A6QLJ0

PR
Gene name
ERCC2
Protein name
General transcription and DNA repair factor IIH helicase subunit XPD
Names
TFIIH subunit XPD, CXPD, DNA excision repair protein ERCC-2, DNA repair protein complementing XP-D cells, Xeroderma pigmentosum group D-complementing protein
Species
Bos taurus (Bovine)
KEGG Pathway
bta:100125238
EC number
3.6.4.12: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

246-335 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for A6QLJ0

Entry ID Method Resolution Chain Position Source
AF-A6QLJ0-F1 Predicted AlphaFoldDB

239 variants for A6QLJ0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs457844001 8 L>R No EVA
rs434613944 37 H>Q No EVA
rs465955969 40 L>V No EVA
rs445814920 57 M>T No EVA
rs432468257 61 R>G No EVA
rs461704502 62 A>G No EVA
rs447874167 63 Y>D No EVA
rs458986403 66 E>A No EVA
rs438935498 67 V>G No EVA
rs470521521 74 S>W No EVA
rs463405784 76 T>A No EVA
rs443242406 76 T>N No EVA
rs474606717 77 V>G No EVA
rs454859841 78 P>A No EVA
rs479138342 92 S>G No EVA
rs449337191 92 S>R No EVA
rs459049545 95 E>A No EVA
rs445439136 104 F>L No EVA
rs483249738 108 A>P No EVA
rs463512558 109 L>P No EVA
rs481119629 111 S>P No EVA
rs460922627 113 K>T No EVA
rs440806302 114 N>T No EVA
rs442005496 127 G>E No EVA
rs453609746 133 K>E No EVA
rs471198765 153 P>S No EVA
rs457428066 159 E>Q No EVA
rs456300123 170 L>H No EVA
rs446689848 171 P>T No EVA
rs477866998 177 L>P No EVA
rs464363984 180 L>P No EVA
rs482383549 189 W>L No EVA
rs459326102 203 N>Y No EVA
rs439297749 205 V>A No EVA
rs439297749 205 V>G No EVA
rs463342271 207 Y>* No EVA
rs443178864 208 S>T No EVA
rs474936135 212 L>R No EVA
rs454801261 224 E>Q No EVA
rs472395234 233 F>S No EVA
rs441082425 233 F>V No EVA
rs452231772 236 A>P No EVA
rs432497525 239 I>T No EVA
rs453993488 240 D>E No EVA
rs433940928 241 N>S No EVA
rs433940928 241 N>T No EVA
rs451979549 242 V>F No EVA
rs438227102 242 V>G No EVA
rs467449355 243 C>* No EVA
rs436089213 243 C>F No EVA
rs449470167 243 C>G No EVA
rs449470167 243 C>R No EVA
rs436089213 243 C>S No EVA
rs436089213 243 C>Y No EVA
rs447307427 244 I>F No EVA
rs447307427 244 I>L No EVA
rs458821948 244 I>M No EVA
rs478650983 244 I>S No EVA
rs482944561 245 D>A No EVA
rs445135744 245 D>H No EVA
rs482944561 245 D>V No EVA
rs445135744 245 D>Y No EVA
rs462606362 246 S>A No EVA
rs462606362 246 S>P No EVA
rs474140913 247 M>R No EVA
rs460458895 248 S>G No EVA
rs460458895 248 S>R No EVA
rs471804426 248 S>R No EVA
rs440444021 248 S>T No EVA
rs444747897 249 V>A No EVA
rs444747897 249 V>D No EVA
rs451552672 249 V>F No EVA
rs451552672 249 V>I No EVA
rs451552672 249 V>L No EVA
rs455960856 250 N>H No EVA
rs435755973 250 N>I No EVA
rs435755973 250 N>T No EVA
rs453815130 251 L>P No EVA
rs467514774 251 L>V No EVA
rs433629717 252 T>P No EVA
rs464971058 255 T>A No EVA
rs444765099 257 D>E No EVA
rs482984230 261 A>S No EVA
rs469092838 264 E>* No EVA
rs449028241 265 T>P No EVA
rs460522039 267 Q>K No EVA
rs440500390 269 T>A No EVA
rs440500390 269 T>P No EVA
rs480283449 276 T>A No EVA
rs133947663 279 Q>R No EVA
rs453830814 283 E>A No EVA
rs121940728 350 V>G No EVA
rs470903095 374 F>C No EVA
rs439172331 374 F>L No EVA
rs439172331 374 F>V No EVA
rs457223514 387 E>A No EVA
rs443485668 387 E>D No EVA
rs474813171 388 I>M No EVA
rs454679938 398 T>P No EVA
rs434902339 409 T>P No EVA
rs445045495 414 F>L No EVA
rs482615916 415 T>P No EVA
rs482615916 415 T>S No EVA
rs462543029 417 I>S No EVA
rs480748621 418 I>M No EVA
rs442882683 418 I>V No EVA
rs460572447 419 E>G No EVA
rs440380810 424 R>S No EVA
rs472161112 425 T>P No EVA
rs452023782 429 A>P No EVA
rs473885646 436 S>R No EVA
rs516676519 447 V>A No EVA
rs445108422 455 I>F No EVA
rs462378003 465 D>H No EVA
rs442168245 466 I>L No EVA
rs473972838 467 Y>C No EVA
rs473972838 467 Y>F No EVA
rs453733427 470 I>N No EVA
rs471379256 472 D>G No EVA
rs451170705 474 H>P No EVA
rs437873390 480 T>P No EVA
rs469094917 480 T>S No EVA
rs435380325 482 T>P No EVA
rs467133424 485 L>V No EVA
rs446903658 487 R>L No EVA
rs458145300 488 V>D No EVA
rs478319713 488 V>L No EVA
rs450902673 490 L>P No EVA
rs462441660 491 C>F No EVA
rs482542271 491 C>G No EVA
rs482542271 491 C>R No EVA
rs442247425 493 M>I No EVA
rs458751103 494 I>V No EVA
rs439093143 499 N>S No EVA
rs476927744 500 D>G No EVA
rs456760326 502 V>G No EVA
rs474378585 503 A>G No EVA
rs465785900 506 S>C No EVA
rs445640797 507 K>N No EVA
rs470057831 508 F>L No EVA
rs432289678 508 F>V No EVA
rs449911328 509 E>D No EVA
rs460948154 511 R>W No EVA
rs447721042 512 E>V No EVA
rs478895136 513 D>G No EVA
rs458814747 514 I>N No EVA
rs477925544 540 T>P No EVA
rs464188407 542 Y>D No EVA
rs450382877 545 M>R No EVA
rs482218033 548 T>P No EVA
rs462045150 552 W>C No EVA
rs433774004 559 E>A No EVA
rs451793349 565 K>N No EVA
rs471535355 565 K>T No EVA
rs438056950 567 L>I No EVA
rs469399968 567 L>R No EVA
rs467263403 568 F>L No EVA
rs435915744 568 F>S No EVA
rs447054192 571 T>A No EVA
rs478460793 574 G>W No EVA
rs444957793 584 Y>S No EVA
rs457980743 587 A>T No EVA
rs444241467 589 E>G No EVA
rs475553151 590 N>T No EVA
rs455836671 593 G>R No EVA
rs442106331 594 A>P No EVA
rs473457444 595 I>L No EVA
rs453223016 597 L>R No EVA
rs433508699 598 S>P No EVA
rs464822327 600 A>T No EVA
rs457431303 601 R>L No EVA
rs468573498 605 S>T No EVA
rs448917487 607 G>E No EVA
rs466616503 609 D>G No EVA
rs480095610 609 D>H No EVA
rs480095610 609 D>Y No EVA
rs446396021 610 F>I No EVA
rs439328328 611 V>A No EVA
rs439328328 611 V>G No EVA
rs456981944 612 H>P No EVA
rs470681330 612 H>Y No EVA
rs436799053 613 H>L No EVA
rs436799053 613 H>P No EVA
rs468138601 614 Y>H No EVA
rs454767478 614 Y>S No EVA
rs434660218 617 A>G No EVA
rs445811960 619 I>L No EVA
rs477354016 619 I>M No EVA
rs470111544 621 F>L No EVA
rs450052144 623 V>E No EVA
rs450052144 623 V>G No EVA
rs481234706 625 Y>* No EVA
rs461322620 626 V>G No EVA
rs441520142 627 Y>N No EVA
rs479349737 628 T>N No EVA
rs459127898 633 L>R No EVA
rs438696754 639 Y>S No EVA
rs476304719 645 Q>H No EVA
rs456229828 646 I>N No EVA
rs473975967 648 E>* No EVA
rs454229517 648 E>V No EVA
rs465408562 650 D>A No EVA
rs465408562 650 D>V No EVA
rs434053069 650 D>Y No EVA
rs451716813 652 L>F No EVA
rs438366728 653 T>N No EVA
rs480866124 664 V>A No EVA
rs449560749 664 V>L No EVA
rs467109359 665 G>S No EVA
rs458415166 668 I>S No EVA
rs438364270 670 G>D No EVA
rs462700371 674 Y>D No EVA
rs442666707 675 G>V No EVA
rs453827797 677 M>R No EVA
rs440531991 678 V>A No EVA
rs440531991 678 V>G No EVA
rs451773970 680 A>P No EVA
rs438011513 681 D>V No EVA
rs469338468 682 K>N No EVA
rs475889878 686 R>G No EVA
rs462199640 688 D>E No EVA
rs441997176 689 K>M No EVA
rs473395802 689 K>N No EVA
rs453562043 690 R>W No EVA
rs433430691 692 K>Q No EVA
rs471044513 696 W>G No EVA
rs457367734 700 H>P No EVA
rs437705519 701 L>P No EVA
rs435190740 704 A>T No EVA
rs446731996 707 N>T No EVA
rs457971308 709 T>A No EVA
rs450714903 719 Y>* No EVA
rs476924981 721 L>R No EVA
rs462236511 723 Q>* No EVA
rs442080868 723 Q>P No EVA
rs461668082 732 D>A No EVA
rs447853353 737 S>P No EVA
rs460049454 746 S>P No EVA
rs459122064 753 I>V No EVA

No associated diseases with A6QLJ0

7 regional properties for A6QLJ0

Type Name Position InterPro Accession
domain DNA topoisomerase, type IA, domain 2 128 - 223 IPR003601
domain DNA topoisomerase, type IA, DNA-binding domain 289 - 567 IPR003602
domain TOPRIM domain 1 - 134 IPR006171
domain DNA topoisomerase, type IA, central 98 - 111 IPR013497-1
domain DNA topoisomerase, type IA, central 156 - 612 IPR013497-2
active_site DNA topoisomerase, type IA, active site 326 - 341 IPR023406
domain DNA topoisomerase 3-like, TOPRIM domain 1 - 149 IPR034144

Functions

Description
EC Number 3.6.4.12 Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
  • Nucleus
  • Cytoplasm, cytoskeleton, spindle
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
CAK-ERCC2 complex A protein complex formed by the association of the cyclin-dependent protein kinase activating kinase (CAK) holoenzyme complex with ERCC2.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
MMXD complex A protein complex that contains the proteins MMS19, MIP18 and XPD, localizes to mitotic spindle during mitosis, and is required for proper chromosome segregation.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
transcription factor TFIIH holo complex A complex that is capable of kinase activity directed towards the C-terminal Domain (CTD) of the largest subunit of RNA polymerase II and is essential for initiation at RNA polymerase II promoters in vitro. It is composed of the core TFIIH complex and the TFIIK complex.

8 GO annotations of molecular function

Name Definition
4 iron, 4 sulfur cluster binding Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands.
5'-3' DNA helicase activity Unwinding a DNA helix in the 5' to 3' direction, driven by ATP hydrolysis.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
damaged DNA binding Binding to damaged DNA.
DNA helicase activity Unwinding of a DNA helix, driven by ATP hydrolysis.
metal ion binding Binding to a metal ion.
protein C-terminus binding Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.

9 GO annotations of biological process

Name Definition
chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
hair cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a hair cell.
nucleotide-excision repair A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts).
nucleotide-excision repair, DNA duplex unwinding The unwinding, or local denaturation, of the DNA duplex to create a bubble around the site of the DNA damage.
nucleotide-excision repair, DNA incision A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound.
positive regulation of mitotic recombination Any process that activates or increases the frequency, rate or extent of DNA recombination during mitosis.
regulation of mitotic cell cycle phase transition Any process that modulates the frequency, rate or extent of mitotic cell cycle phase transition.
response to oxidative stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P06839 RAD3 General transcription and DNA repair factor IIH helicase subunit XPD Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P18074 ERCC2 General transcription and DNA repair factor IIH helicase subunit XPD Homo sapiens (Human) PR
O08811 Ercc2 General transcription and DNA repair factor IIH helicase subunit XPD Mus musculus (Mouse) PR
10 20 30 40 50 60
MKLNVDGLLV YFPYDYIYPE QFSYMLELKR TLDAKGHGVL EMPSGTGKTV SLLALIMAYQ
70 80 90 100 110 120
RAYPLEVTKL IYCSRTVPEI EKVIEELRKL LSFYEKQEGE KLPFLGLALS SRKNLCIHPE
130 140 150 160 170 180
VTPLRFGKDV DGKCHSLTAS YVRAQYQRDS SLPHCRFYEE FDVHGRQVPL PTGIYNLDDL
190 200 210 220 230 240
KAVGRRQGWC PYFLARYSIL HANVVVYSYH YLLDPKIADL VSKELARKAV VVFDEAHNID
250 260 270 280 290 300
NVCIDSMSVN LTRRTLDRCQ ANLETLQKTV LRIKETDEQR LREEYRRLVE GLREASAARE
310 320 330 340 350 360
TDAHLANPVL PDEVLKEAVP GSIRTAEHFL GFLRRLLEYV KWRLRVQHVV QESPPAFLSG
370 380 390 400 410 420
LAQRVCIQRK PLRFCAERLR SLLYTLEISD LTDFSPLTLL ANFATLVSTY AKGFTIIIEP
430 440 450 460 470 480
FDDRTPTIAN PILHFSCMDA SLAIKPVFER FQSVIITSGT LSPLDIYPKI LDFHPVTMAT
490 500 510 520 530 540
FTMTLARVCL CPMIIGRGND QVAISSKFET REDIAVIRNY GNLLLEMSAV VPDGIVAFFT
550 560 570 580 590 600
SYQYMESTVA SWYEQGILEN IQRNKLLFIE TQDGAETSVA LEKYQEACEN GRGAILLSVA
610 620 630 640 650 660
RGKVSEGIDF VHHYGRAVIM FGVPYVYTQS RILKARLEYL RDQFQIREND FLTFDAMRHA
670 680 690 700 710 720
AQCVGRAIRG KTDYGLMVFA DKRFARADKR GKLPRWIQEH LTDANLNLTV DEGVQVAKYF
730 740 750
LRQMAQPFHR EDQLGLSLLS LEQLESEETL RRIEQIAQQL