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Description:
DNA damage-binding protein 2 (Damage-specific DNA-binding protein 2)(DDB p48 subunit) (DDBb) (UV-damaged DNA-binding protein 2) (UV-DDB2).
Molecular weight: 47864
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:
11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
01-FEB-1997, sequence version 1.
07-FEB-2006, entry version 48.
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 DDB2_HUMAN:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | U18300 | AAB07897.1 | - |
| EMBL | AB107037 | BAD12557.1 | - |
| EMBL | AB107038 | BAD12558.1 | - |
| EMBL | AB107039 | BAD12559.1 | - |
| EMBL | AB107040 | BAD12560.1 | - |
| EMBL | BT007139 | AAP35803.1 | - |
| EMBL | AY220533 | AAO25655.1 | - |
| EMBL | BC000093 | AAH00093.1 | - |
| TRANSFAC | T03239 | -. | |
| Ensembl | ENSG00000134574 | Homo sapiens.1 | |
| H-InvDB | HIX0009611 | -.1 | |
| HGNC | HGNC:2718 | DDB2.1 | |
| MIM | 278740 | phenotype. | |
| MIM | 600811 | gene. | |
| Reactome | Q92466 | -.1 | |
| LinkHub | Q92466 | -.1 | |
| GO | GO:0003684 | F:damaged DNA binding | TAS. |
| GO | GO:0006289 | P:nucleotide-excision repair | TAS. |
| InterPro | IPR001680 | WD40. | |
| Pfam | PF00400 | WD40 | 5. |
| PRINTS | PR00320 | GPROTEINBRPT. | |
| SMART | SM00320 | WD40 | 3. |
| PROSITE | PS00678 | WD_REPEATS_1 | 1. |
| PROSITE | PS50082 | WD_REPEATS_2 | 1. |
| PROSITE | PS50294 | WD_REPEATS_REGION | 1. |
Keywords:
Alternative splicing; Disease mutation; DNA damage; DNA repair; DNA-binding; Nuclear protein; Polymorphism; Repeat; WD repeat; Xeroderma pigmentosum.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Epidermis;
RX MEDLINE=96079092; PubMed=8530102;
RA Dualan R., Brody T., Keeney S., Nichols A.F., Admon A., Linn S.;
RT "Chromosomal localization and cDNA cloning of the genes (DDB1 and
RT DDB2) for the p127 and p48 subunits of a human damage-specific DNA
RT binding protein.";
RL Genomics 29:62-69(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS D1; D2; D3 AND D4), FUNCTION,
RP SUBUNIT, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RC TISSUE=Epithelium;
RX PubMed=14751237; DOI=10.1016/j.bbrc.2004.01.003;
RA Inoki T., Yamagami S., Inoki Y., Tsuru T., Hamamoto T., Kagawa Y.,
RA Mori T., Endo H.;
RT "Human DDB2 splicing variants are dominant negative inhibitors of UV-
RT damaged DNA repair.";
RL Biochem. Biophys. Res. Commun. 314:1036-1043(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS THR-215 AND THR-293.
RA Rieder M.J., Livingston R.J., Daniels M.R., 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 (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [6]
RP VARIANTS XPE GLU-244 AND HIS-273.
RX MEDLINE=96394574; PubMed=8798680; DOI=10.1074/jbc.271.40.24317;
RA Nichols A.F., Ong P., Linn S.;
RT "Mutations specific to the xeroderma pigmentosum group E Ddb-
RT phenotype.";
RL J. Biol. Chem. 271:24317-24320(1996).
Feature:
CHAIN 1 427 DNA damage-binding protein 2.
/FTId=PRO_0000050953.
REPEAT 109 149 WD 1.
REPEAT 154 195 WD 2.
REPEAT 240 280 WD 3.
REPEAT 286 325 WD 4.
REPEAT 389 426 WD 5.
VARSPLIC 89 152 Missing (in isoform D3).
/FTId=VSP_014674.
VARSPLIC 153 341 Missing (in isoform D1).
/FTId=VSP_014675.
VARSPLIC 153 156 IGAG -> HLVL (in isoform D2).
/FTId=VSP_014676.
VARSPLIC 157 427 Missing (in isoform D2).
/FTId=VSP_014677.
VARSPLIC 236 244 WNLRMHKKK -> VSVPMEPGS (in isoform D4).
/FTId=VSP_014678.
VARSPLIC 245 427 Missing (in isoform D4).
/FTId=VSP_014679.
VARIANT 215 215 M -> T (in dbSNP:4647750).
/FTId=VAR_016337.
VARIANT 244 244 K -> E (in XPE).
/FTId=VAR_010141.
VARIANT 273 273 R -> H (in XPE).
/FTId=VAR_010142.
VARIANT 293 293 A -> T (in dbSNP:4647751).
/FTId=VAR_016338.
Comments:
-!- FUNCTION: Involved in the repair of UV-damaged DNA. Binds to
pyrimidine dimers.
-!- SUBUNIT: Heterodimer of DDB1 and DDB2.
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=5;
Name=1;
IsoId=Q92466-1; Sequence=Displayed;
Name=D1;
IsoId=Q92466-2; Sequence=VSP_014675;
Note=Highly expressed in brain and heart. Does not interact with
DDB1 and inhibits UV-damaged DNA repair;
Name=D2;
IsoId=Q92466-3; Sequence=VSP_014676, VSP_014677;
Note=Weakly expressed. Does not interact with DDB1 and inhibits
UV-damaged DNA repair;
Name=D3;
IsoId=Q92466-4; Sequence=VSP_014674;
Note=Weakly expressed;
Name=D4;
IsoId=Q92466-5; Sequence=VSP_014678, VSP_014679;
Note=Weakly expressed;
-!- TISSUE SPECIFICITY: Ubiquitously expressed; with highest levels in
corneal endothelium and lowest levels in brain.
-!- DISEASE: Defects in DDB2 are a cause of xeroderma pigmentosum
complementation group A (XP-E) [MIM:278740]; also known as
xeroderma pigmentosum V (XP5). XP-E 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: Contains 5 WD repeats.
-!- DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.;
WWW="http://www.infobiogen.fr/services/chromcancer/Genes/XPEID298.html".
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Sequence length: 427
MAPKKRPETQ KTSEIVLRPR NKRSRSPLEL EPEAKKLCAK GSGPSRRCDS DCLWVGLAGP
QILPPCRSIV RTLHQHKLGR ASWPSVQQGL QQSFLHTLDS YRILQKAAPF DRRATSLAWH
PTHPSTVAVG SKGGDIMLWN FGIKDKPTFI KGIGAGGSIT GLKFNPLNTN QFYASSMEGT
TRLQDFKGNI LRVFASSDTI NIWFCSLDVS ASSRMVVTGD NVGNVILLNM DGKELWNLRM
HKKKVTHVAL NPCCDWFLAT ASVDQTVKIW DLRQVRGKAS FLYSLPHRHP VNAACFSPDG
ARLLTTDQKS EIRVYSASQW DCPLGLIPHP HRHFQHLTPI KAAWHPRYNL IVVGRYPDPN
FKSCTPYELR TIDVFDGNSG KMMCQLYDPE SSGISSLNEF NPMGDTLASA MGYHILIWSQ
EEARTRK