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

Homo sapiens

Also known as XP3; RAD4; XPCC; p125

Gene ID: 7508 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

BHD_1

BHD_2

BHD_3

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	XPC	Q01831	ERCC3	Homo sapiens	P19447	Anti Tag CoIP	34591642
Intra	XPC	Q01831	ERCC3	Homo sapiens	P19447	Pull Down	10734143
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	34591612
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	34591642
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Pull Down	21962512
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	33961781
Intra	XPC	Q01831	CETN2	Homo sapiens	P41208	Anti Tag CoIP	28514442
Intra	XPC	Q01831	PSMC5	Homo sapiens	P62195	Pull Down	17693435
Intra	XPC	Q01831	GTF2H1	Homo sapiens	P32780	Anti Tag CoIP	34591642
Intra	XPC	Q01831	GTF2H1	Homo sapiens	P32780	Pull Down	10734143
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Anti Tag CoIP	34591612
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Anti Tag CoIP	33961781
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Anti Tag CoIP	34591642
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Affinity Chrom	21962512
Intra	XPC	Q01831	RAD23B	Homo sapiens	P54727	Y2H	10488153
Cross	XPC	Q01831	kr2_ebvb9	Epstein-Barr virus	P13288	Pull Down	18024891
Cross	XPC	Q01831	kr2_ebvb9	Epstein-Barr virus	P13288	Anti Bait CoIP	18024891
Cross	XPC	Q01831	kr2_ebvb9	Epstein-Barr virus	P13288	Anti Tag CoIP	18024891
Cross	XPC	Q01831	kr2_ebvb9	Epstein-Barr virus	P13288	IF	18024891

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128772	XPC-6444	Inhibitor	98.85%	Unkown
HY-157784	XPC-7724	Inhibitor	99.83%	Unkown
HY-RS15885	XPC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-157786	XPC-5462	Inhibitor	/	Unkown

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

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