POLH (DNA polymerase eta)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5429 |
Gene nameGene Name - the full gene name approved by the HGNC.
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DNA polymerase eta |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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POLH |
SynonymsGene synonyms aliases
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RAD30, RAD30A, XP-V, XPV |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p21.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymeras |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs56307355 |
A>C,G |
Benign, likely-pathogenic |
3 prime UTR variant, coding sequence variant, missense variant |
rs121908562 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs121908563 |
C>T |
Pathogenic |
5 prime UTR variant, intron variant, coding sequence variant, stop gained |
rs121908564 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs121908565 |
A>C |
Pathogenic |
Missense variant, 3 prime UTR variant, coding sequence variant |
rs745778317 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
rs752080248 |
->T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
rs759607901 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs767433001 |
G>T |
Likely-pathogenic |
Intron variant, 5 prime UTR variant, coding sequence variant, stop gained |
rs772570523 |
G>A |
Pathogenic |
Splice donor variant |
rs886039225 |
A>- |
Pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant |
rs1176350430 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
rs1426687865 |
TCT>- |
Pathogenic |
5 prime UTR variant, inframe deletion, coding sequence variant |
rs1554140189 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554141842 |
ATCAC>- |
Pathogenic |
3 prime UTR variant, terminator codon variant, coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
IRF1 |
Unknown |
22367195 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q9Y253 |
Protein name |
DNA polymerase eta (EC 2.7.7.7) (RAD30 homolog A) (Xeroderma pigmentosum variant type protein) |
Protein function |
DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:16357261, PubMed:24449906, PubMed:24553286, PubMed:38212351). Due to low processivity on both damaged and normal DNA, |
PDB |
2I5O
,
2LSK
,
3JAA
,
3MR2
,
3MR3
,
3MR5
,
3MR6
,
3SI8
,
3TQ1
,
3WUP
,
4DL2
,
4DL3
,
4DL4
,
4DL5
,
4DL6
,
4DL7
,
4ECQ
,
4ECR
,
4ECS
,
4ECT
,
4ECU
,
4ECV
,
4ECW
,
4ECX
,
4ECY
,
4ECZ
,
4ED0
,
4ED1
,
4ED2
,
4ED3
,
4ED6
,
4ED7
,
4ED8
,
4EEY
,
4J9K
,
4J9L
,
4J9M
,
4J9N
,
4J9O
,
4J9P
,
4J9Q
,
4J9R
,
4J9S
,
4O3N
,
4O3O
,
4O3P
,
4O3Q
,
4O3R
,
4O3S
,
4Q8E
,
4Q8F
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00817 |
IMS |
12 → 228 |
impB/mucB/samB family |
Family |
PF11799 |
IMS_C |
309 → 439 |
impB/mucB/samB family C-terminal domain |
Domain |
PF18439 |
zf_UBZ |
631 → 662 |
Ubiquitin-Binding Zinc Finger |
Domain |
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Sequence |
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Sequence length |
713 |
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.
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Associated diseases
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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 |
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Carcinoma |
Squamous cell carcinoma, Carcinoma, Basal Cell |
rs121912654, rs555607708, rs786202962, rs1564055259 |
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Keratitis |
Keratitis |
rs587776571 |
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Melanoma |
melanoma, Cutaneous Melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 |
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Xeroderma pigmentosum |
Xeroderma Pigmentosum, Xeroderma pigmentosum, variant form, Xeroderma pigmentosum, variant type, Xeroderma pigmentosum variant |
rs794729654, rs794729655, rs752088918, rs121965088, rs794729656, rs794729657, rs754532049, rs1200172747, rs104894132, rs104894133, rs104894134, rs1587755557, rs2127773185, rs2127773120, rs121908562, rs121908563, rs121908564, rs2127799895, rs1176350430, rs1426687865, rs121434639, rs121434640, rs121434641, rs121434642, rs121434570, rs121434571, rs121434572, rs121434573, rs121434574, rs121434575, rs786200919, rs786200920, rs752661599, rs121434577, rs869025184, rs200733704, rs121913045, rs121913047, rs866379139, rs121913048, rs1558964705, rs121913017, rs121913018, rs121913019, rs121913020, rs121913024, rs2123229159, rs121913025, rs41556519, rs267607281, rs267607280, rs397509401, rs397509403, rs147105770, rs587778271, rs144564120, rs587778281, rs786205206, rs754673606, rs767569346, rs201940931, rs786205205, rs869025275, rs772570523, rs759607901, rs767433001, rs745778317, rs750218942, rs758439420, rs34295337, rs3731139, rs1450238352, rs1696343406, rs1828741490, rs1828818571, rs201127596, rs376556895, rs370454709, rs1057519018, rs762309206, rs757958943, rs1233791234, rs755825264, rs374117852, rs1283214655, rs1244074570, rs778543124, rs1564045331, rs759052378, rs1553604559, rs1553605497, rs1553605813, rs975121308, rs1553606979, rs1330667099, rs1553604620, rs1553605023, rs1553605973, rs1553604549, rs1553604552, rs1208223013, rs1281090187, rs1553607773, rs770308917, rs1423398589, rs1553604570, rs1309116467, rs1553605655, rs1553605761, rs754197041, rs754775337, rs1553605871, rs373519125, rs764321665, rs1326646197, rs1553607144, rs764480429, rs1402162002, rs752030576, rs1553607419, rs746250060, rs1553605795, rs1553607744, rs1553608616, rs1553605805, rs1553605894, rs867461743, rs745679643, rs1553608637, rs763678756, rs1228981894, rs1260189637, rs1554699296, rs1554701103, rs764582394, rs1554701129, rs755803064, rs1554701152, rs1554701540, rs748286715, rs1019535182, rs761978351, rs149226993, rs1554701144, rs1554701478, rs1554701481, rs746617574, rs1554701488, rs1326841833, rs781195170, rs1240801740, rs1451780491, rs1554702597, rs1554702629, rs1554699334, rs1554701520, rs1554701563, rs1554701931, rs769255883, rs1554703119, rs1554703183, rs1253496792, rs752573039, rs1554701139, rs1554701532, rs1554702608, rs1559374923, rs750123656, rs138385061, rs964247601, rs1568546252, rs1568546120, rs752080248, rs746795177, rs151235136, rs1574950526, rs1336484333, rs777455688, rs1404157087, rs1404293670, rs1595382501, rs1574972784, rs1559369237, rs756967163 |
22745795, 24130121, 30511002, 26884178, 24130121, 17015482, 11032022, 11773631, 10398605, 17344931, 10385124, 27004399, 18368133, 16397220, 25128761, 11121129, 24105368, 18703314, 23651273 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Conjunctivitis |
Conjunctivitis |
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Ectropion |
Ectropion |
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Entropion |
Entropion |
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Hypopigmentation disorder |
Hypopigmentation disorder |
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Poikiloderma |
Poikiloderma |
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