Protein data for XPC_HUMAN:

Description:
DNA-repair protein complementing XP-C cells (Xeroderma pigmentosumgroup C complementing protein) (p125).

Molecular weight: 10585

View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
DNA repair( GO:0006281 ) nucleotide-excision repair (and GO:0045001, a synonym)( GO:0006289 )


Important dates:
01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
01-OCT-1996, sequence version 2.
07-FEB-2006, entry version 55.

Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Catarrhini Hominidae Homo.

To calculate the pI (Isoelectric point - the pH where a protein has a neutral charge),
go to this page and enter the protein ID (e.g 3MG_ECOLI): http://us.expasy.org/tools/pi_tool.html

Links to references in other databases for protein XPC_HUMAN:

DatabasePointerAdd. info#1Add. info#2
EMBLD21089BAA04651.1-
EMBLAF261901AAF87574.1-
EMBLAF261892AAF87574.1JOINED
EMBLAF261893AAF87574.1JOINED
EMBLAF261894AAF87574.1JOINED
EMBLAF261895AAF87574.1JOINED
EMBLAF261896AAF87574.1JOINED
EMBLAF261897AAF87574.1JOINED
EMBLAF261898AAF87574.1JOINED
EMBLAF261899AAF87574.1JOINED
EMBLAF261900AAF87574.1JOINED
EMBLAY131066AAM77801.1-
EMBLBC016620AAH16620.1-
EMBLX65024CAA46158.1-
PIRS44345S44345.
IntActQ01831-.1
EnsemblENSG00000154767Homo sapiens.1
H-InvDBHIX0003081-.1
HGNCHGNC:12816XPC.1
MIM278720gene+phenotype.
ReactomeQ01831-.1
LinkHubQ01831-.1
GOGO:0003684F:damaged DNA bindingTAS.
GOGO:0005515F:protein bindingIPI.
GOGO:0003697F:single-stranded DNA bindingTAS.
GOGO:0006289P:nucleotide-excision repairTAS.
InterProIPR004583Rad4.
PANTHERPTHR12135Rad4.11.
PfamPF03835Rad41.
TIGRFAMsTIGR00605rad41.

General information about the databases mentioned above

Keywords:
Direct protein sequencing; Disease mutation; DNA damage; DNA repair; DNA-binding; Nuclear protein; Phosphorylation; Xeroderma pigmentosum.

References:
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND PROTEIN SEQUENCE OF 1-54.
RX MEDLINE=94222030; PubMed=8168482;
RA Masutani C., Sugasawa K., Yanagisawa J., Sonoyama T., Ui M.,
RA Enomoto T., Takio K., Tanaka K., van der Spek P.J., Bootsma D.,
RA Hoeijmakers J.H.J., Hanaoka F.;
RT "Purification and cloning of a nucleotide excision repair complex
RT involving the Xeroderma pigmentosum group C protein and a human
RT homologue of yeast RAD23.";
RL EMBO J. 13:1831-1843(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Khan S.G., Schneider T.D., Kraemer K.H.;
RT "Splicing abnormalities in the xeroderma pigmentosum group C (XPC)
RT gene.";
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-15; PHE-47;
RP ARG-85; GLN-313; HIS-491; ALA-498; ILE-512; GLU-631; HIS-670; MET-688;
RP GLN-927 AND GLN-938.
RA Rieder M.J., Livingston R.J., Braun A.C., Montoya M.A., Chung M.-W.,
RA Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D.,
RA Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A.;
RT "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department
RT of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-498.
RC TISSUE=Testis;
RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899;
RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
RT "Generation and initial analysis of more than 15,000 full-length human
RT and mouse cDNA sequences.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 118-939, AND VARIANT ALA-498.
RX MEDLINE=92396218; PubMed=1522891; DOI=10.1038/359070a0;
RA Legerski R.J., Peterson C.A.;
RT "Expression cloning of a human DNA repair gene involved in Xeroderma
RT pigmentosum group C.";
RL Nature 359:70-73(1992).
RN [6]
RP ERRATUM.
RX PubMed=1461286; DOI=10.1038/360610b0;
RA Legerski R.J., Peterson C.A.;
RL Nature 360:610-610(1992).
RN [7]
RP REVIEW ON VARIANTS XP-C.
RX MEDLINE=99374920; PubMed=10447254;
RX DOI=10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.3.CO;2-Y;
RA Cleaver J.E., Thompson L.H., Richardson A.S., States J.C.;
RT "A summary of mutations in the UV-sensitive disorders: xeroderma
RT pigmentosum, Cockayne syndrome, and trichothiodystrophy.";
RL Hum. Mutat. 14:9-22(1999).
RN [8]
RP PHOSPHORYLATION SITES SER-882 AND SER-883.
RX PubMed=15302935; DOI=10.1073/pnas.0404720101;
RA Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J.,
RA Li J., Cohn M.A., Cantley L.C., Gygi S.P.;
RT "Large-scale characterization of HeLa cell nuclear phosphoproteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
RN [9]
RP VARIANTS XP-C HIS-333 AND VAL-696 INS, AND VARIANT GLN-938.
RX MEDLINE=94129623; PubMed=8298653;
RA Li L., Bales E.S., Peterson C.A., Legerski R.J.;
RT "Characterization of molecular defects in Xeroderma pigmentosum group
RT C.";
RL Nat. Genet. 5:413-417(1993).

Feature:
INIT_MET 0 0
CHAIN 1 939 DNA-repair protein complementing XP-C
cells.
/FTId=PRO_0000218293.
MOTIF 389 394 Nuclear localization signal (Potential).
COMPBIAS 29 176 Glu-rich (acidic).
COMPBIAS 29 33 Poly-Glu.
COMPBIAS 123 129 Poly-Glu.
COMPBIAS 358 394 Lys-rich (basic).
COMPBIAS 407 430 Arg/Lys-rich (basic).
COMPBIAS 431 460 Asp/Glu-rich (acidic).
COMPBIAS 465 492 Arg/Lys-rich (basic).
COMPBIAS 500 506 Poly-Ser.
MOD_RES 882 882 Phosphoserine.
MOD_RES 883 883 Phosphoserine.
VARIANT 15 15 L -> V.
/FTId=VAR_018894.
VARIANT 47 47 L -> F.
/FTId=VAR_018895.
VARIANT 85 85 K -> R.
/FTId=VAR_018896.
VARIANT 313 313 R -> Q.
/FTId=VAR_018897.
VARIANT 333 333 P -> H (in XP-C; severe).
/FTId=VAR_005846.
VARIANT 491 491 R -> H.
/FTId=VAR_018898.
VARIANT 498 498 V -> A.
/FTId=VAR_018899.
VARIANT 512 512 M -> I.
/FTId=VAR_018900.
VARIANT 631 631 Q -> E.
/FTId=VAR_018901.
VARIANT 670 670 R -> H.
/FTId=VAR_018902.
VARIANT 688 688 T -> M.
/FTId=VAR_018903.
VARIANT 696 696 V -> VV (in XP-C; mild).
/FTId=VAR_005847.
VARIANT 927 927 K -> Q.
/FTId=VAR_018904.
VARIANT 938 938 K -> Q.
/FTId=VAR_005848.

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: Heterodimer of a 125 kDa subunit (p125) and of a 58 kDa
subunit (p58).
-!- INTERACTION:
P62310:LSM3; NbExp=1; IntAct=EBI-372610, EBI-348239;
-!- SUBCELLULAR LOCATION: Nucleus (Probable).
-!- 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.
-!- SIMILARITY: Belongs to the XPC family.
-!- DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.;
WWW="http://www.infobiogen.fr/services/chromcancer/Genes/XPCID122.html".
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Sequence length: 939

     ARKRAAGGEP RGRELRSQKS KAKSKARREE EEEDAFEDEK PPKKSLLSKV SQGKRKRGCS
     HPGGSADGPA KKKVAKVTVK SENLKVIKDE ALSDGDDLRD FPSDLKKAHH LKRGATMNED
     SNEEEEESEN DWEEVEELSE PVLGDVREST AFSRSLLPVK PVEIEIETPE QAKTRERSEK
     IKLEFETYLR RAMKRFNKGV HEDTHKVHLL CLLANGFYRN NICSQPDLHA IGLSIIPARF
     TRVLPRDVDT YYLSNLVKWF IGTFTVNAEL SASEQDNLQT TLERRFAIYS ARDDEELVHI
     FLLILRALQL LTRLVLSLQP IPLKSATAKG KKPSKERLTA DPGGSSETSS QVLENHTKPK
     TSKGTKQEET FAKGTCRPSA KGKRNKGGRK KRSKPSSSEE DEGPGDKQEK ATQRRPHGRE
     RRVASRVSYK EESGSDEAGS GSDFELSSGE ASDPSDEDSE PGPPKQRKAP APQRTKAGSK
     SASRTHRGSH RKDPSLPVAS SSSSSSKRGK KMCSDGEKAE KRSIAGIDQW LEVFCEQEEK
     WVCVDCVHGV VGQPLTCYKY ATKPMTYVVG IDSDGWVRDV TQRYDPVWMT VTRKCRVDAE
     WWAETLRPYQ SPFMDREKKE DLEFQAKHMD QPLPTAIGLY KNHPLYALKR HLLKYEAIYP
     ETAAILGYCR GEAVYSRDCV HTLHSRDTWL KKARVVRLGE VPYKMVKGFS NRARKARLAE
     PQLREENDLG LFGYWQTEEY QPPVAVDGKV PRNEFGNVYL FLPSMMPIGC VQLNLPNLHR
     VARKLDIDCV QAITGFDFHG GYSHPVTDGY IVCEEFKDVL LTAWENEQAV IERKEKEKKE
     KRALGNWKLL AKGLLIRERL KRRYGPKSEA AAPHTDAGGG LSSDEEEGTS SQAEAARILA
     ASWPQNREDE EKQKLKGGPK KTKREKKAAA SHLFPFEKL