Xpc xeroderma pigmentosum, complementation group C [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xpcprovided by MGI
Official Full Name: xeroderma pigmentosum, complementation group Cprovided by MGI
Primary source: MGI:MGI:103557
See related: Ensembl:ENSMUSG00000030094 AllianceGenome:MGI:103557
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and damaged DNA binding activity. Involved in UV-damage excision repair and nucleotide-excision repair. Acts upstream of or within mitotic intra-S DNA damage checkpoint signaling; pyrimidine dimer repair by nucleotide-excision repair; and response to UV-B. Located in nucleus. Is active in site of DNA damage. Is expressed in embryo. Used to study lung cancer and xeroderma pigmentosum group C. Human ortholog(s) of this gene implicated in pancreatic cancer; serous cystadenocarcinoma; xeroderma pigmentosum; and xeroderma pigmentosum group C. Orthologous to human XPC (XPC complex subunit, DNA damage recognition and repair factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 5.6), kidney adult (RPKM 5.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 D1; 6 40.55 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (91466287..91492870, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (91489305..91515888, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vitamin D Receptor Promotes Global Nucleotide Excision Repair by Facilitating XPC Dissociation from Damaged DNA.
Title: Vitamin D Receptor Promotes Global Nucleotide Excision Repair by Facilitating XPC Dissociation from Damaged DNA.
results suggest that XPC may help repair DNA damage caused by KRAS-mediated production of ROS.
Title: Genetic Evidence for XPC-KRAS Interactions During Lung Cancer Development.
OCT4 and SOX2 are the primary transcription factors recruiting SCC to regulatory regions of pluripotency genes; the XPC subunit is essential for interaction with the two proteins
Title: Functional and mechanistic studies of XPC DNA-repair complex as transcriptional coactivator in embryonic stem cells.
progerin and p16(INK4a) expression, beta-galactosidase activity, and reactive oxygen species, which increase with age, were higher in young Xpc(-/-) mice than in young Xpc(+/+) ones
Title: Premature skin aging features rescued by inhibition of NADPH oxidase activity in XPC-deficient mice.
Study indicates that Xpc(-/-) mice have an increased mutational load upon induction of oxidative stress. The effect of non-functional XPC in vivo appears to have implications in mutagenesis, which can contribute to the carcinogenesis process.
Title: Slow accumulation of mutations in Xpc-/- mice upon induction of oxidative stress.
The C-terminal region of Xpc is dispensable for the transcriptional activity of Oct3/4 in mouse embryonic stem cells.
Title: The C-terminal region of Xpc is dispensable for the transcriptional activity of Oct3/4 in mouse embryonic stem cells.
BRAF(V600E) and ARF deletion synergize to inhibit nucleotide excision repair by epigenetically repressing XPC.
Title: Loss of ARF sensitizes transgenic BRAFV600E mice to UV-induced melanoma via suppression of XPC.
Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a cs-b xp-c murine model of Cockayne syndrome
Title: Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome.
these results indicate that there may be diverse roles or mechanisms through which XPC participates in genome maintenance in different tissues.
Title: XPC is involved in genome maintenance through multiple pathways in different tissues.
results point to an important 'care-taker'-type tumour-suppression function for alternative reading frame in nucleotide excision repair through the increased expression of XPC.
Title: ARF stimulates XPC to trigger nucleotide excision repair by regulating the repressor complex of E2F4.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in UV-damage excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in UV-damage excision repair	ISO Inferred from Sequence Orthology more info
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitotic intra-S DNA damage checkpoint signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of gluconeogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pyrimidine dimer repair by nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic cell cycle phase transition	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle phase transition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to UV-B	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to auditory stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of XPC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of XPC complex	ISO Inferred from Sequence Orthology more info
part_of XPC complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of nucleotide-excision repair complex	ISO Inferred from Sequence Orthology more info
part_of nucleotide-excision repair complex	ISS Inferred from Sequence or Structural Similarity more info
part_of nucleotide-excision repair factor 2 complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in site of DNA damage	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA repair protein complementing XP-C cells homolog

Names: p125; xeroderma pigmentosum group C-complementing protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009531.2 → NP_033557.2 DNA repair protein complementing XP-C cells homolog

See identical proteins and their annotated locations for NP_033557.2

Status: VALIDATED

Source sequence(s)

AK028595, BY238377, DV645509

Consensus CDS

CCDS39569.1

UniProtKB/Swiss-Prot

P51612, P54732, Q3TKI2, Q920M1, Q9DBW7

UniProtKB/TrEMBL

Q7TSZ1

Related

ENSMUSP00000032182.4, ENSMUST00000032182.5

Conserved Domains (6) summary

smart01032
Location:744 → 818

BHD_3; Rad4 beta-hairpin domain 3

smart01030
Location:623 → 674

BHD_1; Rad4 beta-hairpin domain 1

smart01031
Location:677 → 736

BHD_2; Rad4 beta-hairpin domain 2

PHA03249
Location:345 → 455

PHA03249; DNA packaging tegument protein UL25; Provisional

TIGR00605
Location:143 → 859

rad4; DNA repair protein rad4

pfam03835
Location:501 → 619

Rad4; Rad4 transglutaminase-like domain