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

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

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)

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  • 940 a.a.
Protein Preferred Names Protein Names

DNA repair protein complementing XP-C cells

mutant xeroderma pigmentosum group C

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