Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.Hum Mol Genet2006 Jul 15Becherel OJ-
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000379817APTX-2042106-ENSP00000369145342 (aa)-Q7Z2E3
ENST00000486724APTX-228556--- (aa)--
ENST00000379813APTX-2031121-ENSP00000369141336 (aa)-A0A0A0MRW7
ENST00000379812APTX-202599XM_017014836ENSP00000369140198 (aa)XP_016870325F8W6G5
ENST00000494649APTX-2302099-ENSP0000041763449 (aa)-Q7Z2E3
ENST00000485479APTX-2271986-ENSP0000041814449 (aa)-Q7Z2E3
ENST00000496030APTX-233633--- (aa)--
ENST00000480031APTX-224674-ENSP0000041768452 (aa)-F8WBD6
ENST00000460945APTX-210542--- (aa)--
ENST00000460940APTX-2091874-ENSP0000041831149 (aa)-Q7Z2E3
ENST00000467331APTX-2142101-ENSP0000041873349 (aa)-Q7Z2E3
ENST00000309615APTX-2011859XM_006716792ENSP00000311547288 (aa)XP_006716855Q7Z2E3
ENST00000479656APTX-2231881-ENSP0000042007149 (aa)-Q7Z2E3
ENST00000489583APTX-229397--- (aa)--
ENST00000473221APTX-217687-ENSP00000419020216 (aa)-C9JZ40
ENST00000473270APTX-218645--- (aa)--
ENST00000397172APTX-2071740-ENSP00000380357284 (aa)-Q7Z2E3
ENST00000472896APTX-2161759-ENSP0000041780449 (aa)-Q7Z2E3
ENST00000379819APTX-2051820-ENSP00000369147356 (aa)-Q7Z2E3
ENST00000379825APTX-2062023XM_017014838ENSP00000369153306 (aa)XP_016870327Q7Z2E3
ENST00000494973APTX-231547--- (aa)--
ENST00000464632APTX-212679-ENSP0000041806963 (aa)-E7EUY4
ENST00000465003APTX-2131991-ENSP0000041943085 (aa)-Q6JV79
ENST00000468275APTX-2151455-ENSP00000420263342 (aa)-Q7Z2E3
ENST00000436040APTX-2082168XM_006716791ENSP00000400806342 (aa)XP_006716854Q7Z2E3
ENST00000463596APTX-2111345-ENSP00000419846342 (aa)-Q7Z2E3
ENST00000478279APTX-222684-ENSP0000041959799 (aa)-E7EVB7
ENST00000482687APTX-2251879-ENSP00000419289192 (aa)-Q7Z2E3
ENST00000483148APTX-2261764-ENSP0000041972385 (aa)-Q6JV79
ENST00000476858APTX-2201068-ENSP00000419042302 (aa)-Q7Z2E3
ENST00000495360APTX-2321313-ENSP0000041962349 (aa)-Q7Z2E3
ENST00000474658APTX-219952-ENSP0000041775074 (aa)-F8WBM3
ENST00000477119APTX-221568-ENSP00000417649155 (aa)-C9J8U3
Gene Model
Click here to download ENSG00000137074's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000137074Pancreatic Neoplasms1.3410000E-00419648918
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000137074rs4879656933012384AMenopause (age at onset)26414677[0.081-0.159] years decrease0.12EFO_0004704
ENSG00000137074rs10813912932975212?Age at menopause30595370EFO_0004704
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000137074's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000137074APTX9872.632ENSAPOG00000008785aptx9961.062Acanthochromis_polyacanthus
ENSG00000137074APTX9994.972ENSAMEG00000007648APTX9988.952Ailuropoda_melanoleuca
ENSG00000137074APTX9266.667ENSACIG00000002035aptx9959.875Amphilophus_citrinellus
ENSG00000137074APTX9961.357ENSAOCG00000000634aptx9961.357Amphiprion_ocellaris
ENSG00000137074APTX9961.357ENSAPEG00000017253aptx9961.357Amphiprion_percula
ENSG00000137074APTX9271.579ENSATEG00000017383aptx9960.767Anabas_testudineus
ENSG00000137074APTX8269.756ENSAPLG00000015645APTX9960.938Anas_platyrhynchos
ENSG00000137074APTX9576.087ENSACAG00000003581APTX9661.561Anolis_carolinensis
ENSG00000137074APTX10098.343ENSANAG00000030160APTX10092.978Aotus_nancymaae
ENSG00000137074APTX9470.455ENSACLG00000018887aptx10061.062Astatotilapia_calliptera
ENSG00000137074APTX9277.895ENSAMXG00000039899aptx9959.412Astyanax_mexicanus
ENSG00000137074APTX10089.181ENSBTAG00000013947APTX9989.244Bos_taurus
ENSG00000137074APTX10093.567ENSCJAG00000007940APTX10093.294Callithrix_jacchus
ENSG00000137074APTX9992.647ENSCAFG00000001812APTX9992.647Canis_familiaris
ENSG00000137074APTX9992.647ENSCAFG00020015598APTX9992.647Canis_lupus_dingo
ENSG00000137074APTX9894.475ENSCHIG00000012896APTX10088.889Capra_hircus
ENSG00000137074APTX10090.643ENSTSYG00000003041APTX10090.643Carlito_syrichta
ENSG00000137074APTX9090.909ENSCAPG00000013470APTX10092.683Cavia_aperea
ENSG00000137074APTX9989.443ENSCPOG00000005975APTX10089.535Cavia_porcellus
ENSG00000137074APTX10094.152ENSCCAG00000036783APTX10093.878Cebus_capucinus
ENSG00000137074APTX10096.784ENSCATG00000042639APTX10096.181Cercocebus_atys
ENSG00000137074APTX10086.550ENSCLAG00000012185APTX10091.304Chinchilla_lanigera
ENSG00000137074APTX10097.953ENSCSAG00000009885APTX10097.472Chlorocebus_sabaeus
ENSG00000137074APTX9577.901ENSCPBG00000023973APTX9864.972Chrysemys_picta_bellii
ENSG00000137074APTX9354.348ENSCING00000008741-9840.160Ciona_intestinalis
ENSG00000137074APTX9151.445ENSCSAVG00000008038-9740.390Ciona_savignyi
ENSG00000137074APTX10096.199ENSCANG00000037253APTX10096.199Colobus_angolensis_palliatus
ENSG00000137074APTX9493.258ENSCGRG00001000705Aptx9990.110Cricetulus_griseus_chok1gshd
ENSG00000137074APTX9493.258ENSCGRG00000014159Aptx9990.110Cricetulus_griseus_crigri
ENSG00000137074APTX9958.065ENSCSEG00000009549aptx9958.065Cynoglossus_semilaevis
ENSG00000137074APTX9272.632ENSCVAG00000011942aptx9958.333Cyprinodon_variegatus
ENSG00000137074APTX9274.737ENSDARG00000027143aptx9957.988Danio_rerio
ENSG00000137074APTX9990.000ENSDNOG00000018498APTX9988.102Dasypus_novemcinctus
ENSG00000137074APTX10084.840ENSDORG00000002139Aptx10091.304Dipodomys_ordii
ENSG00000137074APTX6440.449FBgn0038704CG53168747.541Drosophila_melanogaster
ENSG00000137074APTX8585.656ENSETEG00000012459APTX7986.429Echinops_telfairi
ENSG00000137074APTX9659.783ENSEBUG00000013914aptx9746.944Eptatretus_burgeri
ENSG00000137074APTX10090.351ENSEASG00005004566APTX10090.351Equus_asinus_asinus
ENSG00000137074APTX9695.580ENSECAG00000012674APTX9390.407Equus_caballus
ENSG00000137074APTX9393.684ENSEEUG00000010693APTX9984.262Erinaceus_europaeus
ENSG00000137074APTX9994.737ENSFCAG00000008728APTX9992.647Felis_catus
ENSG00000137074APTX9476.136ENSFALG00000001230APTX9964.740Ficedula_albicollis
ENSG00000137074APTX9985.000ENSFDAG00000013752APTX10084.239Fukomys_damarensis
ENSG00000137074APTX9251.613ENSFHEG00000021328aptx7356.294Fundulus_heteroclitus
ENSG00000137074APTX9956.342ENSGMOG00000012505aptx9956.342Gadus_morhua
ENSG00000137074APTX9573.262ENSGALG00000001954APTX10061.714Gallus_gallus
ENSG00000137074APTX9469.832ENSGAFG00000005086aptx9959.292Gambusia_affinis
ENSG00000137074APTX9370.950ENSGACG00000017887aptx9960.000Gasterosteus_aculeatus
ENSG00000137074APTX9478.409ENSGAGG00000013230APTX9965.439Gopherus_agassizii
ENSG00000137074APTX10097.419ENSGGOG00000014232APTX10097.895Gorilla_gorilla
ENSG00000137074APTX9470.455ENSHBUG00000021058aptx10061.062Haplochromis_burtoni
ENSG00000137074APTX9493.258ENSHGLG00000015093APTX10093.220Heterocephalus_glaber_female
ENSG00000137074APTX9493.258ENSHGLG00100013482APTX10093.220Heterocephalus_glaber_male
ENSG00000137074APTX9959.531ENSHCOG00000018216aptx9659.531Hippocampus_comes
ENSG00000137074APTX9474.157ENSIPUG00000017548aptx9960.117Ictalurus_punctatus
ENSG00000137074APTX9591.713ENSSTOG00000005185APTX10086.510Ictidomys_tridecemlineatus
ENSG00000137074APTX9885.417ENSJJAG00000015653Aptx10082.405Jaculus_jaculus
ENSG00000137074APTX9860.417ENSKMAG00000000117aptx9958.702Kryptolebias_marmoratus
ENSG00000137074APTX9468.182ENSLBEG00000021489APTX9368.182Labrus_bergylta
ENSG00000137074APTX9468.182ENSLBEG00000015353aptx9368.182Labrus_bergylta
ENSG00000137074APTX9774.419ENSLACG00000003376APTX9962.216Latimeria_chalumnae
ENSG00000137074APTX9679.348ENSLOCG00000011556aptx9662.791Lepisosteus_oculatus
ENSG00000137074APTX9597.802ENSLAFG00000005665APTX9992.105Loxodonta_africana
ENSG00000137074APTX10096.732ENSMFAG00000043141APTX10096.732Macaca_fascicularis
ENSG00000137074APTX10097.661ENSMMUG00000007724APTX10097.024Macaca_mulatta
ENSG00000137074APTX10097.076ENSMNEG00000042341APTX10097.076Macaca_nemestrina
ENSG00000137074APTX10097.076ENSMLEG00000035137APTX10097.076Mandrillus_leucophaeus
ENSG00000137074APTX9468.715ENSMAMG00000018377aptx9958.997Mastacembelus_armatus
ENSG00000137074APTX9469.832ENSMZEG00005022621aptx10060.767Maylandia_zebra
ENSG00000137074APTX6474.033ENSMGAG00000005736APTX10074.033Meleagris_gallopavo
ENSG00000137074APTX9491.954ENSMAUG00000006039Aptx9989.560Mesocricetus_auratus
ENSG00000137074APTX9992.669ENSMICG00000006603APTX10090.449Microcebus_murinus
ENSG00000137074APTX9495.652ENSMOCG00000000869Aptx9989.560Microtus_ochrogaster
ENSG00000137074APTX9275.789ENSMMOG00000007028aptx9962.647Mola_mola
ENSG00000137074APTX9286.667ENSMODG00000003365APTX10062.784Monodelphis_domestica
ENSG00000137074APTX9266.667ENSMALG00000003828aptx9956.471Monopterus_albus
ENSG00000137074APTX9293.333MGP_CAROLIEiJ_G0025897-9989.560Mus_caroli
ENSG00000137074APTX9492.179ENSMUSG00000028411Aptx9990.659Mus_musculus
ENSG00000137074APTX9493.182MGP_PahariEiJ_G0024020Aptx9493.182Mus_pahari
ENSG00000137074APTX9492.179MGP_SPRETEiJ_G0026846Aptx9785.841Mus_spretus
ENSG00000137074APTX9990.294ENSMPUG00000004290APTX9990.294Mustela_putorius_furo
ENSG00000137074APTX9991.176ENSMLUG00000016081APTX9591.228Myotis_lucifugus
ENSG00000137074APTX9593.333ENSNGAG00000016314Aptx10088.043Nannospalax_galili
ENSG00000137074APTX9961.176ENSNBRG00000014199aptx10061.176Neolamprologus_brichardi
ENSG00000137074APTX10098.264ENSNLEG00000032184APTX10098.264Nomascus_leucogenys
ENSG00000137074APTX9474.576ENSMEUG00000004153APTX9965.015Notamacropus_eugenii
ENSG00000137074APTX9295.556ENSOPRG00000012403APTX10081.759Ochotona_princeps
ENSG00000137074APTX8893.023ENSODEG00000000097-10080.623Octodon_degus
ENSG00000137074APTX9594.318ENSODEG00000015832-10087.390Octodon_degus
ENSG00000137074APTX9570.455ENSONIG00000014541aptx8360.411Oreochromis_niloticus
ENSG00000137074APTX9081.818ENSOANG00000009878APTX9863.816Ornithorhynchus_anatinus
ENSG00000137074APTX9990.588ENSOCUG00000000738-9990.378Oryctolagus_cuniculus
ENSG00000137074APTX9486.957ENSOCUG00000025059-9393.443Oryctolagus_cuniculus
ENSG00000137074APTX9957.478ENSORLG00000006237aptx10057.478Oryzias_latipes
ENSG00000137074APTX9957.478ENSORLG00020021478aptx10057.478Oryzias_latipes_hni
ENSG00000137074APTX9269.714ENSORLG00015021873aptx10058.544Oryzias_latipes_hsok
ENSG00000137074APTX9950.416ENSOMEG00000007875aptx9650.416Oryzias_melastigma
ENSG00000137074APTX9993.923ENSOGAG00000005388APTX9989.266Otolemur_garnettii
ENSG00000137074APTX10095.028ENSOARG00000009598APTX10086.798Ovis_aries
ENSG00000137074APTX10099.415ENSPPAG00000030295APTX10099.346Pan_paniscus
ENSG00000137074APTX9992.647ENSPPRG00000017524APTX9992.647Panthera_pardus
ENSG00000137074APTX9992.647ENSPTIG00000020000APTX9992.647Panthera_tigris_altaica
ENSG00000137074APTX100100.000ENSPTRG00000020850APTX10099.415Pan_troglodytes
ENSG00000137074APTX10097.953ENSPANG00000025301APTX10097.321Papio_anubis
ENSG00000137074APTX9470.899ENSPKIG00000013601aptx9962.029Paramormyrops_kingsleyae
ENSG00000137074APTX9978.571ENSPSIG00000010521APTX9967.787Pelodiscus_sinensis
ENSG00000137074APTX9371.591ENSPMGG00000018649aptx9957.771Periophthalmus_magnuspinnatus
ENSG00000137074APTX9496.591ENSPEMG00000007747Aptx9990.110Peromyscus_maniculatus_bairdii
ENSG00000137074APTX9553.684ENSPMAG00000008417aptx9847.443Petromyzon_marinus
ENSG00000137074APTX9484.091ENSPCIG00000029852APTX10068.376Phascolarctos_cinereus
ENSG00000137074APTX9268.889ENSPFOG00000004992aptx9959.292Poecilia_formosa
ENSG00000137074APTX9268.889ENSPFOG00000005131-9959.587Poecilia_formosa
ENSG00000137074APTX9268.889ENSPLAG00000007906aptx9959.587Poecilia_latipinna
ENSG00000137074APTX9268.889ENSPLAG00000007960APTX9959.587Poecilia_latipinna
ENSG00000137074APTX9268.889ENSPMEG00000018504aptx9959.882Poecilia_mexicana
ENSG00000137074APTX9268.889ENSPMEG00000019789APTX9959.587Poecilia_mexicana
ENSG00000137074APTX9268.889ENSPREG00000004375aptx9958.804Poecilia_reticulata
ENSG00000137074APTX10098.538ENSPPYG00000019142APTX10098.034Pongo_abelii
ENSG00000137074APTX9495.652ENSPCAG00000010014APTX9976.246Procavia_capensis
ENSG00000137074APTX10094.737ENSPCOG00000016780APTX10094.737Propithecus_coquereli
ENSG00000137074APTX9989.474ENSPVAG00000011468APTX9988.669Pteropus_vampyrus
ENSG00000137074APTX9470.455ENSPNYG00000007675aptx10061.062Pundamilia_nyererei
ENSG00000137074APTX9275.789ENSPNAG00000015984aptx9957.941Pygocentrus_nattereri
ENSG00000137074APTX9492.179ENSRNOG00000006582Aptx9982.006Rattus_norvegicus
ENSG00000137074APTX10096.875ENSRBIG00000042913APTX10096.784Rhinopithecus_bieti
ENSG00000137074APTX10096.528ENSRROG00000035395APTX10096.491Rhinopithecus_roxellana
ENSG00000137074APTX10094.444ENSSBOG00000025215APTX10094.444Saimiri_boliviensis_boliviensis
ENSG00000137074APTX9584.270ENSSHAG00000012205APTX9669.298Sarcophilus_harrisii
ENSG00000137074APTX9476.404ENSSFOG00015009267aptx9966.286Scleropages_formosus
ENSG00000137074APTX9470.455ENSSMAG00000008839aptx9961.947Scophthalmus_maximus
ENSG00000137074APTX9961.947ENSSDUG00000001989aptx9961.947Seriola_dumerili
ENSG00000137074APTX9962.242ENSSLDG00000004915aptx9962.242Seriola_lalandi_dorsalis
ENSG00000137074APTX9678.495ENSSPUG00000008994APTX8478.495Sphenodon_punctatus
ENSG00000137074APTX9962.242ENSSPAG00000020373aptx9962.242Stegastes_partitus
ENSG00000137074APTX9991.176ENSSSCG00000011001APTX9991.176Sus_scrofa
ENSG00000137074APTX9473.034ENSTGUG00000001441APTX9963.265Taeniopygia_guttata
ENSG00000137074APTX9468.539ENSTRUG00000009794aptx9959.292Takifugu_rubripes
ENSG00000137074APTX9369.767ENSTNIG00000010570aptx9860.882Tetraodon_nigroviridis
ENSG00000137074APTX9493.478ENSTBEG00000008504APTX9982.670Tupaia_belangeri
ENSG00000137074APTX9985.526ENSTTRG00000007384APTX9983.988Tursiops_truncatus
ENSG00000137074APTX10090.643ENSUAMG00000003700APTX10090.062Ursus_americanus
ENSG00000137074APTX10090.643ENSUMAG00000005837APTX10090.643Ursus_maritimus
ENSG00000137074APTX9590.909ENSVPAG00000001297APTX8091.304Vicugna_pacos
ENSG00000137074APTX9992.647ENSVVUG00000021130APTX9992.647Vulpes_vulpes
ENSG00000137074APTX9472.727ENSXETG00000024143aptx9962.000Xenopus_tropicalis
ENSG00000137074APTX9469.832ENSXCOG00000005020aptx9957.345Xiphophorus_couchianus
ENSG00000137074APTX9470.391ENSXMAG00000022086aptx9660.177Xiphophorus_maculatus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000012single strand break repair21873635.IBAProcess
GO:0000012single strand break repair17519253.IDAProcess
GO:0000785chromatin15044383.IDAComponent
GO:0000790nuclear chromatin20008512.IDAComponent
GO:0003682chromatin binding15044383.IDAFunction
GO:0003684damaged DNA binding14755728.IDAFunction
GO:0003690double-stranded DNA binding16547001.17276982.IDAFunction
GO:0003697single-stranded DNA binding21873635.IBAFunction
GO:0003725double-stranded RNA binding21873635.IBAFunction
GO:0003725double-stranded RNA binding16547001.IDAFunction
GO:0005515protein binding14755728.15044383.15380105.15555565.16439205.16713569.16777843.25416956.IPIFunction
GO:0005634nucleus21873635.IBAComponent
GO:0005634nucleus-IDAComponent
GO:0005654nucleoplasm15044383.16777843.IDAComponent
GO:0005730nucleolus15044383.16777843.IDAComponent
GO:0005737cytoplasm-IEAComponent
GO:0006266DNA ligation-IEAProcess
GO:0006302double-strand break repair21873635.IBAProcess
GO:0006974cellular response to DNA damage stimulus15044383.IMPProcess
GO:0008967phosphoglycolate phosphatase activity17519253.IDAFunction
GO:0016311dephosphorylation-IEAProcess
GO:0030983mismatched DNA binding21873635.IBAFunction
GO:0031647regulation of protein stability16777843.IMPProcess
GO:0033699DNA 5'-adenosine monophosphate hydrolase activity21873635.IBAFunction
GO:0033699DNA 5'-adenosine monophosphate hydrolase activity16547001.16964241.17276982.17519253.IDAFunction
GO:0042542response to hydrogen peroxide15044383.IDAProcess
GO:0046872metal ion binding-IEAFunction
GO:0047485protein N-terminus binding16777843.IPIFunction
GO:0051219phosphoprotein binding20008512.IPIFunction
GO:0090305nucleic acid phosphodiester bond hydrolysis-IEAProcess
GO:0120108DNA-3'-diphospho-5'-guanosine diphosphatase-IEAFunction
GO:1990165single-strand break-containing DNA binding21873635.IBAFunction

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