UniProtKB - Q01831 (XPC_HUMAN)
DNA repair protein complementing XP-C cells
XPC
Functioni
Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex (PubMed:10734143, PubMed:19609301, PubMed:20649465, PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892).
Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides (PubMed:10734143, PubMed:19609301, PubMed:20649465).
This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity (PubMed:10734143, PubMed:19609301, PubMed:20649465).
The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892).
The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892).
The orientation of XPC complex binding appears to be crucial for inducing a productive NER (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892).
XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892).
Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair (PubMed:9734359, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892).
In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts (PubMed:20028083).
XPC:RAD23B contacts DNA both 5' and 3' of a cisplatin lesion with a preference for the 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1 (PubMed:20028083).
10 PublicationsIn absence of DNA repair, the XPC complex also acts as a transcription coactivator: XPC interacts with the DNA-binding transcription factor E2F1 at a subset of promoters to recruit KAT2A and histone acetyltransferase complexes (HAT) (PubMed:29973595, PubMed:31527837).
KAT2A recruitment specifically promotes acetylation of histone variant H2A.Z.1/H2A.Z, but not H2A.Z.2/H2A.V, thereby promoting expression of target genes (PubMed:31527837).
2 PublicationsGO - Molecular functioni
- bubble DNA binding Source: UniProtKB
- damaged DNA binding Source: UniProtKB
- DNA damage sensor activity Source: GO_Central
- heteroduplex DNA loop binding Source: UniProtKB
- protein-containing complex binding Source: UniProtKB
- single-stranded DNA binding Source: UniProtKB
- transcription coactivator activity Source: UniProtKB
GO - Biological processi
- DNA repair Source: ProtInc
- mismatch repair Source: GO_Central
- mitotic intra-S DNA damage checkpoint signaling Source: Ensembl
- nucleotide-excision repair Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- pyrimidine dimer repair by nucleotide-excision repair Source: Ensembl
- regulation of mitotic cell cycle phase transition Source: UniProtKB
- response to auditory stimulus Source: Ensembl
- response to UV-B Source: Ensembl
- response to xenobiotic stimulus Source: Ensembl
- UV-damage excision repair Source: CACAO
- UV-damage excision repair, DNA incision Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | DNA damage, DNA repair, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q01831 |
Reactomei | R-HSA-3108214, SUMOylation of DNA damage response and repair proteins R-HSA-5696394, DNA Damage Recognition in GG-NER R-HSA-5696395, Formation of Incision Complex in GG-NER |
SignaLinki | Q01831 |
SIGNORi | Q01831 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA repair protein complementing XP-C cellsAlternative name(s): Xeroderma pigmentosum group C-complementing protein p125 |
Gene namesi | Name:XPC Synonyms:XPCC |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12816, XPC |
MIMi | 613208, gene |
neXtProti | NX_Q01831 |
VEuPathDBi | HostDB:ENSG00000154767 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Nucleus
- Nucleus 3 Publications
Other locations
- Chromosome 1 Publication
Note: Omnipresent in the nucleus and consistently associates with and dissociates from DNA in the absence of DNA damage (PubMed:18682493). Continuously shuttles between the cytoplasm and the nucleus, which is impeded by the presence of NER lesions (PubMed:18682493).1 Publication
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrion Source: HPA
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleotide-excision repair complex Source: UniProtKB
- nucleotide-excision repair factor 2 complex Source: GO_Central
- nucleus Source: UniProtKB
- XPC complex Source: UniProtKB
Plasma Membrane
- plasma membrane Source: HPA
Other locations
- cytoplasm Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
- site of DNA damage Source: Ensembl
Keywords - Cellular componenti
Chromosome, Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Xeroderma pigmentosum complementation group C (XP-C)7 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005846 | 334 | P → H in XP-C; severe; does not affect interaction with KAT2A and transcription coactivator activity in absence of DNA damage. 2 PublicationsCorresponds to variant dbSNP:rs74737358EnsemblClinVar. | 1 | |
Natural variantiVAR_064039 | 690 | W → S in XP-C; diminishes repair activity and impairs DNA binding. 4 Publications | 1 | |
Natural variantiVAR_005847 | 697 | V → VV in XP-C; mild. 1 Publication | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 531 | W → A: Slightly diminishes repair activity and slightly impairs DNA binding. 1 Publication | 1 | |
Mutagenesisi | 542 | W → A: Slightly diminishes repair activity and slightly impairs DNA binding. 1 Publication | 1 | |
Mutagenesisi | 733 | F → A: Diminishes repair activity and impairs DNA binding. 2 Publications | 1 | |
Mutagenesisi | 754 | N → A: Reduces DNA repair activity; abolishes single-stranded DNA binding; reduces binding to homoduplex DNA; reduces localization at DNA damaged foci. 1 Publication | 1 | |
Mutagenesisi | 755 | E → K: Reduces nuclear mobility and impairs repair activity. 1 Publication | 1 | |
Mutagenesisi | 756 | F → A: Reduces DNA repair activity; abolishes single-stranded DNA binding; reduces binding to homoduplex DNA; reduces localization at DNA damaged foci. 1 Publication | 1 | |
Mutagenesisi | 797 | F → A: Reduces DNA repair activity; abolishes single-stranded DNA binding; reduces binding to homoduplex DNA; reduces localization at DNA damaged foci; decreases recruitment of TFIIH complex to lesion sites. 1 Publication | 1 | |
Mutagenesisi | 799 | F → A: Reduces DNA repair activity; abolishes single-stranded DNA binding; reduces binding to homoduplex DNA; greatly reduces localization at DNA damaged foci; decreases recruitment of TFIIH complex to lesion sites. 1 Publication | 1 | |
Mutagenesisi | 848 | W → A: Reduces NER activity and abolishes interaction with CETN2; when associated with A-851 and A-855. 1 Publication | 1 | |
Mutagenesisi | 851 | L → A: Reduces NER activity and abolishes interaction with CETN2; when associated with A-848 and A-855. 1 Publication | 1 | |
Mutagenesisi | 855 | L → A: Reduces NER activity and abolishes interaction with CETN2; when associated with A-848 and A-851. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Xeroderma pigmentosumOrganism-specific databases
DisGeNETi | 7508 |
GeneReviewsi | XPC |
MalaCardsi | XPC |
MIMi | 278720, phenotype |
OpenTargetsi | ENSG00000154767 |
Orphaneti | 910, Xeroderma pigmentosum |
PharmGKBi | PA37413 |
Miscellaneous databases
Pharosi | Q01831, Tbio |
Genetic variation databases
BioMutai | XPC |
DMDMi | 296453081 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000218293 | 2 – 940 | DNA repair protein complementing XP-C cellsAdd BLAST | 939 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 41 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 81 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 89 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 94 | PhosphoserineCombined sources | 1 | |
Modified residuei | 129 | PhosphoserineCombined sources | 1 | |
Modified residuei | 140 | PhosphoserineCombined sources | 1 | |
Cross-linki | 161 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 169 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 397 | PhosphoserineCombined sources | 1 | |
Modified residuei | 398 | PhosphoserineCombined sources | 1 | |
Modified residuei | 399 | PhosphoserineCombined sources | 1 | |
Modified residuei | 453 | PhosphoserineCombined sources | 1 | |
Modified residuei | 460 | PhosphoserineCombined sources | 1 | |
Modified residuei | 876 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 883 | PhosphoserineCombined sources | 1 | |
Modified residuei | 884 | PhosphoserineCombined sources | 1 | |
Modified residuei | 891 | PhosphoserineCombined sources | 1 | |
Modified residuei | 903 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q01831 |
jPOSTi | Q01831 |
MassIVEi | Q01831 |
MaxQBi | Q01831 |
PaxDbi | Q01831 |
PeptideAtlasi | Q01831 |
PRIDEi | Q01831 |
ProteomicsDBi | 19176 20470 58003 [Q01831-1] |
PTM databases
iPTMneti | Q01831 |
PhosphoSitePlusi | Q01831 |
SwissPalmi | Q01831 |
Expressioni
Gene expression databases
Bgeei | ENSG00000154767, Expressed in sural nerve and 240 other tissues |
ExpressionAtlasi | Q01831, baseline and differential |
Genevisiblei | Q01831, HS |
Organism-specific databases
HPAi | ENSG00000154767, Low tissue specificity |
Interactioni
Subunit structurei
Component of the XPC complex composed of XPC, RAD23B and CETN2 (PubMed:11279143, PubMed:12509233, PubMed:15964821, PubMed:17897675, PubMed:16627479, PubMed:16533048).
Interacts with RAD23A; the interaction is suggesting the existence of a functional equivalent variant XPC complex (PubMed:9372924).
Interacts with TDG; the interaction is demonstrated using the XPC:RAD23B dimer (PubMed:12505994, PubMed:20798892).
Interacts with SMUG1; the interaction is demonstrated using the XPC:RAD23B dimer (PubMed:20798892).
Interacts with DDB2 (PubMed:15882621).
Interacts with CCNH, GTF2H1 and ERCC3 (PubMed:10734143, PubMed:12509233).
Interacts with E2F1 and KAT2A; leading to KAT2A recruitment to promoters and subsequent acetylation of histones (PubMed:29973595, PubMed:31527837).
13 PublicationsBinary interactionsi
Q01831
Isoform 1 [Q01831-1]
With | #Exp. | IntAct |
---|---|---|
DDB2 [Q92466] | 4 | EBI-15950383,EBI-1176171 |
GTF2H1 [P32780] | 3 | EBI-15950383,EBI-715539 |
Protein-protein interaction databases
BioGRIDi | 113345, 135 interactors |
DIPi | DIP-31225N |
IntActi | Q01831, 67 interactors |
MINTi | Q01831 |
STRINGi | 9606.ENSP00000285021 |
Miscellaneous databases
RNActi | Q01831, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q01831 |
SMRi | Q01831 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q01831 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 78 | DisorderedSequence analysisAdd BLAST | 78 | |
Regioni | 111 – 136 | DisorderedSequence analysisAdd BLAST | 26 | |
Regioni | 327 – 519 | DisorderedSequence analysisAdd BLAST | 193 | |
Regioni | 496 – 734 | Interaction with RAD23BAdd BLAST | 239 | |
Regioni | 607 – 766 | Minimal sensor domain involved in damage recognitionAdd BLAST | 160 | |
Regioni | 607 – 741 | DNA-binding; preference for heteroduplex DNAAdd BLAST | 135 | |
Regioni | 767 – 831 | DNA-binding; preference for single stranded DNA; required for formation of stable nucleoprotein complexAdd BLAST | 65 | |
Regioni | 816 – 940 | Interaction with ERCC2 and GTF2H11 PublicationAdd BLAST | 125 | |
Regioni | 847 – 866 | Interaction with CETN2Add BLAST | 20 | |
Regioni | 866 – 940 | DisorderedSequence analysisAdd BLAST | 75 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 390 – 395 | Nuclear localization signalSequence analysis | 6 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1 – 46 | Basic and acidic residuesSequence analysisAdd BLAST | 46 | |
Compositional biasi | 121 – 136 | Acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 342 – 359 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 393 – 438 | Basic and acidic residuesSequence analysisAdd BLAST | 46 | |
Compositional biasi | 496 – 510 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 905 – 919 | Basic and acidic residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2179, Eukaryota |
GeneTreei | ENSGT00390000005194 |
HOGENOMi | CLU_009925_1_1_1 |
InParanoidi | Q01831 |
OMAi | PLTCYKY |
PhylomeDBi | Q01831 |
TreeFami | TF101242 |
Family and domain databases
DisProti | DP01626 |
Gene3Di | 3.30.70.2460, 1 hit 3.90.260.10, 2 hits |
IDEALi | IID00164 |
InterProi | View protein in InterPro IPR018327, BHD_2 IPR004583, DNA_repair_Rad4 IPR018026, DNA_repair_Rad4_subgr IPR038765, Papain-like_cys_pep_sf IPR018325, Rad4/PNGase_transGLS-fold IPR018326, Rad4_beta-hairpin_dom1 IPR018328, Rad4_beta-hairpin_dom3 IPR042488, Rad4_BHD3_sf IPR036985, Transglutaminase-like_sf |
PANTHERi | PTHR12135, PTHR12135, 1 hit |
Pfami | View protein in Pfam PF10403, BHD_1, 1 hit PF10404, BHD_2, 1 hit PF10405, BHD_3, 1 hit PF03835, Rad4, 1 hit |
SMARTi | View protein in SMART SM01030, BHD_1, 1 hit SM01031, BHD_2, 1 hit SM01032, BHD_3, 1 hit |
SUPFAMi | SSF54001, SSF54001, 1 hit |
TIGRFAMsi | TIGR00605, rad4, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MARKRAAGGE PRGRELRSQK SKAKSKARRE EEEEDAFEDE KPPKKSLLSK
60 70 80 90 100
VSQGKRKRGC SHPGGSADGP AKKKVAKVTV KSENLKVIKD EALSDGDDLR
110 120 130 140 150
DFPSDLKKAH HLKRGATMNE DSNEEEEESE NDWEEVEELS EPVLGDVRES
160 170 180 190 200
TAFSRSLLPV KPVEIEIETP EQAKTRERSE KIKLEFETYL RRAMKRFNKG
210 220 230 240 250
VHEDTHKVHL LCLLANGFYR NNICSQPDLH AIGLSIIPAR FTRVLPRDVD
260 270 280 290 300
TYYLSNLVKW FIGTFTVNAE LSASEQDNLQ TTLERRFAIY SARDDEELVH
310 320 330 340 350
IFLLILRALQ LLTRLVLSLQ PIPLKSATAK GKKPSKERLT ADPGGSSETS
360 370 380 390 400
SQVLENHTKP KTSKGTKQEE TFAKGTCRPS AKGKRNKGGR KKRSKPSSSE
410 420 430 440 450
EDEGPGDKQE KATQRRPHGR ERRVASRVSY KEESGSDEAG SGSDFELSSG
460 470 480 490 500
EASDPSDEDS EPGPPKQRKA PAPQRTKAGS KSASRTHRGS HRKDPSLPAA
510 520 530 540 550
SSSSSSSKRG KKMCSDGEKA EKRSIAGIDQ WLEVFCEQEE KWVCVDCVHG
560 570 580 590 600
VVGQPLTCYK YATKPMTYVV GIDSDGWVRD VTQRYDPVWM TVTRKCRVDA
610 620 630 640 650
EWWAETLRPY QSPFMDREKK EDLEFQAKHM DQPLPTAIGL YKNHPLYALK
660 670 680 690 700
RHLLKYEAIY PETAAILGYC RGEAVYSRDC VHTLHSRDTW LKKARVVRLG
710 720 730 740 750
EVPYKMVKGF SNRARKARLA EPQLREENDL GLFGYWQTEE YQPPVAVDGK
760 770 780 790 800
VPRNEFGNVY LFLPSMMPIG CVQLNLPNLH RVARKLDIDC VQAITGFDFH
810 820 830 840 850
GGYSHPVTDG YIVCEEFKDV LLTAWENEQA VIERKEKEKK EKRALGNWKL
860 870 880 890 900
LAKGLLIRER LKRRYGPKSE AAAPHTDAGG GLSSDEEEGT SSQAEAARIL
910 920 930 940
AASWPQNRED EEKQKLKGGP KKTKREKKAA ASHLFPFEQL
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE7EUB5 | E7EUB5_HUMAN | DNA repair protein-complementing XP... | XPC | 168 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 135 | E → Q in BAG58555 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 489 | G → E in BAG58555 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018894 | 16 | L → V1 PublicationCorresponds to variant dbSNP:rs1870134EnsemblClinVar. | 1 | |
Natural variantiVAR_018895 | 48 | L → F1 PublicationCorresponds to variant dbSNP:rs2229089EnsemblClinVar. | 1 | |
Natural variantiVAR_018896 | 86 | K → R1 PublicationCorresponds to variant dbSNP:rs3731063Ensembl. | 1 | |
Natural variantiVAR_057475 | 287 | F → C. Corresponds to variant dbSNP:rs35629274EnsemblClinVar. | 1 | |
Natural variantiVAR_018897 | 314 | R → Q1 PublicationCorresponds to variant dbSNP:rs3731126Ensembl. | 1 | |
Natural variantiVAR_005846 | 334 | P → H in XP-C; severe; does not affect interaction with KAT2A and transcription coactivator activity in absence of DNA damage. 2 PublicationsCorresponds to variant dbSNP:rs74737358EnsemblClinVar. | 1 | |
Natural variantiVAR_018898 | 492 | R → H1 PublicationCorresponds to variant dbSNP:rs2227999EnsemblClinVar. | 1 | |
Natural variantiVAR_018899 | 499 | A → V3 PublicationsCorresponds to variant dbSNP:rs2228000EnsemblClinVar. | 1 | |
Natural variantiVAR_059963 | 511 | K → Q. Corresponds to variant dbSNP:rs6413541EnsemblClinVar. | 1 | |
Natural variantiVAR_018900 | 513 | M → I1 PublicationCorresponds to variant dbSNP:rs3731130EnsemblClinVar. | 1 | |
Natural variantiVAR_057476 | 514 | C → S. Corresponds to variant dbSNP:rs3731130EnsemblClinVar. | 1 | |
Natural variantiVAR_018901 | 632 | Q → E1 PublicationCorresponds to variant dbSNP:rs3731139Ensembl. | 1 | |
Natural variantiVAR_018902 | 671 | R → H1 PublicationCorresponds to variant dbSNP:rs3731140Ensembl. | 1 | |
Natural variantiVAR_018903 | 689 | T → M1 PublicationCorresponds to variant dbSNP:rs3731152EnsemblClinVar. | 1 | |
Natural variantiVAR_064039 | 690 | W → S in XP-C; diminishes repair activity and impairs DNA binding. 4 Publications | 1 | |
Natural variantiVAR_005847 | 697 | V → VV in XP-C; mild. 1 Publication | 1 | |
Natural variantiVAR_018904 | 928 | K → Q1 PublicationCorresponds to variant dbSNP:rs3731177EnsemblClinVar. | 1 | |
Natural variantiVAR_005848 | 939 | Q → K3 PublicationsCorresponds to variant dbSNP:rs2228001EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046344 | 136 – 172 | Missing in isoform 2. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_055890 | 138 – 140 | ELS → VKR in isoform 3. 1 Publication | 3 | |
Alternative sequenceiVSP_055891 | 141 – 940 | Missing in isoform 3. 1 PublicationAdd BLAST | 800 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D21089 mRNA Translation: BAA04651.1 AF261901 , AF261892, AF261893, AF261894, AF261895, AF261896, AF261897, AF261898, AF261899, AF261900 Genomic DNA Translation: AAF87574.1 KJ535085 mRNA Translation: AHW56724.1 AY131066 Genomic DNA Translation: AAM77801.1 AK295711 mRNA Translation: BAG58555.1 AC093495 Genomic DNA No translation available. FJ695191 Genomic DNA No translation available. FJ695192 Genomic DNA No translation available. BC016620 mRNA Translation: AAH16620.1 AK222844 mRNA Translation: BAD96564.1 X65024 mRNA Translation: CAA46158.1 |
CCDSi | CCDS46763.1 [Q01831-1] |
PIRi | S44345 |
RefSeqi | NP_004619.3, NM_004628.4 [Q01831-1] |
Genome annotation databases
Ensembli | ENST00000285021; ENSP00000285021; ENSG00000154767 ENST00000476581; ENSP00000424548; ENSG00000154767 [Q01831-3] |
GeneIDi | 7508 |
KEGGi | hsa:7508 |
MANE-Selecti | ENST00000285021.12; ENSP00000285021.8; NM_004628.5; NP_004619.3 |
UCSCi | uc062gzd.1, human [Q01831-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D21089 mRNA Translation: BAA04651.1 AF261901 , AF261892, AF261893, AF261894, AF261895, AF261896, AF261897, AF261898, AF261899, AF261900 Genomic DNA Translation: AAF87574.1 KJ535085 mRNA Translation: AHW56724.1 AY131066 Genomic DNA Translation: AAM77801.1 AK295711 mRNA Translation: BAG58555.1 AC093495 Genomic DNA No translation available. FJ695191 Genomic DNA No translation available. FJ695192 Genomic DNA No translation available. BC016620 mRNA Translation: AAH16620.1 AK222844 mRNA Translation: BAD96564.1 X65024 mRNA Translation: CAA46158.1 |
CCDSi | CCDS46763.1 [Q01831-1] |
PIRi | S44345 |
RefSeqi | NP_004619.3, NM_004628.4 [Q01831-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2A4J | NMR | - | B | 847-863 | [»] | |
2GGM | X-ray | 2.35 | C/D | 847-863 | [»] | |
2OBH | X-ray | 1.80 | C/D | 847-863 | [»] | |
2RVB | NMR | - | A | 109-156 | [»] | |
BMRBi | Q01831 | |||||
SMRi | Q01831 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113345, 135 interactors |
DIPi | DIP-31225N |
IntActi | Q01831, 67 interactors |
MINTi | Q01831 |
STRINGi | 9606.ENSP00000285021 |
PTM databases
iPTMneti | Q01831 |
PhosphoSitePlusi | Q01831 |
SwissPalmi | Q01831 |
Genetic variation databases
BioMutai | XPC |
DMDMi | 296453081 |
Proteomic databases
EPDi | Q01831 |
jPOSTi | Q01831 |
MassIVEi | Q01831 |
MaxQBi | Q01831 |
PaxDbi | Q01831 |
PeptideAtlasi | Q01831 |
PRIDEi | Q01831 |
ProteomicsDBi | 19176 20470 58003 [Q01831-1] |
Protocols and materials databases
Antibodypediai | 4092, 326 antibodies from 31 providers |
DNASUi | 7508 |
Genome annotation databases
Ensembli | ENST00000285021; ENSP00000285021; ENSG00000154767 ENST00000476581; ENSP00000424548; ENSG00000154767 [Q01831-3] |
GeneIDi | 7508 |
KEGGi | hsa:7508 |
MANE-Selecti | ENST00000285021.12; ENSP00000285021.8; NM_004628.5; NP_004619.3 |
UCSCi | uc062gzd.1, human [Q01831-1] |
Organism-specific databases
CTDi | 7508 |
DisGeNETi | 7508 |
GeneCardsi | XPC |
GeneReviewsi | XPC |
HGNCi | HGNC:12816, XPC |
HPAi | ENSG00000154767, Low tissue specificity |
MalaCardsi | XPC |
MIMi | 278720, phenotype 613208, gene |
neXtProti | NX_Q01831 |
OpenTargetsi | ENSG00000154767 |
Orphaneti | 910, Xeroderma pigmentosum |
PharmGKBi | PA37413 |
VEuPathDBi | HostDB:ENSG00000154767 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2179, Eukaryota |
GeneTreei | ENSGT00390000005194 |
HOGENOMi | CLU_009925_1_1_1 |
InParanoidi | Q01831 |
OMAi | PLTCYKY |
PhylomeDBi | Q01831 |
TreeFami | TF101242 |
Enzyme and pathway databases
PathwayCommonsi | Q01831 |
Reactomei | R-HSA-3108214, SUMOylation of DNA damage response and repair proteins R-HSA-5696394, DNA Damage Recognition in GG-NER R-HSA-5696395, Formation of Incision Complex in GG-NER |
SignaLinki | Q01831 |
SIGNORi | Q01831 |
Miscellaneous databases
BioGRID-ORCSi | 7508, 7 hits in 1049 CRISPR screens |
ChiTaRSi | XPC, human |
EvolutionaryTracei | Q01831 |
GeneWikii | XPC_(gene) |
GenomeRNAii | 7508 |
Pharosi | Q01831, Tbio |
PROi | PR:Q01831 |
RNActi | Q01831, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000154767, Expressed in sural nerve and 240 other tissues |
ExpressionAtlasi | Q01831, baseline and differential |
Genevisiblei | Q01831, HS |
Family and domain databases
DisProti | DP01626 |
Gene3Di | 3.30.70.2460, 1 hit 3.90.260.10, 2 hits |
IDEALi | IID00164 |
InterProi | View protein in InterPro IPR018327, BHD_2 IPR004583, DNA_repair_Rad4 IPR018026, DNA_repair_Rad4_subgr IPR038765, Papain-like_cys_pep_sf IPR018325, Rad4/PNGase_transGLS-fold IPR018326, Rad4_beta-hairpin_dom1 IPR018328, Rad4_beta-hairpin_dom3 IPR042488, Rad4_BHD3_sf IPR036985, Transglutaminase-like_sf |
PANTHERi | PTHR12135, PTHR12135, 1 hit |
Pfami | View protein in Pfam PF10403, BHD_1, 1 hit PF10404, BHD_2, 1 hit PF10405, BHD_3, 1 hit PF03835, Rad4, 1 hit |
SMARTi | View protein in SMART SM01030, BHD_1, 1 hit SM01031, BHD_2, 1 hit SM01032, BHD_3, 1 hit |
SUPFAMi | SSF54001, SSF54001, 1 hit |
TIGRFAMsi | TIGR00605, rad4, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | XPC_HUMAN | |
Accessioni | Q01831Primary (citable) accession number: Q01831 Secondary accession number(s): B4DIP3 Q96AX0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | May 18, 2010 | |
Last modified: | February 23, 2022 | |
This is version 211 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families