Xpa xeroderma pigmentosum, complementation group A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Xpaprovided by MGI
Official Full Name: xeroderma pigmentosum, complementation group Aprovided by MGI
Primary source: MGI:MGI:99135
See related: Ensembl:ENSMUSG00000028329 AllianceGenome:MGI:99135
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
Also known as: Xpac
Summary: Predicted to enable DNA binding activity; protein domain specific binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including intrinsic apoptotic signaling pathway in response to DNA damage; nucleotide-excision repair; and positive regulation of transcription initiation by RNA polymerase II. Located in nucleus. Is expressed in forelimb bud. Used to study xeroderma pigmentosum group A. Human ortholog(s) of this gene implicated in xeroderma pigmentosum and xeroderma pigmentosum group A. Orthologous to human XPA (XPA, DNA damage recognition and repair factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 10.5), duodenum adult (RPKM 8.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B1; 4 24.49 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (46175222..46196317, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (46175220..46196344, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model.
Title: Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model.
Autophagy induction on impaired spermatogenesis of xeroderma pigmentosum group A gene-deficient mice.
Title: Autophagy induction on impaired spermatogenesis of xeroderma pigmentosum group A gene-deficient mice.
High levels of oxidatively generated DNA damage 8,5'-cyclo-2'-deoxyadenosine accumulate in the brain tissues of xeroderma pigmentosum group A gene-knockout mice. There were significantly more cyclo-dA lesions in Xpa(-/-) mice than in wt mice at 6, 24 and 29 months of age.
Title: High levels of oxidatively generated DNA damage 8,5'-cyclo-2'-deoxyadenosine accumulate in the brain tissues of xeroderma pigmentosum group A gene-knockout mice.
The authors' results suggest that lack of the DNA repair factor XPA may delay neurobehavioral recovery after TBI
Title: Delayed neuromotor recovery and increased memory acquisition dysfunction following experimental brain trauma in mice lacking the DNA repair gene XPA.
Oxidized glycerophosphocholines play a pivotal role in the photosensitivity associated with the deficiency of XPA.
Title: Platelet-activating factor receptor agonists mediate xeroderma pigmentosum A photosensitivity.
The tissue-specific effect of Xpa deficiency represents a novel finding; it suggests that tissue-to-tissue variation in CAG repeat instability arises, in part, by different underlying mechanisms.
Title: Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1.
The circadian oscillation of XPA is achieved both by regulation of transcription by the core circadian clock proteins including cryptochrome and by regulation at the posttranslational level by the HERC2 ubiquitin ligase.
Title: Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase.
Impaired spermatogenesis and elevated spontaneous tumorigenesis is associated with xeroderma pigmentosum group A gene deficient mice
Title: Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice.
the Xpa/p53 model is an excellent adjunct to the current chronic rodent bioassay.
Title: DNA repair-deficient Xpa/p53 knockout mice are sensitive to the non-genotoxic carcinogen cyclosporine A: escape of initiated cells from immunosurveillance?
Xpa-/- keratinocytes (complete nucleotide excision repair deficiency) show a rapid depletion of DNA replicating S-phase cells, a transient increase in quiescent S-phase cells (not replicating DNA), followed by massive apoptosis.
Title: Selective DNA damage responses in murine Xpa-/-, Xpc-/- and Csb-/- keratinocyte cultures.

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 (1) 1 citation
Targeted (3) 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 damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in UV protection	ISO Inferred from Sequence Orthology more info
involved_in UV-damage excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in base-excision repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction 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 nucleotide-excision repair involved in interstrand cross-link repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleotide-excision repair, DNA damage recognition	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription initiation by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization to nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to toxic substance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of DNA replication factor A complex	ISO Inferred from Sequence Orthology more info
part_of DNA replication factor A complex	ISS Inferred from Sequence or Structural Similarity more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of nucleotide-excision repair factor 1 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

General protein information

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

Names: xeroderma pigmentosum group A-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_001424855.1 → NP_001411784.1 DNA repair protein complementing XP-A cells homolog isoform 2

Status: VALIDATED

Source sequence(s)

AL806523
NM_001424856.1 → NP_001411785.1 DNA repair protein complementing XP-A cells homolog isoform 3

Status: VALIDATED

Source sequence(s)

AL806523
NM_001424857.1 → NP_001411786.1 DNA repair protein complementing XP-A cells homolog isoform 4

Status: VALIDATED

Source sequence(s)

AL806523
NM_011728.3 → NP_035858.2 DNA repair protein complementing XP-A cells homolog isoform 1

See identical proteins and their annotated locations for NP_035858.2

Status: VALIDATED

Source sequence(s)

AL806523

Consensus CDS

CCDS18146.1

UniProtKB/Swiss-Prot

A2ALZ7, Q64267, Q9CVA0

Related

ENSMUSP00000030013.6, ENSMUST00000030013.12

Conserved Domains (3) summary

TIGR00598
Location:104 → 272

rad14; DNA repair protein

pfam01286
Location:103 → 132

XPA_N; XPA protein N-terminal

pfam05181
Location:134 → 185

XPA_C; XPA protein C-terminus