XPC
MCID: XRD019
MIFTS: 56

Xeroderma Pigmentosum, Group C (XPC) malady

Genetic diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases, Neuronal diseases, Eye diseases, Ear diseases categories
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Summaries for Xeroderma Pigmentosum, Group C

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MalaCards based summary: Xeroderma Pigmentosum, Group C, also known as XPC, is related to xeroderma pigmentosum and cockayne syndrome, and has symptoms including An important gene associated with Xeroderma Pigmentosum, Group C is XPC (xeroderma pigmentosum, complementation group C), and among its related pathways are Oncogene Induced Senescence and Inhibition of Ribosome Biogenesis by p14(ARF). The compounds cpds and phosphodiester have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and liver, and related mouse phenotypes are vision/eye and digestive/alimentary.

Description from OMIM:46 278720

Aliases & Classifications for Xeroderma Pigmentosum, Group C

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Xeroderma Pigmentosum, Group C, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Group C 46
Xpc 48 62
 
Xeroderma Pigmentosum Complementation Group C 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
xpc:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable


External Ids:

OMIM46 278720
ICD10 via Orphanet26 Q82.1
UMLS via Orphanet63 C2752147

Related Diseases for Xeroderma Pigmentosum, Group C

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Diseases in the Xeroderma Pigmentosum, Group a family:

Xeroderma Pigmentosum, Group B xeroderma pigmentosum, group c
Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum, Group F
Xeroderma Pigmentosum, Group D

Diseases related to Xeroderma Pigmentosum, Group C via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum30.9RAD23B, ERCC5, RAD23A, DDB2, TP53, RECQL
2cockayne syndrome30.6ERCC5, RAD23B, XPC, DDB2, ERCC3, ERCC8
3photosensitive trichothiodystrophy30.6ERCC3, ERCC5
4li-fraumeni syndrome30.2TP53, CDKN2A
5lung adenocarcinoma30.1TP73, TP53, CDKN2A
6lung cancer29.6ERCC3, DDB2, ERCC5, XPC, TP73, TP53
7colorectal cancer29.6TP73, MMP1, TP53, CDKN2A, XPC
8bladder carcinoma29.5CDKN2A, XPC, TP53, TP73
9melanoma29.5CDKN2A, ERCC5, XPC, MMP1, DDB2, MC1R
10laryngeal squamous cell carcinoma29.3TP73, TP53, CDKN2A, MMP1
11squamous cell carcinoma of the head and neck29.3TP53, MMP1, CDKN2A, TP73
12malignant glioma29.2ERCC3, TP73, CDKN2A, TP53
13prostate cancer29.2TP53, TP73, MC1R, ABCA1, XPC, ERCC5
14breast cancer29.2TP73, MC1R, MMP1, XPC, CDKN2A, ABCA1
15hepatocellular carcinoma10.5
16ovarian cancer10.5
17xpc-related xeroderma pigmentosum10.5
18xeroderma pigmentosum, group e, ddb-negative subtype10.4XPC, DDB2
19nasopharyngitis10.4
20adenocarcinoma10.4
21testicular cancer10.4
22xeroderma pigmentosum, group d10.4
23actinic keratosis10.4TP53
24xeroderma pigmentosum, group a10.2
25leukemia10.2
26gallbladder adenocarcinoma10.2
27bladder cancer susceptibility10.2
28lung cancer susceptibility10.2
29esophagitis10.1
30myeloid leukemia10.1
31mutagen sensitivity10.1
32breast cancer susceptibility10.1
33esophageal squamous cell carcinoma10.1
34oropharyngeal cancer, adult10.0CDKN2A, TP53
35oligodendroglioma10.0CDKN2A, TP73
36nasopharynx carcinoma10.0TP53, CDKN2A
37bladder carcinoma in situ10.0XPC, CDKN2A, TP53
38acute lymphoblastic leukemia9.9
39acute myeloid leukemia9.9
40cervical cancer9.9
41chronic myeloid leukemia9.9
42colorectal adenoma9.9
43male infertility9.9
44pancreatic cancer9.9
45azoospermia9.9
46barrett's esophagus9.9
47infertility9.9
48sporadic breast cancer9.9
49adenoma9.9
50cervicitis9.9

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Group C:



Diseases related to xeroderma pigmentosum, group c

Symptoms for Xeroderma Pigmentosum, Group C

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Symptoms by clinical synopsis from OMIM:

278720

Clinical features from OMIM:

278720

HPO human phenotypes related to Xeroderma Pigmentosum, Group C:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 keratitis HP:0000491
3 conjunctivitis HP:0000509
4 photophobia HP:0000613
5 entropion HP:0000621
6 ectropion HP:0000656
7 cutaneous photosensitivity HP:0000992
8 telangiectasia HP:0001009
9 hypopigmentation of the skin HP:0001010
10 poikiloderma HP:0001029
11 basal cell carcinoma HP:0002671
12 defective dna repair after ultraviolet radiation damage HP:0003079
13 dermal atrophy HP:0004334
14 squamous cell carcinoma of the skin HP:0006739
15 childhood onset HP:0011463
16 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Xeroderma Pigmentosum, Group C

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Drug clinical trials:

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Search NIH Clinical Center for Xeroderma Pigmentosum, Group C

Genetic Tests for Xeroderma Pigmentosum, Group C

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Anatomical Context for Xeroderma Pigmentosum, Group C

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group C:

32
Skin, Lung, Liver

Animal Models for Xeroderma Pigmentosum, Group C or affiliated genes

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Publications for Xeroderma Pigmentosum, Group C

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Articles related to Xeroderma Pigmentosum, Group C:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. (24218596)
2013
2
Hydrogen/Deuterium Exchange Reflects Binding of Human Centrin 2 to Ca(2+) and Xeroderma Pigmentosum Group C Peptide: An Example of EX1 Kinetics. (23439742)
2012
3
Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene. (23050045)
2012
4
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. (20649465)
2011
5
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. (20054342)
2010
6
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. (19686765)
2010
7
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. (19915453)
2010
8
p53 dysfunction by xeroderma pigmentosum group C defects enhance lung adenocarcinoma metastasis via increased MMP1 expression. (21056989)
2010
9
Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. (18785488)
2008
10
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. (18717677)
2008
11
Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. (18469853)
2008
12
The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. (17882560)
2008
13
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. (18987743)
2008
14
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. (17510383)
2007
15
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. (17693435)
2007
16
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. (17325666)
2007
17
Xeroderma pigmentosum group C in an isolated region of Guatemala. (16990803)
2007
18
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. (17573042)
2007
19
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. (17897675)
2007
20
The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. (16793369)
2006
21
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (16533048)
2006
22
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. (15731165)
2005
23
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
24
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. (15494739)
2005
25
DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. (15654957)
2005
26
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (15964821)
2005
27
Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. (15336624)
2004
28
A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein. (12815074)
2003
29
Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. (12505994)
2003
30
Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. (12948486)
2003
31
Genetic correction of DNA repair-deficient/cancer-prone xeroderma pigmentosum group C keratinocytes. (12869216)
2003
32
Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. (12485438)
2002
33
p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. (12242345)
2002
34
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. (11511294)
2001
35
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. (11279143)
2001
36
The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA. (10734143)
2000
37
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. (11023539)
2000
38
Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53-/- mice. (10029060)
1999
39
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. (9734359)
1998
40
Characterization of the properties of a human homologue of Escherichia coli RecQ from xeroderma pigmentosum group C and from HeLa cells. (8790942)
1996
41
Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. (8168482)
1994
42
Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25. (8088800)
1994
43
Repair in ribosomal RNA genes is deficient in xeroderma pigmentosum group C and in Cockayne's syndrome cells. (7512688)
1994
44
Characterization of molecular defects in Xeroderma pigmentosum group C. (8298653)
1993
45
DNA strand bias in the repair of the p53 gene in normal human and xeroderma pigmentosum group C fibroblasts. (8221675)
1993
46
Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (1522891)
1992
47
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. (1461286)
1992
48
Radiation-induced chromatid aberrations in Cockayne syndrome and xeroderma pigmentosum group C fibroblasts in relation to cancer predisposition. (1756475)
1991
49
Isolation by polymerase chain reaction of a cDNA whose product partially complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells. (2332174)
1990
50
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. (3029584)
1987

Variations for Xeroderma Pigmentosum, Group C

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Group C:

64
id Symbol AA change Variation ID SNP ID
1XPCp.Pro334HisVAR_005846rs74737358
2XPCp.Trp690SerVAR_064039

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group C:

6
id Gene Name Type Significance SNP ID Assembly Location
1XPCNM_004628.4(XPC): c.1001C> A (p.Pro334His)single nucleotide variantPathogenicrs74737358GRCh37Chr 3, 14200382: 14200382
2XPCXPC, 83-BP INS, NT462insertionPathogenic
3XPCXPC, 3-BP INS, GGT, CODON 580 AND LYS822GLNinsertionPathogenic
4XPCXPC, 2-BP DEL, 1132AAdeletionPathogenic
5XPCXPC, IVS9DS, T-G, +2single nucleotide variantPathogenic
6XPCXPC, 2-BP DEL, 669ATdeletionPathogenic
7XPCNM_004628.4(XPC): c.1735C> T (p.Arg579Ter)single nucleotide variantPathogenicrs121965088GRCh37Chr 3, 14199648: 14199648
8XPCXPC, IVS3AS, T-A, -9single nucleotide variantPathogenic
9XPCXPC, IVS3AS, A-G, -24single nucleotide variantPathogenic
10XPCXPC, 2-BP DEL, 1744TGdeletionPathogenic

Expression for genes affiliated with Xeroderma Pigmentosum, Group C

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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group C

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Pathways for genes affiliated with Xeroderma Pigmentosum, Group C

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Pathways related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7TP53, CDKN2A
29.7CDKN2A, TP53
39.6DDB2, TP53, XPC
49.5TP73, DDB2, TP53
59.5TP53, GTF2H1, CDKN2A
6
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.4TP53, CDKN2A, TP73
7
Show member pathways
Apoptosis Modulation and Signaling37
Apoptosis37
9.4CDKN2A, TP53, TP73
8
Show member pathways
9.4CDKN2A, TP53, TP73
9
Show member pathways
Signaling Pathways in Glioblastoma37
9.3CDKN2A, TP53, MMP1
109.2TP53, UVRAG, CDKN2A
11
Show member pathways
DNA damage response37
9.2TP53, CDKN2A, TP73, DDB2
12
Show member pathways
8.9ERCC3, GTF2H1, TP53, RAD23B, ERCC5, XPC
138.5TP53, XPC, ERCC3, GTF2H1, TDG, CDKN2A
14
Show member pathways
8.3DDB2, ERCC8, TDG, GTF2H1, ERCC3, ERCC5
15
Show member pathways
7.7DDB2, XPC, RAD23B, ERCC5, ERCC8, GTF2H1
16
Show member pathways
7.4XPC, UVRAG, RECQL, TP73, TP53, DDB2

Compounds for genes affiliated with Xeroderma Pigmentosum, Group C

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Compounds related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1cpds4410.4DDB2, ERCC3
2phosphodiester4410.2ERCC3, ERCC5
3acnu4410.1CDKN2A, TP53
4hpvs4410.0TP53, CDKN2A
5geranylgeranyl pyrophosphate4410.0MMP1, ABCA1
6olomoucine44 1110.9TP53, CDKN2A
7temozolomide44 1110.9CDKN2A, TP53
8tetracycline44 1110.8CDKN2A, TP73, MMP1
9aflatoxin b144 2410.8TP53, CDKN2A
10o6-methylguanine449.8TP73, TP53, CDKN2A
11hmba449.8TP53, CDKN2A
12vincristine44 50 1111.7TP53, TP73, CDKN2A
13adriamycin449.7TP53, CDKN2A, TP73
14camptothecin44 61 1111.7CDKN2A, TP53, TP73
15bcnu449.7TP53, CDKN2A
16egcg449.7TP53, CDKN2A, MMP1
175-aza-2deoxycytidine449.6TP53, TP73, CDKN2A
18arsenite44 2410.6CDKN2A, TP53, MMP1
195-methylcytosine44 2410.6CDKN2A, TDG, TP53
20noxa449.5TP53, TP73
21doxorubicin44 50 1111.4CDKN2A, MMP1, TP53, TP73
22paraffin449.4TP53, CDKN2A, MMP1, TP73
235fluorouracil449.2TP53, TP73, CDKN2A, TDG
24cycloheximide449.2TP53, MMP1, CDKN2A, ABCA1
25guanine44 24 1111.1TDG, TP53, MMP1
26progesterone44 28 61 24 1113.1TP53, CDKN2A, TP73, MMP1, ABCA1
27h2o2449.1CDKN2A, MC1R, TP53, MMP1
28retinoic acid44 2410.0TP73, MMP1, CDKN2A, ABCA1, TP53
29proline449.0RAD23B, RAD23A, TP73, TP53, ABCA1
30cisplatin44 50 61 1111.9TP73, CDKN2A, ERCC3, ERCC5, XPC, TP53
31estrogen448.8CDKN2A, TP53, MMP1, TDG, TP73
32oligonucleotide448.7TP73, TP53, MMP1, XPC, ERCC5, CDKN2A
33atp44 289.1RECQL, XPC, ABCA1, ERCC5, ERCC3, TDG

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group C

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Cellular components related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1holo TFIIH complexGO:0056759.7ERCC3, ERCC5, GTF2H1
2nuclear bodyGO:0166049.7TP53, CDKN2A
3XPC complexGO:0719429.7XPC, RAD23B, CETN2
4protein complexGO:0432348.7UVRAG, ERCC8, TP53, DDB2, CDKN2A
5nucleoplasmGO:0056547.7DDB2, CDKN2A, TDG, GTF2H1, ERCC3, ERCC8
6nucleolusGO:0057306.6CDKN2A, RECQL, XPC, RAD23A, RAD23B, ERCC5
7nucleusGO:0056345.7ERCC5, TDG, CDKN2A, GTF2H1, TP53, TP73

Biological processes related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair, DNA damage recognitionGO:00071510.4RAD23B, XPC
2regulation of mitotic cell cycle phase transitionGO:190199010.4ERCC3, XPC
3transcription elongation from RNA polymerase I promoterGO:00636210.3ERCC3, GTF2H1
4termination of RNA polymerase I transcriptionGO:00636310.2GTF2H1, ERCC3
5transcription initiation from RNA polymerase I promoterGO:00636110.2ERCC3, GTF2H1
6mitotic G1 DNA damage checkpointGO:03157110.1TP73, TP53
7UV protectionGO:00965010.1ERCC3, ERCC5, MC1R
8DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.1TP73, TP53
9replicative senescenceGO:09039910.0CDKN2A, TP53
10transcription from RNA polymerase I promoterGO:00636010.0GTF2H1, ERCC3
11regulation of proteasomal ubiquitin-dependent protein catabolic processGO:03243410.0RAD23B, RAD23A
12positive regulation of cell cycle arrestGO:07115810.0TP53, CDKN2A
13release of cytochrome c from mitochondriaGO:0018369.9TP73, TP53
14protein polyubiquitinationGO:0002099.9DDB2, ERCC8, CDKN2A
15mismatch repairGO:0062989.9TP73, TDG
16response to X-rayGO:0101659.9TP53, ERCC8, TP73
17response to UVGO:0094119.9ERCC3, DDB2, ERCC8, ERCC5
18response to gamma radiationGO:0103329.9TP73, TP53
19transcription-coupled nucleotide-excision repairGO:0062839.9GTF2H1, ERCC5, ERCC8, ERCC3
20intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:0427719.8TP53, TP73
21protein tetramerizationGO:0512629.8TP73, TP53
22cellular response to DNA damage stimulusGO:0069749.7ERCC8, TP73, TP53
23proteasome-mediated ubiquitin-dependent protein catabolic processGO:0431619.7ERCC8, RAD23B, RAD23A
247-methylguanosine mRNA cappingGO:0063709.7GTF2H1, ERCC3
25cell cycle arrestGO:0070509.7CDKN2A, TP73, TP53
26cellular response to UVGO:0346449.7TP73, TP53
27DNA strand renaturationGO:0007339.6RECQL, TP53
28nucleotide-excision repair, DNA damage removalGO:0007189.5ERCC3, XPC, GTF2H1, ERCC5, RAD23B, DDB2
29positive regulation of transcription from RNA polymerase II promoterGO:0459449.0GTF2H1, TP53, ERCC3, TP73, CDKN2A, MC1R
30viral processGO:0160329.0TP53, GTF2H1, ERCC3, RAD23A, MMP1
31nucleotide-excision repairGO:0062897.7GTF2H1, ERCC3, DDB2, TP53, CETN2, XPC
32DNA repairGO:0062817.4DDB2, RECQL, UVRAG, XPC, TDG, GTF2H1

Molecular functions related to Xeroderma Pigmentosum, Group C according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:00040510.2XPC, ERCC5
2RNA polymerase II carboxy-terminal domain kinase activityGO:00835310.0GTF2H1, ERCC3
3DNA-dependent ATPase activityGO:00809410.0ERCC8, ERCC3, GTF2H1
4MDM2/MDM4 family protein bindingGO:0973719.9CDKN2A, TP53
5protein N-terminus bindingGO:0474859.7ERCC5, ERCC3, TP53
6p53 bindingGO:0020399.6TP73, CDKN2A, TP53
7double-stranded DNA bindingGO:0036909.5ERCC5, TDG, TP73
8single-stranded DNA bindingGO:0036979.4XPC, RAD23A, RAD23B, ERCC5
9ATP-dependent DNA helicase activityGO:0040039.4ERCC3, RECQL
10polyubiquitin bindingGO:0315939.3RAD23B, RAD23A
11DNA helicase activityGO:0036789.3ERCC8, RECQL
12transcription factor bindingGO:0081349.3TP53, TP73, ERCC3, CDKN2A
13damaged DNA bindingGO:0036848.0DDB2, TP53, TP73, XPC, RAD23A, RAD23B
14protein bindingGO:0055154.5CETN2, TDG, GTF2H1, ERCC3, ERCC8, ERCC5

Products for genes affiliated with Xeroderma Pigmentosum, Group C

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