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Basic Information Integrated Annotations

Tag Content
UUCD2 ID IUUC-Hsa-046608
Ensembl Protein ID ENSP00000361310.4
UniProt Accession Q9Y253; Q7L8E3; Q96BC4; Q9BX13; POLH_HUMAN
Genbank Protein ID BAA81666.1; AAD43810.1; BAB18601.1; AAQ81300.1; CAI12786.1; CAI12786.1; CAI12787.1; CAI12787.1; CAI42641.1; CAI42641.1; CAI42642.1; CAI42642.1; AAH15742.1
Protein Name DNA polymerase eta; RAD30 homolog A; Xeroderma pigmentosum variant type protein
Genbank Nucleotide ID AB024313; AF158185; AB038008; AY388614; AL353602; AL355802; AL353602; AL355802; AL355802; AL353602; AL355802; AL353602; BC015742
Gene Name POLH; RAD30; RAD30A; XPV
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000170734.11 ENST00000372236.8 ENSP00000361310.4
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
TargetScanRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDHINTMentha
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMBioGRIDmUbiSiDa
DNA Methylation
MethyCancerTCGAICGC
Protein Expression/Proteomics
THPAGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/ZnF/UBZ UBZ 16357261; 17251197; 17304240; 23076824
Classification
Family E-value Score Start End
UBD/ZnF/UBZ 4.10e-07 31.8 632 655
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   UBD/ZnF/UBZ

   S: 1    llvCPvCqkmvdqtdfeeHlDeCl 24
    +++C++C++ v+++d++eH+D+++
   Q: 632 QVPCEKCGSLVPVWDMPEHMDYHF 655
    699********************8 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5'-deoxyribose phosphate (5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586).
DNA polymerase specifically involved in the DNA repair by translesion synthesis (TLS) (PubMed:10385124, PubMed:11743006, PubMed:24449906). Due to low processivity on both damaged and normal DNA, cooperates with the heterotetrameric (REV3L, REV7, POLD2 and POLD3) POLZ complex for complete bypass of DNA lesions. Inserts one or 2 nucleotide(s) opposite the lesion, the primer is further extended by the tetrameric POLZ complex. In the case of 1,2-intrastrand d(GpG)-cisplatin cross-link, inserts dCTP opposite the 3' guanine (PubMed:24449906). Particularly important for the repair of UV-induced pyrimidine dimers (PubMed:10385124, PubMed:11743006). Although inserts the correct base, may cause base transitions and transversions depending upon the context. May play a role in hypermutation at immunoglobulin genes (PubMed:11376341, PubMed:14734526). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have any lyase activity, preventing the release of the 5'-deoxyribose phosphate (5'-dRP) residue. This covalent trapping of the enzyme by the 5'-dRP residue inhibits its DNA synthetic activity during base excision repair, thereby avoiding high incidence of mutagenesis (PubMed:14630940). Targets POLI to replication foci (PubMed:12606586).
Protein Sequence
(Fasta)
MATGQDRVVA LVDMDCFFVQ VEQRQNPHLR NKPCAVVQYK SWKGGGIIAV SYEARAFGVT 60
RSMWADDAKK LCPDLLLAQV RESRGKANLT KYREASVEVM EIMSRFAVIE RASIDEAYVD 120
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Protein Fasta Sequence



>IUUC-Hsa-046608|UBD,UBZ|Homo sapiens
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Nucleotide Sequence
(Fasta)
AACGGCCCTT CGCAGCGGGC GCGCTGTCAG ACCTCAGTCT GGCGGCTGCA TTGCTGGGCG 60
CGCCGCTCTC GTCTGATCCC TGCTGGGGAC GGTTGCCCGG GCAGGATCCT TTACGATCCC 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046608|UBD,UBZ|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0903--Direct protein sequencing
KW-0225--Disease mutation
KW-0227--DNA damage
KW-0234--DNA repair
KW-0235--DNA replication
KW-0237--DNA synthesis
KW-0238--DNA-binding
KW-0239--DNA-directed DNA polymerase
KW-1017--Isopeptide bond
KW-0460--Magnesium
KW-0479--Metal-binding
KW-0515--Mutator protein
KW-0548--Nucleotidyltransferase
KW-0539--Nucleus
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0704--Schiff base
KW-0808--Transferase
KW-0832--Ubl conjugation
KW-0857--Xeroderma pigmentosum

Interpro

IPR017061--DNA_pol_eta/kappa
IPR017961--DNA_pol_Y-fam_little_finger
IPR001126--UmuC

PROSITE

PS50173--UMUC

Pfam

PF00817--IMS
PF11799--IMS_C

Gene Ontology

GO:0005829--C:cytosol
GO:0005654--C:nucleoplasm
GO:0003684--F:damaged DNA binding
GO:0003887--F:DNA-directed DNA polymerase activity
GO:0046872--F:metal ion binding
GO:0071494--P:cellular response to UV-C
GO:0006281--P:DNA repair
GO:0006260--P:DNA replication
GO:0000731--P:DNA synthesis involved in DNA repair
GO:0070987--P:error-free translesion synthesis
GO:0006290--P:pyrimidine dimer repair
GO:0006282--P:regulation of DNA repair
GO:0010225--P:response to UV-C
GO:0019985--P:translesion synthesis

KEGG hsa:5429
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Ata-000901 Aegilops tauschii 44.38 2.00e-77 282.00
IUUC-Aml-001521 Ailuropoda melanoleuca 85.83 0.00e+00 1202.00
IUUC-Atr-002484 Amborella trichopoda 41.04 5.00e-92 332.00
IUUC-Apl-003696 Anas platyrhynchos 47.82 4.00e-113 402.00
IUUC-Aca-005058 Anolis carolinensis 54.60 0.00e+00 717.00
IUUC-Aly-006400 Arabidopsis lyrata 41.25 1.00e-86 313.00
IUUC-Ath-007504 Arabidopsis thaliana 41.24 2.00e-93 337.00
IUUC-Ago-007927 Ashbya gossypii 25.06 3.00e-24 106.00
IUUC-Acl-008115 Aspergillus clavatus 30.71 2.00e-43 170.00
IUUC-Afl-008392 Aspergillus flavus 31.99 3.00e-47 183.00
IUUC-Afu-008955 Aspergillus fumigatus 30.48 1.00e-43 171.00
IUUC-Ani-009140 Aspergillus nidulans 29.57 2.00e-42 167.00
IUUC-Ang-009579 Aspergillus niger 31.47 8.00e-42 165.00
IUUC-Aor-010144 Aspergillus oryzae 31.74 1.00e-46 181.00
IUUC-Ate-010589 Aspergillus terreus 32.49 5.00e-48 186.00
IUUC-Ame-010824 Astyanax mexicanus 52.23 0.00e+00 658.00
IUUC-Bgr-012128 Blumeria graminis 30.32 8.00e-43 168.00
IUUC-Bta-013570 Bos taurus 82.61 0.00e+00 1103.00
IUUC-Bci-013638 Botrytis cinerea 30.91 7.00e-46 179.00
IUUC-Bdi-014945 Brachypodium distachyon 43.21 7.00e-90 325.00
IUUC-Bol-016267 Brassica oleracea 43.10 6.00e-90 325.00
IUUC-Bra-017812 Brassica rapa 42.32 2.00e-87 317.00
IUUC-Cel-018475 Caenorhabditis elegans 36.11 1.00e-74 273.00
IUUC-Cja-019783 Callithrix jacchus 92.93 0.00e+00 1165.00
IUUC-Cfa-021182 Canis familiaris 86.87 0.00e+00 1135.00
IUUC-Cpo-021579 Cavia porcellus 82.35 0.00e+00 1129.00
IUUC-Csa-023918 Chlorocebus sabaeus 96.63 0.00e+00 1316.00
IUUC-Cho-024661 Choloepus hoffmanni 86.13 0.00e+00 1199.00
IUUC-Cin-025717 Ciona intestinalis 50.68 4.00e-79 288.00
IUUC-Csv-026134 Ciona savignyi 55.77 1.00e-46 178.00
IUUC-Cgl-026574 Colletotrichum gloeosporioides 28.99 3.00e-34 140.00
IUUC-Cne-026787 Cryptococcus neoformans 28.10 6.00e-31 129.00
IUUC-Cme-027172 Cyanidioschyzon merolae 27.87 6.00e-29 122.00
IUUC-Dre-028594 Danio rerio 48.27 4.00e-178 618.00
IUUC-Dno-029221 Dasypus novemcinctus 86.29 0.00e+00 1182.00
IUUC-Dor-030818 Dipodomys ordii 90.00 2.00e-119 423.00
IUUC-Dse-031223 Dothistroma septosporum 29.09 5.00e-37 149.00
IUUC-Dme-031727 Drosophila melanogaster 39.75 2.00e-100 360.00
IUUC-Ete-033036 Echinops telfairi 79.47 0.00e+00 1052.00
IUUC-Eca-034307 Equus caballus 83.47 0.00e+00 1063.00
IUUC-Eeu-035197 Erinaceus europaeus 72.79 4.00e-158 551.00
IUUC-Fca-035449 Felis catus 87.38 0.00e+00 1141.00
IUUC-Fal-036901 Ficedula albicollis 59.94 1.00e-96 347.00
IUUC-Fox-037911 Fusarium oxysporum 29.85 4.00e-42 166.00
IUUC-Fso-038351 Fusarium solani 30.05 1.00e-37 151.00
IUUC-Gmo-039408 Gadus morhua 49.38 0.00e+00 632.00
IUUC-Ggr-039856 Gaeumannomyces graminis 30.23 5.00e-36 146.00
IUUC-Gga-040686 Gallus gallus 52.98 1.00e-171 596.00
IUUC-Gac-042191 Gasterosteus aculeatus 61.09 3.00e-175 608.00
IUUC-Gma-043642 Glycine max 41.76 8.00e-90 325.00
IUUC-Hvu-047627 Hordeum vulgare 41.20 1.00e-90 327.00
IUUC-Itr-048689 Ictidomys tridecemlineatus 85.24 0.00e+00 1171.00
IUUC-Kpa-049113 Komagataella pastoris 25.91 2.00e-25 110.00
IUUC-Lch-049987 Latimeria chalumnae 70.40 9.00e-91 328.00
IUUC-Lpe-051542 Leersia perrieri 41.05 6.00e-91 328.00
IUUC-Loc-052036 Lepisosteus oculatus 50.44 3.00e-167 582.00
IUUC-Lma-053317 Leptosphaeria maculans 30.61 5.00e-42 166.00
IUUC-Laf-053792 Loxodonta africana 84.11 0.00e+00 1165.00
IUUC-Mcc-055144 Macaca mulatta 98.31 0.00e+00 820.00
IUUC-Meu-056553 Macropus eugenii 75.27 4.00e-150 524.00
IUUC-Mor-057207 Magnaporthe oryzae 28.76 5.00e-37 149.00
IUUC-Mpo-057497 Magnaporthe poae 29.66 4.00e-37 150.00
IUUC-Mtr-058741 Medicago truncatula 43.89 5.00e-94 338.00
IUUC-Mla-059160 Melampsora laricipopulina 30.67 2.00e-41 163.00
IUUC-Mga-059487 Meleagris gallopavo 47.23 1.00e-126 446.00
IUUC-Mvi-060508 Microbotryum violaceum 29.52 6.00e-40 159.00
IUUC-Mmr-061610 Microcebus murinus 88.08 0.00e+00 1209.00
IUUC-Mdo-061810 Monodelphis domestica 68.36 0.00e+00 883.00
IUUC-Mmu-063400 Mus musculus 78.58 0.00e+00 987.00
IUUC-Mac-064894 Musa acuminata 39.69 2.00e-89 323.00
IUUC-Mpu-066225 Mustela putorius furo 85.10 0.00e+00 1083.00
IUUC-Mlu-067052 Myotis lucifugus 88.08 0.00e+00 1172.00
IUUC-Nfi-068296 Neosartorya fischeri 29.97 3.00e-42 167.00
IUUC-Ncr-068957 Neurospora crassa 31.83 4.00e-45 176.00
IUUC-Nle-069730 Nomascus leucogenys 94.25 0.00e+00 1237.00
IUUC-Opr-070411 Ochotona princeps 69.16 0.00e+00 652.00
IUUC-Ont-071788 Oreochromis niloticus 64.78 0.00e+00 627.00
IUUC-Oan-073017 Ornithorhynchus anatinus 69.70 0.00e+00 738.00
IUUC-Ocu-074059 Oryctolagus cuniculus 76.30 0.00e+00 979.00
IUUC-Oba-075708 Oryza barthii 41.27 2.00e-91 330.00
IUUC-Obr-076475 Oryza brachyantha 40.51 2.00e-89 323.00
IUUC-Ogl-077868 Oryza glaberrima 41.27 2.00e-91 330.00
IUUC-Ogu-078157 Oryza glumaepatula 41.45 2.00e-91 330.00
IUUC-Oin-079707 Oryza indica 45.01 2.00e-78 286.00
IUUC-Olo-080763 Oryza longistaminata 44.82 1.00e-88 320.00
IUUC-Oni-082290 Oryza nivara 40.29 1.00e-89 323.00
IUUC-Opu-083795 Oryza punctata 41.31 2.00e-90 326.00
IUUC-Oru-085178 Oryza rufipogon 40.89 1.00e-91 330.00
IUUC-Osa-086176 Oryza sativa 41.10 9.00e-92 331.00
IUUC-Ola-087517 Oryzias latipes 51.64 0.00e+00 666.00
IUUC-Olu-087640 Ostreococcus lucimarinus 32.30 3.00e-56 213.00
IUUC-Oga-088142 Otolemur garnettii 85.88 0.00e+00 1164.00
IUUC-Oar-089974 Ovis aries 82.47 0.00e+00 1062.00
IUUC-Ptr-090591 Pan troglodytes 99.72 0.00e+00 1308.00
IUUC-Pan-091688 Papio anubis 96.77 0.00e+00 1318.00
IUUC-Psi-092952 Pelodiscus sinensis 51.87 2.00e-167 582.00
IUUC-Pma-094704 Petromyzon marinus 35.60 8.00e-41 161.00
IUUC-Pno-094892 Phaeosphaeria nodorum 30.58 4.00e-39 156.00
IUUC-Ppa-095504 Physcomitrella patens 45.50 2.00e-84 306.00
IUUC-Pfo-096999 Poecilia formosa 64.60 6.00e-171 594.00
IUUC-Pab-098195 Pongo abelii 97.57 0.00e+00 880.00
IUUC-Pop-099023 Populus trichocarpa 41.92 4.00e-90 325.00
IUUC-Pca-100689 Procavia capensis 79.25 0.00e+00 848.00
IUUC-Ppe-101947 Prunus persica 41.94 1.00e-91 330.00
IUUC-Pva-102392 Pteropus vampyrus 87.38 0.00e+00 1162.00
IUUC-Pgr-103588 Puccinia graminis 32.66 6.00e-44 172.00
IUUC-Ptt-103860 Puccinia triticina 31.01 2.00e-36 147.00
IUUC-Pte-104326 Pyrenophora teres 29.60 5.00e-40 159.00
IUUC-Pyt-104573 Pyrenophora triticirepentis 29.55 8.00e-40 158.00
IUUC-Rno-105209 Rattus norvegicus 77.28 0.00e+00 1045.00
IUUC-Sce-106137 Saccharomyces cerevisiae 23.11 6.00e-22 99.40
IUUC-Sha-106467 Sarcophilus harrisii 69.53 0.00e+00 904.00
IUUC-Sja-107701 Schizosaccharomyces japonicus 30.05 1.00e-33 139.00
IUUC-Spo-108204 Schizosaccharomyces pombe 30.32 7.00e-39 155.00
IUUC-Ssl-108431 Sclerotinia sclerotiorum 31.34 7.00e-38 152.00
IUUC-Smo-109015 Selaginella moellendorffii 46.03 1.00e-78 286.00
IUUC-Sit-110280 Setaria italica 42.60 2.00e-94 340.00
IUUC-Sly-111756 Solanum lycopersicum 40.98 2.00e-90 326.00
IUUC-Stu-112504 Solanum tuberosum 42.90 1.00e-64 239.00
IUUC-Sar-113088 Sorex araneus 69.85 0.00e+00 905.00
IUUC-Sbi-114731 Sorghum bicolor 42.60 3.00e-94 339.00
IUUC-Sre-115144 Sporisorium reilianum 35.29 5.00e-22 100.00
IUUC-Ssc-115300 Sus scrofa 81.63 0.00e+00 1092.00
IUUC-Tgu-117128 Taeniopygia guttata 68.16 5.00e-86 310.00
IUUC-Tru-118550 Takifugu rubripes 52.05 0.00e+00 671.00
IUUC-Tni-120908 Tetraodon nigroviridis 50.88 0.00e+00 668.00
IUUC-Tca-121449 Theobroma cacao 44.53 5.00e-91 328.00
IUUC-Tre-122135 Trichoderma reesei 30.59 5.00e-39 155.00
IUUC-Tvi-122467 Trichoderma virens 30.32 9.00e-40 158.00
IUUC-Tae-125677 Triticum aestivum 37.43 6.00e-90 325.00
IUUC-Tur-126600 Triticum urartu 40.50 1.00e-82 301.00
IUUC-Tme-126967 Tuber melanosporum 33.60 4.00e-45 176.00
IUUC-Tbe-127444 Tupaia belangeri 84.99 0.00e+00 1162.00
IUUC-Ttr-128797 Tursiops truncatus 85.41 0.00e+00 1089.00
IUUC-Uma-129609 Ustilago maydis 33.73 9.00e-21 95.90
IUUC-Vda-130004 Verticillium dahliae 29.79 2.00e-40 160.00
IUUC-Vpa-130029 Vicugna pacos 89.47 1.00e-162 566.00
IUUC-Vvi-131117 Vitis vinifera 41.77 1.00e-82 301.00
IUUC-Xma-133279 Xiphophorus maculatus 50.62 0.00e+00 652.00
IUUC-Yli-134477 Yarrowia lipolytica 28.39 7.00e-25 108.00
IUUC-Zma-135837 Zea mays 42.31 5.00e-95 342.00
Created Date 25-Jun-2017

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