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ANKLE1 (ankyrin repeat and LEM domain containing 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
126549
Gene nameGene Name - the full gene name approved by the HGNC.
Ankyrin repeat and LEM domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ANKLE1
SynonymsGene synonyms aliases
ANKRD41, LEM3, LEMD6
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT606956 hsa-miR-8485 HITS-CLIP 19536157
MIRT606955 hsa-miR-329-3p HITS-CLIP 19536157
MIRT606954 hsa-miR-362-3p HITS-CLIP 19536157
MIRT606953 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT606952 hsa-miR-6756-3p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004519 Function Endonuclease activity IDA 22399800
GO:0005515 Function Protein binding IPI 22399800
GO:0005634 Component Nucleus IDA 22399800
GO:0005634 Component Nucleus IMP 27245214
GO:0005654 Component Nucleoplasm IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8NAG6
Protein name Ankyrin repeat and LEM domain-containing protein 1 (EC 3.1.-.-) (Ankyrin repeat domain-containing protein 41) (LEM-domain containing protein 3)
Protein function Endonuclease that probably plays a role in the DNA damage response and DNA repair.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2
11 106
Ankyrin repeats (3 copies)
Repeat
PF12796 Ank_2
54 137
Ankyrin repeats (3 copies)
Repeat
PF03020 LEM
357 394
LEM domain
Domain
Sequence
MCSEARLARRLRDALREEEPWAVEELLRCGADPNLVLEDGAAAVHLAAGARHPRGLRCLG
ALLRQGGDPNARSVEALTPLHVAAAWGCRRGLELLLSQGADPALRD
QDGLRPLDLALQQG
HLECARVLQDLDTRTRT
RTRIGAETQEPEPAPGTPGLSGPTDETLDSIALQKQPCRGDNR
DIGLEADPGPPSLPVPLETVDKHGSSASPPGHWDYSSDASFVTAVEVSGAEDPASDTPPW
AGSLPPTRQGLLHVVHANQRVPRSQGTEAELNARLQALTLTPPNAAGFQSSPSSMPLLDR
SPAHSPPRTPTPGASDCHCLWEHQTSIDSDMATLWLTEDEASSTGGREPVGPCRHLPVST
VSDLELLKGLRALGENPHPITPFTRQLYHQQLEE
AQIAPGPEFSGHSLELAAALRTGCIP
DVQADEDALAQQFEQPDPARRWREGVVKSSFTYLLLDPRETQDLPARAFSLTPAERLQTF
IRAIFYVGKGTRARPYVHLWEALGHHGRSRKQPHQACPKVRQILDIWASGCGVVSLHCFQ
HVVAVEAYTREACIVEALGIQTLTNQKQGHCYGVVAGWPPARRRRLGVHLLHRALLVFLA
EGERQLHPQDIQARG
Sequence length 615
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243 22976474, 20852631
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683, 27117709, 22976474
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393 20852633
Triple negative breast neoplasms Triple Negative Breast Neoplasms rs80357691, rs863225441 24325915
Unknown
Disease name Disease term dbSNP ID References
Ovarian neoplasm ovarian neoplasm 20852633

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