XPC - XPC complex subunit, DNA damage recognition and repair factor Gene

Also Known as XP3; RAD4; XPCC; p125

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7508

About XPC

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,145,147-14,178,601 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues and is associated with 86 phenotypes. Ubiquitous expression in ovary (RPKM 17.1), kidney (RPKM 15.8) and 25 other tissues.

Summary

The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some Other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

XPC Products (5)

mRNA Protein Name
NM_001354726.2 NP_001341655.1 DNA repair protein complementing XP-C cells isoform 3
NM_001354727.2 NP_001341656.1 DNA repair protein complementing XP-C cells isoform 4
NM_001354729.2 NP_001341658.1 DNA repair protein complementing XP-C cells isoform 5
NM_001354730.2 NP_001341659.1 DNA repair protein complementing XP-C cells isoform 6
NM_004628.5 NP_004619.3 DNA repair protein complementing XP-C cells isoform 1
Molecular Function GO Annotation Evidence References Source
enables DNA damage sensor activity IDA
IDA: Inferred from direct assay
10873465 GOA
enables damaged DNA binding IDA
IDA: Inferred from direct assay
12509299 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10488153 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
11259578 GOA
enables single-stranded DNA binding IDA
IDA: Inferred from direct assay
12509299 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
29973595 GOA
Biological Process GO Annotation Evidence References Source
involved in UV-damage excision repair IDA
IDA: Inferred from direct assay
8077226 GOA
involved in nucleotide-excision repair IDA
IDA: Inferred from direct assay
8168482 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
29973595 GOA
involved in regulation of mitotic cell cycle phase transition IMP
IMP: Inferred from mutant phenotype
17088560 GOA
Cellular Component GO Annotation Evidence References Source
part of XPC complex IDA
IDA: Inferred from direct assay
11279143 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
18682493 GOA
part of nucleotide-excision repair complex IDA
IDA: Inferred from direct assay
11259578 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18682493 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XPC Protein Structure

Rad4

Rad4: Rad4 transglutaminase-like domain (501 - 625)

BHD_1

BHD_1: Rad4 beta-hairpin domain 1 (631 - 682)

BHD_2

BHD_2: Rad4 beta-hairpin domain 2 (684 - 744)

BHD_3

BHD_3: Rad4 beta-hairpin domain 3 (751 - 825)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 940 a.a.
Protein Preferred Names Protein Names

DNA repair protein complementing XP-C cells

  • mutant xeroderma pigmentosum group C

XPC Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
XPC Q01831 ERCC3 Homo sapiens P19447 34591642
Intra
XPC Q01831 ERCC3 Homo sapiens P19447 10734143
Intra
XPC Q01831 CETN2 Homo sapiens P41208 34591612
Intra
XPC Q01831 CETN2 Homo sapiens P41208 34591642
Intra
XPC Q01831 CETN2 Homo sapiens P41208 21962512
Intra
XPC Q01831 CETN2 Homo sapiens P41208 33961781
Intra
XPC Q01831 CETN2 Homo sapiens P41208 28514442
Intra
XPC Q01831 PSMC5 Homo sapiens P62195 17693435
Intra
XPC Q01831 GTF2H1 Homo sapiens P32780 34591642
Intra
XPC Q01831 GTF2H1 Homo sapiens P32780 10734143
Intra
XPC Q01831 RAD23B Homo sapiens P54727 34591612
Intra
XPC Q01831 RAD23B Homo sapiens P54727 33961781
Intra
XPC Q01831 RAD23B Homo sapiens P54727 34591642
Intra
XPC Q01831 RAD23B Homo sapiens P54727 21962512
Intra
XPC Q01831 RAD23B Homo sapiens P54727
Y2H
10488153
Cross
XPC Q01831 kr2_ebvb9 Epstein-Barr virus P13288 18024891
Cross
XPC Q01831 kr2_ebvb9 Epstein-Barr virus P13288 18024891
Cross
XPC Q01831 kr2_ebvb9 Epstein-Barr virus P13288 18024891
Cross
XPC Q01831 kr2_ebvb9 Epstein-Barr virus P13288
IF
18024891
Cross: Cross-species interaction Intra: Intraspecies interaction

XPC Antibodies

Cat. No. Product Name Application Reactivity
HY-P84461 XPC Antibody (YA4158) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P84461A XPC Antibody (YA4158)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
Xeroderma Pigmentosum, Complementation Group C
  • Xeroderma Pigmentosum, Group C

  • XPC

  • Xpcc

  • Xeroderma Pigmentosum Iii

  • Xp3

  • Xeroderma Pigmentosum Group C

  • Xp Group C

  • Xp, Group C

  • Xeroderma Pigmentosum, Type 3

  • Xeroderma Pigmentosum Complementation Group C

  • XP-C

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Xeroderma Pigmentosum, Complementation Group A
  • Xeroderma Pigmentosum Group A

  • Xp1

  • Xeroderma Pigmentosum, Group A

  • XPA

  • Xeroderma Pigmentosum I

  • Xeroderma Pigmentosum Complementation Group A

  • Xp Group A

  • Xp, Group A

  • Xeroderma Pigmentosum 1

  • Xeroderma Pigmentosum, Type 1

  • XP-A

Cockayne Syndrome
  • Cockayne'S Syndrome

  • Dwarfism-Retinal Atrophy-Deafness Syndrome

  • Neill-Dingwall Syndrome

  • Progeria-Like Syndrome

  • Progeroid Nanism

  • Cs

Xeroderma Pigmentosum, Complementation Group E
  • Xeroderma Pigmentosum V

  • Xp5

  • Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype

  • Xpe

  • Xp, Group E

  • Xeroderma Pigmentosum, Type 5

  • Xeroderma Pigmentosum Complementation Group E

  • XP-E

  • Xp Group E

Trichothiodystrophy
  • Ttd

  • Amish Brittle Hair Syndrome

  • Bids Syndrome

  • Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

  • Ibids

  • Pibids

  • Trichothiodystrophy Syndromes

Li-Fraumeni Syndrome
  • Sarcoma Family Syndrome Of Li And Fraumeni

  • Sbla Syndrome

  • LFS

  • Li-Fraumeni Familiar Cancer Susceptibility Syndrome

  • Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

  • Lfs1

  • Li Fraumeni Syndrome

  • Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

  • Lfl

  • Sbla Syndrome Li-Fraumeni-Like Syndrome

  • Li-Fraumeni Syndrome 1

Prostate Calculus
  • Calculus Of Prostate

  • Prostatic Lithiasis

  • Stone Of Prostate

  • Prostatic Stone

  • Prostate Calculi

  • Prostatolithiasis

Skin Carcinoma
  • Skin Cancer

  • Carcinoma Of Skin

  • Ca - Skin Cancer

  • Cancer Of Skin

  • Malignant Neoplasm Of Skin

  • Melanoma And Non-Melanoma Skin Cancer

  • Skin Cancers

  • Cancer, Skin

Xeroderma Pigmentosum, Complementation Group G
  • Xeroderma Pigmentosum, Group G

  • Xeroderma Pigmentosum Vii

  • Xp7

  • XPG

  • Xeroderma Pigmentosum Group G

  • Xp Group G

  • Xp, Group G

  • Xpgc

  • Xeroderma Pigmentosum, Group G/Cockayne Syndrome

  • Xeroderma Pigmentosum, Type 7

  • Xeroderma Pigmentosum Complementation Group G

  • XP-G

  • Xp-G/Cs

  • Xeroderma Pigmentosum Group G/Cockayne Syndrome

Uv-Sensitive Syndrome
  • Uvss

  • Uv Sensitive Syndrome

  • Ultraviolet Sensitive Syndrome

Cockayne Syndrome A
  • Cockayne Syndrome Type 1

  • Cockayne Syndrome, Type A

  • Cockayne Syndrome Type I

  • CSA

  • Cockayne Syndrome Classic Form

  • Cockayne Syndrome Classical

  • Cockayne Syndrome Type A

  • Ckn1

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus XPC VGNC VGNC:67109
Canis familiaris XPC VGNC VGNC:48456
Mus musculus XPC MGD MGI:103557
Macaca mulatta XPC VGNC VGNC:78809
Rattus norvegicus XPC RGD RGD:1305760
Bos taurus XPC VGNC VGNC:36993
Others XPC NCBI