Seroatlas · Human Serome Atlas

XPC

DNA repair protein complementing XP-C cells

Also known as: RAD4, XPC_HUMAN, XPCC

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q01831
Gene: XPC
Ensembl: ENSG00000154767
Chromosome: 3
Canonical length: 940 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

940 residues, UniProt reviewed canonical sequence.

>Q01831|XPC
     1  MARKRAAGGE PRGRELRSQK SKAKSKARRE EEEEDAFEDE KPPKKSLLSK VSQGKRKRGC
    61  SHPGGSADGP AKKKVAKVTV KSENLKVIKD EALSDGDDLR DFPSDLKKAH HLKRGATMNE
   121  DSNEEEEESE NDWEEVEELS EPVLGDVRES TAFSRSLLPV KPVEIEIETP EQAKTRERSE
   181  KIKLEFETYL RRAMKRFNKG VHEDTHKVHL LCLLANGFYR NNICSQPDLH AIGLSIIPAR
   241  FTRVLPRDVD TYYLSNLVKW FIGTFTVNAE LSASEQDNLQ TTLERRFAIY SARDDEELVH
   301  IFLLILRALQ LLTRLVLSLQ PIPLKSATAK GKKPSKERLT ADPGGSSETS SQVLENHTKP
   361  KTSKGTKQEE TFAKGTCRPS AKGKRNKGGR KKRSKPSSSE EDEGPGDKQE KATQRRPHGR
   421  ERRVASRVSY KEESGSDEAG SGSDFELSSG EASDPSDEDS EPGPPKQRKA PAPQRTKAGS
   481  KSASRTHRGS HRKDPSLPAA SSSSSSSKRG KKMCSDGEKA EKRSIAGIDQ WLEVFCEQEE
   541  KWVCVDCVHG VVGQPLTCYK YATKPMTYVV GIDSDGWVRD VTQRYDPVWM TVTRKCRVDA
   601  EWWAETLRPY QSPFMDREKK EDLEFQAKHM DQPLPTAIGL YKNHPLYALK RHLLKYEAIY
   661  PETAAILGYC RGEAVYSRDC VHTLHSRDTW LKKARVVRLG EVPYKMVKGF SNRARKARLA
   721  EPQLREENDL GLFGYWQTEE YQPPVAVDGK VPRNEFGNVY LFLPSMMPIG CVQLNLPNLH
   781  RVARKLDIDC VQAITGFDFH GGYSHPVTDG YIVCEEFKDV LLTAWENEQA VIERKEKEKK
   841  EKRALGNWKL LAKGLLIRER LKRRYGPKSE AAAPHTDAGG GLSSDEEEGT SSQAEAARIL
   901  AASWPQNRED EEKQKLKGGP KKTKREKKAA ASHLFPFEQL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against XPC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 31 nTPM

Expression across tissuesHPA

Tissue

skin: 31 nTPM
ovary: 31 nTPM
blood vessel: 28 nTPM
cervix: 28 nTPM
thyroid gland: 27 nTPM
pituitary gland: 26 nTPM

Single-cell type

pituicytes/fscs: 131 nCPM
tuft cells: 115 nCPM
neutrophils: 111 nCPM
corticotrophs: 97 nCPM
somatotrophs: 95 nCPM
proximal tubule cells: 93 nCPM

Immune cell

neutrophil: 74 nTPM
basophil: 42 nTPM
naive CD4 T-cell: 28 nTPM
memory B-cell: 27 nTPM
eosinophil: 27 nTPM
memory CD4 T-cell: 27 nTPM

Brain region

white matter: 25 nTPM
midbrain: 24 nTPM
medulla oblongata: 24 nTPM
hypothalamus: 23 nTPM
basal ganglia: 23 nTPM
pons: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about XPC.

Disease | AllUniProt

Conditions XPC is implicated in, by any mechanism.

Xeroderma pigmentosum complementation group C (XP-C) MIM:278720

Disease | GeneticClinVar

221 pathogenic / likely-pathogenic of 1,161 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Xeroderma pigmentosum, group C
Xeroderma pigmentosum
XPC-related disorder
See cases
Xeroderma pigmentosum group A

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.78
gnomAD pLI: 0
gnomAD missense Z: 0.69
DepMap mean gene effect: 0.01
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

chromatin
cytoplasm
cytosol
mitochondrion
nucleolus
nucleoplasm
nucleotide-excision repair complex
nucleus
plasma membrane
site of DNA damage
XPC complex
nucleotide-excision repair factor 2 complex

Protein domainsUniProt · Pfam · InterPro

Transglutaminase-like superfamily
Papain-like cysteine peptidase superfamily
DNA repair protein Rad4
DNA repair protein Rad4-like
Rad4/PNGase transglutaminase-like fold
Rad4 beta-hairpin domain 1
Rad4 beta-hairpin domain 2
Rad4 beta-hairpin domain 3
Rad4, beta-hairpin domain 3 superfamily
Rad4 transglutaminase-like domain
Rad4 beta-hairpin domain 1
Rad4 beta-hairpin domain 2
Rad4 beta-hairpin domain 3

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of XPC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads XPC as an antibody target. Whether an autoantibody or antibody against XPC could matter depends on whether native XPC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

XPC is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label XPC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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