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NTHL1 (nth like DNA glycosylase 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4913
Gene nameGene Name - the full gene name approved by the HGNC.
Nth like DNA glycosylase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NTHL1
SynonymsGene synonyms aliases
FAP3, NTH1, OCTS3, hNTH1
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimid
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs146347092 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, stop gained
rs369076851 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs371328106 G>A,C,T Likely-benign, pathogenic Stop gained, coding sequence variant, intron variant, synonymous variant
rs372946560 C>T Pathogenic Splice donor variant
rs374489979 G>A,T Pathogenic Intron variant, synonymous variant, coding sequence variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT022743 hsa-miR-124-3p Proteomics 18668037
MIRT031740 hsa-miR-16-5p Proteomics 18668040
MIRT049546 hsa-miR-92a-3p CLASH 23622248
MIRT048860 hsa-miR-93-5p CLASH 23622248
MIRT1196056 hsa-miR-421 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000703 Function Oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity IBA 21873635
GO:0000703 Function Oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity TAS
GO:0003690 Function Double-stranded DNA binding IDA 15358233
GO:0003906 Function DNA-(apurinic or apyrimidinic site) endonuclease activity IBA 21873635
GO:0003906 Function DNA-(apurinic or apyrimidinic site) endonuclease activity IDA 8990169
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P78549
Protein name Endonuclease III-like protein 1 (hNTH1) (EC 3.2.2.-) (EC 4.2.99.18) (Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase) (DNA glycosylase/AP lyase)
Protein function Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage (PubMed:29610152, PubMed:9927
PDB 7RDS , 7RDT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00730 HhH-GPD
134 → 272
HhH-GPD superfamily base excision DNA repair protein
 Domain
PF00633 HHH
199 → 228
Helix-hairpin-helix motif
 Motif
Sequence 
MCSPQESGMTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRK
AQRLRVAYEGSDSEKGEGAEPLKVPVWEPQDWQQQLVNIRAMRNKKDAPVDHLGTEHCYD
SSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVG
FWRSKVKYIKQTSAILQQHYGGDIPASVAELVALPGVGPKMAHLAMAVAWGTVSGIAVDT
HVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHAC
LNQALCPAAQGL
Sequence length 312
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Base excision repair   Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1
Defective NTHL1 substrate processing
Defective NTHL1 substrate binding
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adenomatous polyposis FAMILIAL ADENOMATOUS POLYPOSIS 3, NTHL1-related attenuated familial adenomatous polyposis rs387906228, rs387906229, rs387906230, rs137854568, rs137854569, rs137854570, rs121913327, rs137854571, rs387906231, rs387906232, rs137854572, rs137854573, rs137854574, rs387906233, rs137854575, rs387906234, rs137854576, rs137854577, rs121913224, rs397509433, rs587776520, rs1801155, rs387906236, rs137854580, rs2229992, rs397514030, rs387906238, rs387906239, rs137854582, rs397514031, rs1554079996, rs137854583, rs34612342, rs36053993, rs146331482, rs121908380, rs121908381, rs587776701, rs730882193, rs200495564, rs397515732, rs397515734, rs397515735, rs79512956, rs74953290, rs587779352, rs587779353, rs398123116, rs398123117, rs398123118, rs398123120, rs398123121, rs398123122, rs587779780, rs587779786, rs587779790, rs587779794, rs587779798, rs587779803, rs62619935, rs587780078, rs587780082, rs587778541, rs587780088, rs587778536, rs587780749, rs587780751, rs587781295, rs138775799, rs587781330, rs587781337, rs587781338, rs140342925, rs587781392, rs587781451, rs587781628, rs587781694, rs587781704, rs587781809, rs587781864, rs587781910, rs587782293, rs587782303, rs587782305, rs587782518, rs587782557, rs529008617, rs587782730, rs587782885, rs587783029, rs587783030, rs587783031, rs587783033, rs587783035, rs587783057, rs730880250, rs730881833, rs143353451, rs730881832, rs376213437, rs730881228, rs730881240, rs730881273, rs864621967, rs730882135, rs768130289, rs374950566, rs786203115, rs34126013, rs776487884, rs747993448, rs786203161, rs777184451, rs372267274, rs786203213, rs765123255, rs748170941, rs786201291, rs775126020, rs786202995, rs786203020, rs786202348, rs786203760, rs786201801, rs786201118, rs786202276, rs786201134, rs786203024, rs768922431, rs786204118, rs559510809, rs786204169, rs786204170, rs794727160, rs121913332, rs863224502, rs863224501, rs863224452, rs863224458, rs863224820, rs863224459, rs863224455, rs863224817, rs121913333, rs863224457, rs863225327, rs863225335, rs863225355, rs863225361, rs863225362, rs863225364, rs863225365, rs863225366, rs863225370, rs863225371, rs863225372, rs863225307, rs863225308, rs863225309, rs863225310, rs863225311, rs863225313, rs863225314, rs863225316, rs863225317, rs863225318, rs863225319, rs863225321, rs863225322, rs863225328, rs863225330, rs863225331, rs863225332, rs863225333, rs863225336, rs863225337, rs863225338, rs863225340, rs863225341, rs863225342, rs863225343, rs863225344, rs863225345, rs863225347, rs863225348, rs863225351, rs863225352, rs756912930, rs863225356, rs863225357, rs863225358, rs863225359, rs863225363, rs863225367, rs863225368, rs863225369, rs755046558, rs372946560, rs587782228, rs864622086, rs864622106, rs864622228, rs869312753, rs876659420, rs876660774, rs876659414, rs876659676, rs376561094, rs762307622, rs876660787, rs876660190, rs876658941, rs876658846, rs876658325, rs876659973, rs876660765, rs876658538, rs876660802, rs876658868, rs876658811, rs876658858, rs876659452, rs761458613, rs876658355, rs876659517, rs876658214, rs876660130, rs876658472, rs876658724, rs876660265, rs876658667, rs876659539, rs876659647, rs876660454, rs754122018, rs876660665, rs876660174, rs876660816, rs876659280, rs878853217, rs878854186, rs376790729, rs878854193, rs878854189, rs878853428, rs878853444, rs878853451, rs878853459, rs878853419, rs878853420, rs878853422, rs878853426, rs878853432, rs878853436, rs121913331, rs878853438, rs878853449, rs758987855, rs878853454, rs878853458, rs752654519, rs879253783, rs879253784, rs879253785, rs773087549, rs879254169, rs879254087, rs863224281, rs879254088, rs879254090, rs879254032, rs879254091, rs879254092, rs879254089, rs879254226, rs879254155, rs886037878, rs751326348, rs866260675, rs886039606, rs886039625, rs886039642, rs886039507, rs886039508, rs886039509, rs886039618, rs886039682, rs886039641, rs886039638, rs886039687, rs879254110, rs886042600, rs886046367, rs1057517459, rs1057517456, rs1057517457, rs1057517559, rs1057517561, rs1057517553, rs1057517558, rs1057517544, rs1057517568, rs1057518901, rs121913462, rs121913328, rs121913329, rs121913326, rs74535574, rs1057520660, rs1060501324, rs1060501333, rs1060501346, rs1553129652, rs745921592, rs1060501321, rs766420907, rs781222233, rs1553123017, rs1060501325, rs1060501335, rs1060501336, rs1060503257, rs1060503334, rs1060503259, rs1060503336, rs1060503305, rs1060503321, rs1060503310, rs1060503327, rs1060503299, rs1060503372, rs1554083100, rs773020689, rs1060503328, rs1064792979, rs1060503333, rs1060503340, rs1064792977, rs1060503318, rs1060503282, rs1060503287, rs1060503362, rs1064792978, rs1064792980, rs1060503323, rs1060503261, rs1060503263, rs1060503366, rs768109346, rs1060503360, rs1060503307, rs1060503326, rs1060503355, rs1553124893, rs1064795480, rs1064793197, rs1064796630, rs746449748, rs1064795596, rs1064793020, rs1064794224, rs1064793021, rs1064793535, rs749479682, rs1064793022, rs1064794114, rs1064793530, rs1064794225, rs1064794163, rs1064794092, rs1064794226, rs1064793716, rs1554084266, rs199740875, rs1064794228, rs1064794042, rs1064794229, rs1064795475, rs1554086550, rs1064795688, rs1114167593, rs1114167546, rs1114167588, rs1114167550, rs141576417, rs387906237, rs1114167545, rs1114167558, rs1114167599, rs1114167594, rs1114167592, rs1114167580, rs1114167569, rs1114167597, rs1554083990, rs1114167559, rs1114167586, rs1114167582, rs1114167551, rs1114167589, rs1114167547, rs1114167614, rs1114167571, rs1114167544, rs1114167578, rs1114167568, rs1114167577, rs1114167596, rs1114167601, rs1114167606, rs1114167555, rs1131691137, rs1019221239, rs1131691136, rs1131691143, rs1131691139, rs1131691145, rs1131691144, rs1131691142, rs1131691555, rs1131691253, rs761468459, rs1554069549, rs1554069570, rs1554071521, rs1554071602, rs1554074738, rs1554074786, rs1554079128, rs1114167567, rs1554080070, rs1554080698, rs1554081906, rs772745309, rs1554083132, rs1254176854, rs75239284, rs1554085005, rs1064795228, rs1554085029, rs1554085053, rs1554085102, rs1554085227, rs1554085246, rs77056664, rs1554085382, rs1554085846, rs1060503288, rs1392778905, rs1554086084, rs1554086138, rs1554086196, rs1554087123, rs1305971005, rs1554080082, rs876658802, rs1554083888, rs764527706, rs1554088383, rs1554072547, rs1554076225, rs1554087314, rs769237459, rs1554080106, rs1554081631, rs1211642532, rs1554085992, rs774847203, rs1553125243, rs1553129638, rs761763725, rs1554069850, rs1554071494, rs1554074772, rs1554081669, rs1554081884, rs1554084375, rs1554084454, rs1554084553, rs1554084921, rs1554085373, rs1554086653, rs1554087023, rs748010172, rs1554081752, rs1554081762, rs1554082082, rs1554083862, rs1554084685, rs1554085714, rs1554086794, rs1554067124, rs1554074759, rs1326410920, rs1554076217, rs1554082091, rs1554084529, rs864622629, rs1114167617, rs1554084818, rs1554084945, rs1554085190, rs1554085429, rs1554087174, rs1554072562, rs1554074793, rs1554084318, rs1554085450, rs1554086212, rs1554086285, rs1554086694, rs1553125075, rs1553125622, rs1553127514, rs776362892, rs1553129521, rs1553128663, rs1553129676, rs370124822, rs199989617, rs1553130042, rs1553130185, rs767402084, rs1553136984, rs750508765, rs1554069481, rs1554080702, rs1554081629, rs1554080162, rs1554083227, rs1240024893, rs1554084079, rs1554084772, rs755806668, rs1554085560, rs1554085480, rs1554085654, rs1114167552, rs1554069524, rs1554086185, rs1554071529, rs1554087390, rs1554086340, rs1270783041, rs1554080036, rs1554081640, rs1554088391, rs1554088413, rs1554088600, rs1554088762, rs1554088206, rs1554082135, rs1554086015, rs1553129892, rs1554067164, rs786202584, rs1554084403, rs1554084848, rs1554076133, rs1554081934, rs1554084080, rs1554084511, rs1554084885, rs1554085084, rs1554085128, rs1554085131, rs1554086008, rs1554086363, rs1469278346, rs1554082118, rs1553129062, rs777848503, rs1554086262, rs1554083981, rs1554087379, rs1554086823, rs1553126848, rs1553127825, rs1553125677, rs1554084141, rs1554084575, rs147411334, rs1554085825, rs1554086974, rs1554084794, rs1554085081, rs1408646734, rs1554085850, rs1554067141, rs1554071617, rs752152148, rs1554080016, rs1554083205, rs1554081910, rs1554083898, rs1554084100, rs1554085303, rs1554086415, rs1554087036, rs1554086030, rs1554088359, rs1554083930, rs1553129349, rs1554069710, rs1554069831, rs1554081921, rs1554082100, rs1554083164, rs1554083941, rs1554084547, rs1554084712, rs1554085355, rs1554088313, rs1554088793, rs1173366565, rs745671590, rs1555492819, rs1554084531, rs1554085533, rs1554069828, rs1554081749, rs1554086854, rs1554086862, rs1553128813, rs768386527, rs1553125100, rs1553125766, rs1383826978, rs1561605508, rs558173961, rs1557485553, rs1338038953, rs1557474906, rs1561477658, rs1561542165, rs1561580546, rs1561590380, rs1561594547, rs1561599054, rs1561605385, rs372535376, rs1561577342, rs1561578684, rs1561581273, rs1561586671, rs1561602876, rs1561604514, rs1561610839, rs1561540666, rs863224535, rs1561568510, rs1561575998, rs1561576302, rs1561576308, rs1561577476, rs1561578889, rs1561587604, rs1561588104, rs1561619376, rs1561445097, rs1561553403, rs1561585111, rs1561585641, rs1561600715, rs1554081901, rs1561569140, rs1561576666, rs1561584336, rs1561606344, rs1557451154, rs1561464190, rs1561574581, rs1561574860, rs1561578229, rs1561485947, rs1561601114, rs146347092, rs1561545947, rs888691362, rs1557486313, rs1561583917, rs1561617778, rs1437789978, rs1570376147, rs1570406302, rs1570415363, rs1570443585, rs1570467133, rs1581160123, rs1580329260, rs1580359575, rs1580423534, rs1580423584, rs1580424314, rs1580511939, rs1580527839, rs1580528776, rs1580530177, rs1580530928, rs1580541855, rs1561553939, rs1580568839, rs1580569295, rs1580569744, rs1580603163, rs1580604238, rs1580616896, rs1580616970, rs1580617130, rs1580617162, rs1580617349, rs1580619588, rs1580621917, rs1580623468, rs1580623562, rs1580623656, rs1580624327, rs1580628041, rs1580631422, rs1580632210, rs1580632599, rs1580633796, rs1580640215, rs1580640872, rs1580641118, rs1580641874, rs1580642648, rs1580643026, rs1580645606, rs1554085679, rs1580646270, rs1580646613, rs1580646768, rs1580647642, rs1580648975, rs1580649145, rs1580649885, rs1580653360, rs1580653770, rs1580662647, rs1580663714, rs1580667434, rs1580668673, rs1580670427, rs1580672507, rs1415318567, rs1554087972, rs1580682528, rs1409414498, rs1580685528, rs1580686729, rs149350323, rs1580546655, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs1455445683, rs751236312, rs376667075, rs1580035033, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580066605, rs1580091499, rs1580091512, rs753029097, rs919177150, rs1198246754, rs1596220332, rs374489979, rs758667255, rs1596220478, rs371328106, rs759955745, rs763525759, rs201671098, rs1596223384, rs1570465624, rs1570346782, rs1580573837, rs1580603007, rs1450314617, rs1580027713, rs367544716, rs1580589463, rs1580053768, rs1580995904, rs779757251, rs1239874051, rs1411394625, rs749908882, rs1306473047, rs1580629061, rs1580565026, rs1580620655, rs1580645285, rs1580648665, rs1580035037, rs1580553607, rs1580564136, rs1580634573, rs745910470, rs1553127659, rs1570423722, rs1570433022, rs1581160030, rs1580328099, rs1580454483, rs770507436, rs1580569680, rs1580625739, rs1554084512, rs1580629755, rs1580631181, rs1580633219, rs1580634177, rs1580634617, rs1114167616, rs1580639836, rs1580641218, rs1321583762, rs1580650175, rs1580671859, rs1580672887, rs1580674179, rs1580678722, rs1580682001, rs1561618361, rs1580540688, rs1580546793, rs952650934, rs1234762807, rs1580556516, rs1580589397, rs1580027407, rs1314290585, rs1580358224, rs1580358296, rs1580516055, rs1580045730, rs1645371113, rs1645561773, rs1757571583, rs1757572270, rs1757573424, rs1758242304, rs1758244651, rs1758253391, rs1762417302, rs1762821346, rs1762865724, rs1387916046, rs1763785513, rs1764024038, rs1764704274, rs1765092962, rs1765170233, rs1554084195, rs1765224487, rs1554084587, rs1765316968, rs1765350227, rs1765368708, rs768123840, rs1580634079, rs1765409926, rs1765424969, rs1444797750, rs1765433827, rs1765452304, rs1554085199, rs1765534642, rs1765536690, rs1765584708, rs1765615722, rs1765673686, rs1765721326, rs1765760073, rs1561597691, rs1765870542, rs1766047961, rs1766105693, rs1766130383, rs1766588110, rs756190979, rs371356175, rs766997264, rs1749751715, rs772520703, rs1743353294, rs1379605717, rs776738086, rs770330684, rs1744356274, rs1290880136, rs1644886403, rs1744356530, rs1480047980, rs1744149615, rs550626088, rs1377633383, rs79630786 27720914, 26559593, 27329137, 25938944
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
Carcinoma Squamous cell carcinoma, Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Unknown
Disease name Disease term dbSNP ID References
Adenocarcinoma of duodenum Adenocarcinoma of duodenum
Bladder neoplasm Bladder Neoplasm
Hereditary cancer syndrome Neoplastic Syndromes, Hereditary
Intracranial meningioma Intracranial Meningioma

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