Welcome! Click here to login or here to register.
 |
|||||||||||||||||||
|
|||||||||||||||||||
 |
|||||||||||||||||||
XPA |
Protein FULL name:
DNA repair protein complementing XP-A cells, Xeroderma pigmentosum group A-complementing protein.,
XPA (Homo sapiens) is product of expression of XPA gene.
Human diseases related to this protein:
XPA is involved in:
NER in Homo sapiens
Keywords:
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. Required for UV-induced CHK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.
SUBUNIT: Interacts with XAB1 and RPA1. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2.
INTERACTION: Q9HCN4:GPN1; NbExp=2; IntAct=EBI-295222, EBI-745137; Q9HCS7:XAB2; NbExp=1; IntAct=EBI-295222, EBI-295232;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in various cell lines and in skin fibroblasts.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
PTM: Ubiquitinated by HERC2 leading to degradation by the proteasome.
DISEASE: Defects in XPA are a cause of xeroderma pigmentosum complementation group A (XP-A) [MIM:278700]; also known as xeroderma pigmentosum type 1 (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.
WEB RESOURCE: Name=Allelic variations of the XP genes; [LINK]
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
139816 4507937 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | P23025 |
P23025 |
| PFAM: | - |
P23025 (Link - using uniprot id) |
| InterPro: |
IPR009061 IPR000465 IPR022654 |
IPR009061 IPR000465 IPR022654 |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MAAADGALPEAAALEQPAELPASVRASIERKRQRALMLRQARLAARPYSA TAAAATGGMANVKAAPKIIDTGGGFILEEEEEEEQKIGKVVHQPGPVMEF DYVICEECGKEFMDSYLMNHFDLPTCDNCRDADDKHKLITKTEAKQEYLL KDCDLEKREPPLKFIVKKNPHHSQWGDMKLYLKLQIVKRSLEVWGSQEAL EEAKEVRQENREKMKQKKFDKKVKELRRAVRSSVWKRETIVHQHEYGPEE NLEDDMYRKTCTMCGHELTYEKM |
XPA (Homo sapiens) is able to recognize following damages:
XPA (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. | Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y | Nature Nov. 1, 1990 |
| Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene. | Miura N, Miyamoto I, Asahina H, Satokata I, Tanaka K, Okada Y | J Biol Chem Oct. 15, 1991 |
| Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. | Satokata I, Tanaka K, Okada Y | Hum Genet March 1, 1992 |
| Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. | Satokata I, Tanaka K, Yuba S, Okada Y | Mutat Res March 1, 1992 |
| Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair. | Miyamoto I, Miura N, Niwa H, Miyazaki J, Tanaka K | J Biol Chem June 15, 1992 |
| The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene. | Tanaka K | Jpn J Hum Genet March 1, 1993 |
| Genomic characterization of the human DNA excision repair-controlling gene XPAC. | Satokata I, Iwai K, Matsuda T, Okada Y, Tanaka K | Gene Dec. 22, 1993 |
| Characterization of the human XPA promoter. | Topping RS, Myrand SP, Williams BL, Albert JC, States JC | Gene Dec. 12, 1995 |
| Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. | States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE | Hum Mutat Jan. 1, 1998 |
| Solution structure of the DNA- and RPA-binding domain of the human repair factor XPA. | Ikegami T, Kuraoka I, Saijo M, Kodo N, Kyogoku Y, Morikawa K, Tanaka K, Shirakawa M | Nat Struct Biol Aug. 1, 1998 |
| A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. | Cleaver JE, Thompson LH, Richardson AS, States JC | Hum Mutat Jan. 1, 1999 |
| Interactions of human nucleotide excision repair protein XPA with DNA and RPA70 Delta C327: chemical shift mapping and 15N NMR relaxation studies. | Buchko GW, Daughdrill GW, de Lorimier R, Rao B K, Isern NG, Lingbeck JM, Taylor JS, Wold MS, Gochin M, Spicer LD, Lowry DF, Kennedy MA | Biochemistry Nov. 16, 1999 |
| DNA sequence and analysis of human chromosome 9. | Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I | Nature May 27, 2004 |
| The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J | Genome Res Oct. 1, 2004 |
| ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. | Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ | Science May 25, 2007 |
| UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity. | Pan YR, Lee EY | Cell Cycle Jan. 15, 2009 |
| Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. | Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S | Anal Chem June 1, 2009 |
| Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase. | Kang TH, Lindsey-Boltz LA, Reardon JT, Sancar A | Proc Natl Acad Sci U S A March 16, 2010 |
Last modification of this entry: Oct. 19, 2010.
Add your own comment!
There is no comment yet.
|
|
|
|