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Reviewed, UniProtKB/Swiss-Prot Q01831 (XPC_HUMAN)

Last modified November 25, 2008. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    DNA repair protein complementing XP-C cells
Alternative name(s):
    Xeroderma pigmentosum group C-complementing protein
    p125
Gene names
Name: XPC
Synonyms: XPCC
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length940 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Involved in DNA excision repair. May play a part in DNA damage recognition and/or in altering chromatin structure to allow access by damage-processing enzymes.

Subunit structure

Heterodimer of a 125 kDa subunit (p125) and of a 58 kDa subunit (p58). Interacts with CETN2.

Subcellular location

NucleusProbable.

Post-translational modification

Phosphorylated upon DNA damage, probably by ATM or ATR.

Involvement in disease

Defects in XPC are a cause of xeroderma pigmentosum complementation group C (XP-C) [MIM:278720]; also known as xeroderma pigmentosum III (XP3). XP-C is a rare human autosomal recessive disease characterized by solar sensitivity, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities.

Sequence similarities

Belongs to the XPC family.

Ontologies

Keywords

   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   DiseaseDisease mutation
Xeroderma pigmentosum
   LigandDNA-binding
   PTMPhosphoprotein
   Technical term3D-structure
Direct protein sequencing

Gene Ontology (GO)

   Biological processnucleotide-excision repair, DNA damage removal

Inferred from Experiment. Source: Reactome

   Cellular componentnucleoplasm

Inferred from Experiment. Source: Reactome

   Molecular functiondamaged DNA binding

Traceable author statement. Source: ProtInc

protein binding

Inferred from physical interaction. Source: IntAct

single-stranded DNA binding Ref.1

Traceable author statement. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

BGLF4Q777D17EBI-372610,EBI-1630636From a different organism.
LSM3P623101EBI-372610,EBI-348239

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed
Chain2 – 940939DNA repair protein complementing XP-C cells
PRO_0000218293

Regions

Motif390 – 3956Nuclear localization signal Potential
Compositional bias30 – 177148Glu-rich (acidic)
Compositional bias30 – 345Poly-Glu
Compositional bias124 – 1307Poly-Glu
Compositional bias359 – 39537Lys-rich (basic)
Compositional bias408 – 43124Arg/Lys-rich (basic)
Compositional bias432 – 46130Asp/Glu-rich (acidic)
Compositional bias466 – 49328Arg/Lys-rich (basic)
Compositional bias501 – 5077Poly-Ser

Amino acid modifications

Modified residue941Phosphoserine
Modified residue1691Phosphothreonine
Modified residue3471Phosphoserine
Modified residue3511Phosphoserine
Modified residue8831Phosphoserine
Modified residue8841Phosphoserine
Modified residue8911Phosphoserine
Modified residue8921Phosphoserine

Natural variations

Natural variant161L → V
VAR_018894
Natural variant481L → F
VAR_018895
Natural variant861K → R
VAR_018896
Natural variant3141R → Q
VAR_018897
Natural variant3341P → H in XP-C; severe.
VAR_005846
Natural variant4921R → H
VAR_018898
Natural variant4991V → A
VAR_018899
Natural variant5131M → I
VAR_018900
Natural variant6321Q → E
VAR_018901
Natural variant6711R → H
VAR_018902
Natural variant6891T → M
VAR_018903
Natural variant6971V → VV in XP-C; mild.
VAR_005847
Natural variant9281K → Q
VAR_018904
Natural variant9391K → Q
VAR_005848

Sequences

Sequence LengthMass (Da)Tools
Q01831-1 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: F557E3C619C1E898

FASTA940105,981
        10         20         30         40         50         60 
MARKRAAGGE PRGRELRSQK SKAKSKARRE EEEEDAFEDE KPPKKSLLSK VSQGKRKRGC 

        70         80         90        100        110        120 
SHPGGSADGP AKKKVAKVTV KSENLKVIKD EALSDGDDLR DFPSDLKKAH HLKRGATMNE 

       130        140        150        160        170        180 
DSNEEEEESE NDWEEVEELS EPVLGDVRES TAFSRSLLPV KPVEIEIETP EQAKTRERSE 

       190        200        210        220        230        240 
KIKLEFETYL RRAMKRFNKG VHEDTHKVHL LCLLANGFYR NNICSQPDLH AIGLSIIPAR 

       250        260        270        280        290        300 
FTRVLPRDVD TYYLSNLVKW FIGTFTVNAE LSASEQDNLQ TTLERRFAIY SARDDEELVH 

       310        320        330        340        350        360 
IFLLILRALQ LLTRLVLSLQ PIPLKSATAK GKKPSKERLT ADPGGSSETS SQVLENHTKP 

       370        380        390        400        410        420 
KTSKGTKQEE TFAKGTCRPS AKGKRNKGGR KKRSKPSSSE EDEGPGDKQE KATQRRPHGR 

       430        440        450        460        470        480 
ERRVASRVSY KEESGSDEAG SGSDFELSSG EASDPSDEDS EPGPPKQRKA PAPQRTKAGS 

       490        500        510        520        530        540 
KSASRTHRGS HRKDPSLPVA SSSSSSSKRG KKMCSDGEKA EKRSIAGIDQ WLEVFCEQEE 

       550        560        570        580        590        600 
KWVCVDCVHG VVGQPLTCYK YATKPMTYVV GIDSDGWVRD VTQRYDPVWM TVTRKCRVDA 

       610        620        630        640        650        660 
EWWAETLRPY QSPFMDREKK EDLEFQAKHM DQPLPTAIGL YKNHPLYALK RHLLKYEAIY 

       670        680        690        700        710        720 
PETAAILGYC RGEAVYSRDC VHTLHSRDTW LKKARVVRLG EVPYKMVKGF SNRARKARLA 

       730        740        750        760        770        780 
EPQLREENDL GLFGYWQTEE YQPPVAVDGK VPRNEFGNVY LFLPSMMPIG CVQLNLPNLH 

       790        800        810        820        830        840 
RVARKLDIDC VQAITGFDFH GGYSHPVTDG YIVCEEFKDV LLTAWENEQA VIERKEKEKK 

       850        860        870        880        890        900 
EKRALGNWKL LAKGLLIRER LKRRYGPKSE AAAPHTDAGG GLSSDEEEGT SSQAEAARIL 

       910        920        930        940 
AASWPQNRED EEKQKLKGGP KKTKREKKAA ASHLFPFEKL 

« Hide

References

« Hide 'large scale' references
[1]"Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23."
Masutani C., Sugasawa K., Yanagisawa J., Sonoyama T., Ui M., Enomoto T., Takio K., Tanaka K., van der Spek P.J., Bootsma D., Hoeijmakers J.H.J., Hanaoka F.
EMBO J. 13:1831-1843(1994) [PubMed: 8168482] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 2-55.
[2]"Splicing abnormalities in the xeroderma pigmentosum group C (XPC) gene."
Khan S.G., Schneider T.D., Kraemer K.H.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)."
Rieder M.J., Livingston R.J., Braun A.C., Montoya M.A., Chung M.-W., Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D., Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A.
Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-16; PHE-48; ARG-86; GLN-314; HIS-492; ALA-499; ILE-513; GLU-632; HIS-671; MET-689; GLN-928 AND GLN-939.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-499.
Tissue: Testis.
[5]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 69-940, VARIANTS ALA-499 AND GLN-939.
Tissue: Liver.
[6]"Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C."
Legerski R.J., Peterson C.A.
Nature 359:70-73(1992) [PubMed: 1522891] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 119-940, VARIANT ALA-499.
[7]Erratum
Legerski R.J., Peterson C.A.
Nature 360:610-610(1992) [PubMed: 1461286] [Abstract]
[8]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed: 17081983] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-94, MASS SPECTROMETRY.
Tissue: Epithelium.
[9]"Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line."
Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S.
Electrophoresis 28:2027-2034(2007) [PubMed: 17487921] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-883 AND SER-884, MASS SPECTROMETRY.
[10]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-347; SER-351; SER-883; SER-884 AND SER-892, MASS SPECTROMETRY.
[11]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-883 AND SER-884, MASS SPECTROMETRY.
[12]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-94; THR-169; SER-883; SER-884 AND SER-891, MASS SPECTROMETRY.
[13]"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-883 AND SER-884, MASS SPECTROMETRY.
Tissue: Liver.
[14]"Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair."
Yang A., Miron S., Mouawad L., Duchambon P., Blouquit Y., Craescu C.T.
Biochemistry 45:3653-3663(2006) [PubMed: 16533048] [Abstract]
Cited for: STRUCTURE BY NMR OF 847-863 IN COMPLEX WITH CETN2.
[15]"The structure of the human centrin 2-xeroderma pigmentosum group C protein complex."
Thompson J.R., Ryan Z.C., Salisbury J.L., Kumar R.
J. Biol. Chem. 281:18746-18752(2006) [PubMed: 16627479] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 847-863 IN COMPLEX WITH CETN2.
[16]"A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."
Cleaver J.E., Thompson L.H., Richardson A.S., States J.C.
Hum. Mutat. 14:9-22(1999) [PubMed: 10447254] [Abstract]
Cited for: REVIEW ON VARIANTS XP-C.
[17]"Large-scale characterization of HeLa cell nuclear phosphoproteins."
Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-883 AND SER-884, MASS SPECTROMETRY.
Tissue: Epithelium.
[18]"Characterization of molecular defects in Xeroderma pigmentosum group C."
Li L., Bales E.S., Peterson C.A., Legerski R.J.
Nat. Genet. 5:413-417(1993) [PubMed: 8298653] [Abstract]
Cited for: VARIANTS XP-C HIS-334 AND VAL-697 INS, VARIANT GLN-939.
+Additional computationally mapped references.

Cross-references

Sequence databases

D21089 mRNA. Translation: BAA04651.1.
AF261901 expand/collapse EMBL AC list , AF261892, AF261893, AF261894, AF261895, AF261896, AF261897, AF261898, AF261899, AF261900 Genomic DNA. Translation: AAF87574.1.
AY131066 Genomic DNA. Translation: AAM77801.1.
BC016620 mRNA. Translation: AAH16620.1.
AK222844 mRNA. Translation: BAD96564.1.
X65024 mRNA. Translation: CAA46158.1.
PIRS44345.
RefSeqNP_004619.2.
UniGeneHs.475538

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
2A4JNMR-B847-863[»]
2GGMX-ray2.35C/D847-863[»]
ModBaseSearch...

Protein-protein interaction databases

IntActQ01831.

PTM databases

PhosphoSiteQ01831.

Polymorphism databases

NIEHS-SNPsSearch...

Proteomic databases

PeptideAtlasQ01831.

Genome annotation databases

EnsemblENSG00000154767. Homo sapiens. [Contig view]
GeneID7508.
KEGGhsa:7508.

Organism-specific databases

H-InvDBHIX0003081.
HGNCHGNC:12816. XPC.
HPACAB009932.
MIM278720. gene+phenotype.
Orphanet910. Xeroderma pigmentosum.
PharmGKBPA37413.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ01831.
HOVERGENQ01831.

Enzyme and pathway databases

ReactomeREACT_216. DNA Repair.

Gene expression databases

CleanExHS_XPC.
GermOnlineENSG00000154767. Homo sapiens.

Family and domain databases

InterProIPR004583. Rad4.
[Graphical view]
PANTHERPTHR12135. Rad4. 1 hit.
PfamPF03835. Rad4. 1 hit.
[Graphical view]
TIGRFAMsTIGR00605. rad4. 1 hit.
ProtoNetSearch...

Other Resources

LinkHubQ01831.
NextBio29391.
SOURCESearch...

Entry information

Entry nameXPC_HUMAN
AccessionPrimary (citable) accession number: Q01831
Secondary accession number(s): Q53GT7, Q96AX0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: January 23, 2007
Last modified: November 25, 2008
This is version 90 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents