|
|
|
|
|
|
Description:
DNA-repair protein complementing XP-A cells (Xeroderma pigmentosumgroup A complementing protein).
Molecular weight: 31368
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-NOV-1991, integrated into UniProtKB/Swiss-Prot.
01-NOV-1991, sequence version 1.
07-MAR-2006, entry version 65.
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 XPA_HUMAN:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | D14533 | BAA03403.1 | - |
| EMBL | BT019518 | AAV38325.1 | - |
| EMBL | AF503166 | AAM18969.1 | - |
| EMBL | BC014965 | AAH14965.1 | - |
| EMBL | U16815 | AAB60404.1 | - |
| PIR | I38886 | I38886. | |
| PDB | 1D4U | NMR | A=98-208. |
| PDB | 1XPA | NMR | @=98-219. |
| IntAct | P23025 | -.1 | |
| Ensembl | ENSG00000136936 | Homo sapiens.1 | |
| H-InvDB | HIX0008216 | -.1 | |
| HGNC | HGNC:12814 | XPA.1 | |
| MIM | 278700 | gene+phenotype. | |
| Reactome | P23025 | -.1 | |
| GO | GO:0005634 | C:nucleus | TAS. |
| GO | GO:0003684 | F:damaged DNA binding | TAS. |
| GO | GO:0005515 | F:protein binding | IPI. |
| GO | GO:0006281 | P:DNA repair | TAS. |
| InterPro | IPR000465 | XPA. | |
| PANTHER | PTHR10142 | XPA.1 | 1. |
| Pfam | PF05181 | XPA_C | 1. |
| Pfam | PF01286 | XPA_N | 1. |
| TIGRFAMs | TIGR00598 | rad14 | 1. |
| PROSITE | PS00752 | XPA_1 | 1. |
| PROSITE | PS00753 | XPA_2 | 1. |
Keywords:
3D-structure; Disease mutation; DNA damage; DNA repair; DNA-binding; Metal-binding; Nuclear protein; Polymorphism; Xeroderma pigmentosum; Zinc; Zinc-finger.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE.
RX MEDLINE=91043046; PubMed=2234061; DOI=10.1038/348073a0;
RA Tanaka K., Miura N., Satokata I., Miyamoto I., Yoshida M.C., Satoh Y.,
RA Kondo S., Yasui A., Okayama H., Okada Y.;
RT "Analysis of a human DNA excision repair gene involved in group A
RT Xeroderma pigmentosum and containing a zinc-finger domain.";
RL Nature 348:73-76(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT GLU-78 DEL.
RA Rieder M.J., Braun A.C., Montoya M.A., Chung M.-W., Nguyen C.P.,
RA Nguyen D.A., Livingston R.J., 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 (APR-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=B-cell;
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 OF 1-57.
RX MEDLINE=94124028; PubMed=8294029; DOI=10.1016/0378-1119(93)90493-M;
RA Satokata I., Iwai K., Matsuda T., Okada Y., Tanaka K.;
RT "Genomic characterization of the human DNA excision repair-controlling
RT gene XPAC.";
RL Gene 136:345-348(1993).
RN [6]
RP CHARACTERIZATION.
RX MEDLINE=92011785; PubMed=1918083;
RA Miura N., Miyamoto I., Asahina H., Satokata I., Tanaka K., Okada Y.;
RT "Identification and characterization of xpac protein, the gene product
RT of the human XPAC (Xeroderma pigmentosum group A complementing)
RT gene.";
RL J. Biol. Chem. 266:19786-19789(1991).
RN [7]
RP MUTAGENESIS.
RX MEDLINE=92291100; PubMed=1601884;
RA Miyamoto I., Miura N., Niwa H., Miyazaki J., Tanaka K.;
RT "Mutational analysis of the structure and function of the Xeroderma
RT pigmentosum group A complementing protein. Identification of essential
RT domains for nuclear localization and DNA excision repair.";
RL J. Biol. Chem. 267:12182-12187(1992).
RN [8]
RP REVIEW ON VARIANTS XP-A.
RX MEDLINE=93278029; PubMed=8504220;
RA Tanaka K.;
RT "Molecular analysis of Xeroderma pigmentosum group A gene.";
RL Jpn. J. Hum. Genet. 38:1-14(1993).
RN [9]
RP REVIEW ON VARIANTS XP-A.
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 [10]
RP VARIANT XP-A PHE-108.
RX MEDLINE=92201821; PubMed=1339397;
RA Satokata I., Tanaka K., Okada Y.;
RT "Molecular basis of group A Xeroderma pigmentosum: a missense mutation
RT and two deletions located in a zinc finger consensus sequence of the
RT XPAC gene.";
RL Hum. Genet. 88:603-607(1992).
RN [11]
RP VARIANT XP-A ARG-244.
RX MEDLINE=92186916; PubMed=1372103; DOI=10.1016/0921-8777(92)90081-D;
RA Satokata I., Tanaka K., Yuba S., Okada Y.;
RT "Identification of splicing mutations of the last nucleotides of
RT exons, a nonsense mutation, and a missense mutation of the XPAC gene
RT as causes of group A Xeroderma pigmentosum.";
RL Mutat. Res. 273:203-212(1992).
RN [12]
RP VARIANT XP-A PHE-108.
RX MEDLINE=98334346; PubMed=9671271;
RX DOI=10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.3.CO;2-Y;
RA States J.C., McDuffie E.R., Myrand S.P., McDowell M., Cleaver J.E.;
RT "Distribution of mutations in the human Xeroderma pigmentosum group A
RT gene and their relationships to the functional regions of the DNA
RT damage recognition protein.";
RL Hum. Mutat. 12:103-113(1998).
Feature:
CHAIN 1 273 DNA-repair protein complementing XP-A
cells.
/FTId=PRO_0000208648.
ZN_FING 105 129
MOTIF 26 47 Nuclear localization signal (Potential).
COMPBIAS 78 84 Poly-Glu.
VARIANT 78 78 Missing.
/FTId=VAR_014203.
VARIANT 94 94 P -> L (in XP-A).
/FTId=VAR_007727.
VARIANT 108 108 C -> F (in XP-A; severe form).
/FTId=VAR_007728.
VARIANT 130 130 R -> K (in XP-A).
/FTId=VAR_007729.
VARIANT 185 185 Q -> H (in XP-A).
/FTId=VAR_007730.
VARIANT 228 228 R -> Q (in dbSNP:1805160).
/FTId=VAR_014799.
VARIANT 244 244 H -> R (in XP-A; mild form).
/FTId=VAR_007731.
VARIANT 252 252 L -> V (in dbSNP:3176750).
/FTId=VAR_020324.
STRAND 103 104
TURN 106 108
STRAND 111 113
STRAND 115 117
TURN 118 121
STRAND 122 122
TURN 127 129
STRAND 131 135
STRAND 139 140
HELIX 141 144
TURN 145 149
STRAND 152 154
TURN 155 157
STRAND 158 158
STRAND 161 161
STRAND 164 168
STRAND 170 172
STRAND 176 176
STRAND 179 181
HELIX 183 193
TURN 194 194
STRAND 195 196
HELIX 197 206
Comments:
-!- FUNCTION: Involved in DNA excision repair. Initiates repair by
binding to damaged sites with various affinities, depending on the
photoproduct and the transcriptional state of the region.
-!- SUBUNIT: Interacts with XAB1.
-!- INTERACTION:
Q9HCS7:XAB2; NbExp=1; IntAct=EBI-295222, EBI-295232;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- DISEASE: Defects in XPA are a cause of xeroderma pigmentosum
complementation group A (XP-A) [MIM:278700]; also known as
xeroderma pigmentosum I (XP1). XP-A 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. Group A patients
show the most severe skin symptoms and progressive neurological
disorders.
-!- SIMILARITY: Belongs to the XPA family.
-!- DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.;
WWW="http://www.infobiogen.fr/services/chromcancer/Genes/XPAID104.html".
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
Sequence length: 273
MAAADGALPE AAALEQPAEL PASVRASIER KRQRALMLRQ ARLAARPYSA TAAAATGGMA
NVKAAPKIID TGGGFILEEE EEEEQKIGKV VHQPGPVMEF DYVICEECGK EFMDSYLMNH
FDLPTCDNCR DADDKHKLIT KTEAKQEYLL KDCDLEKREP PLKFIVKKNP HHSQWGDMKL
YLKLQIVKRS LEVWGSQEAL EEAKEVRQEN REKMKQKKFD KKVKELRRAV RSSVWKRETI
VHQHEYGPEE NLEDDMYRKT CTMCGHELTY EKM