geno logo
     HELP     Sign In

Quick Links

TOOLS
Search

Relevance to Autism

Rare mutations in the XPC gene have been identified with autism (Khan et al., 1998). In addition, XPC mutations have been found to be identified with xeroderma pigmentosum (syndromic with autism), where a subpopulation of individuals with XP develop autism.

Molecular Function

This gene encodes a component of the nucleotide excision repair (NER) pathway. It acts as a damage-sensing and DNA-binding factor component of the XPC complex.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
Xeroderma pigmentosum
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
Epilepsy/seizures
Support
Integrating de novo and inherited variants in 42
ASD
Highly Cited
The DNA repair-ubiquitin-associated HR23 proteins are constituents of neuronal inclusions in specific neurodegenerative disorders without hampering...
Highly Cited
Structure of a peptide:N-glycanase-Rad23 complex: insight into the deglycosylation for denatured glycoproteins.
Highly Cited
UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex.
Highly Cited
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.
Xeroderma pigmentosum
Recent Recommendation
High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC.
Recent Recommendation
Two human homologs of Rad23 are functionally interchangeable in complex formation and stimulation of XPC repair activity.
Recent Recommendation
HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN267R001 
 splice_site_variant 
 T>G 
 IVS9DS 
 Unknown 
  
 Unknown 
 GEN267R002 
 splice_site_variant 
 c.1761+1G>A 
  
 Familial 
 Paternal 
 Multiplex 
 GEN267R003 
 stop_gained 
 c.406-54C>T 
  
 Familial 
 Maternal 
 Multiplex 
 GEN267R004 
 splice_region_variant 
 c.408G>A 
 p.Ala136= 
 De novo 
  
  
 GEN267R005 
 missense_variant 
 c.2047A>C 
 p.Thr683Pro 
 De novo 
  
 Multiplex 
 GEN267R006 
 stop_gained 
 c.1615G>T 
 p.Glu539Ter 
 De novo 
  
  
 GEN267R007 
 synonymous_variant 
 c.1569A>G 
 p.Arg523%3D 
 De novo 
  
  
 GEN267R008 
 intron_variant 
 c.-44+8A>G 
  
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 2
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 

No Animal Model Data Available





Download XPC's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ALX3 Homeobox protein aristaless-like 3 257 O95076 IP; LC-MS/MS
Huttlin EL , et al. 2015
APLF Aprataxin and PNK-like factor 200558 Q8IW19 IP; LC-MS/MS
Huttlin EL , et al. 2015
APOBEC3C DNA dC->dU-editing enzyme APOBEC-3C 27350 Q9NRW3 IP; LC-MS/MS
Huttlin EL , et al. 2015
ATM ataxia telangiectasia mutated 472 Q13315 IP/WB
Ray A , et al. 2009
BANF1 barrier to autointegration factor 1 8815 O75531 Affinity chromatography
Montes de Oca R , et al. 2009
CDK7 cyclin-dependent kinase 7 1022 P50613 IP/WB
Arajo SJ , et al. 2001
CETN1 Centrin-1 1068 Q12798 IP; LC-MS/MS
Huttlin EL , et al. 2015
CETN2 centrin, EF-hand protein, 2 1069 P41208 Affinity chromatography; IP/WB; in vitro binding assay
Araki M , et al. 2001
CETN2 centrin, EF-hand protein, 2 1069 P41208 IP; LC-MS/MS
Huttlin EL , et al. 2015
CETN3 centrin, EF-hand protein, 3 1070 O15182 IP; LC-MS/MS
Huttlin EL , et al. 2015
CHD1L chromodomain helicase DNA binding protein 1-like 9557 B4DPN5 IP; LC-MS/MS
Huttlin EL , et al. 2015
CSNK2A2 casein kinase 2, alpha prime polypeptide 1459 P19784 IP; LC-MS/MS
Huttlin EL , et al. 2015
DDB1 damage-specific DNA binding protein 1, 127kDa 1642 Q16531 IP/WB; in vitro binding assay
Sugasawa K , et al. 2005
DDB2 damage-specific DNA binding protein 2, 48kDa 1643 Q92466 IP/WB; in vitro binding assay
Sugasawa K , et al. 2005
ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) 2071 P19447 GST
Yokoi M , et al. 2000
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
H2AFX H2A histone family, member X 3014 P16104 IP; LC-MS/MS
Huttlin EL , et al. 2015
H2AFY H2A histone family, member Y 9555 O75367 IP; LC-MS/MS
Huttlin EL , et al. 2015
H2AFY2 Core histone macro-H2A.2 55506 Q9P0M6 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 3091 Q16665 ChIP; Luciferase reporter assay; EMSA
Rezvani HR , et al. 2009
HIST1H2AG histone cluster 1, H2ag 8969 A4FTV9 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST1H2BA Histone H2B type 1-A 255626 Q96A08 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST1H2BD histone cluster 1, H2bd 3017 P58876 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST1H2BO histone cluster 1, H2bo 8348 P23527 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST1H3A histone cluster 1, H3a 8350 P68431 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST2H2AB histone cluster 2, H2ab 317772 Q8IUE6 IP; LC-MS/MS
Huttlin EL , et al. 2015
HIST2H4A histone cluster 2, H4a 8370 B2R4R0 IP; LC-MS/MS
Huttlin EL , et al. 2015
HMGB1 high-mobility group box 1 3146 P09429 EMSA; Affinity chromatography
Lange SS , et al. 2009
LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) 27258 P62310 Y2H
Lehner B and Sanderson CM 2004
MACROD1 MACRO domain containing 1 28992 Q9BQ69 IP; LC-MS/MS
Huttlin EL , et al. 2015
NAA40 N-alpha-acetyltransferase 40 79829 Q86UY6 IP; LC-MS/MS
Huttlin EL , et al. 2015
PARP1 poly (ADP-ribose) polymerase 1 142 P09874 IP; LC-MS/MS
Huttlin EL , et al. 2015
PARP2 poly (ADP-ribose) polymerase 2 10038 Q9UGN5 IP; LC-MS/MS
Huttlin EL , et al. 2015
POLB DNA polymerase beta 5423 P06746 IP; LC-MS/MS
Huttlin EL , et al. 2015
RAD23A RAD23 homolog A (S. cerevisiae) 5886 P54725 Y2H
Li L , et al. 1997
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 Affinity chromatography
Araki M , et al. 2001
RAD23B RAD23 homolog B (S. cerevisiae) 5887 P54727 IP; LC-MS/MS
Huttlin EL , et al. 2015
RB1 retinoblastoma 1 5925 P06400 IP/WB
Hardy TM , et al. 2010
RNF146 ring finger protein 146 81847 Q9NTX7 IP; LC-MS/MS
Huttlin EL , et al. 2015
RPA2 replication protein A2, 32kDa 6118 P15927 IP; LC-MS/MS
Huttlin EL , et al. 2015
RPA4 Replication protein A 30 kDa subunit 29935 Q13156 IP; LC-MS/MS
Huttlin EL , et al. 2015
SDC2 syndecan 2 6383 P34741 IP; LC-MS/MS
Huttlin EL , et al. 2015
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 6598 Q12824 IP/WB
Ray A , et al. 2009
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 23583 Q53HV7 GST
Shimizu Y , et al. 2010
SPIN2B Spindlin-2B 474343 Q9BPZ2 IP; LC-MS/MS
Huttlin EL , et al. 2015
SSRP1 structure specific recognition protein 1 6749 Q08945 IP; LC-MS/MS
Huttlin EL , et al. 2015
SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) 7341 P63165 IP/WB
Wang QE , et al. 2005
SUPT16H suppressor of Ty 16 homolog (S. cerevisiae) 11198 Q9Y5B9 IP; LC-MS/MS
Huttlin EL , et al. 2015
TDG thymine-DNA glycosylase 6996 Q13569 Y2H; GST; EMSA
Shimizu Y , et al. 2002
TSEN2 tRNA splicing endonuclease 2 homolog (S. cerevisiae) 80746 Q8NCE0 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 IP/WB; in vitro ubiquitination assay
Sugasawa K , et al. 2005
UBE4B ubiquitination factor E4B 10277 O95155 IP/WB
Li Y , et al. 2009
WDR76 WD repeat domain 76 79968 Q9H967 IP; LC-MS/MS
Huttlin EL , et al. 2015
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 2547 P12956 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF428 zinc finger protein 428 126299 I6L9C8 IP; LC-MS/MS
Huttlin EL , et al. 2015
E2f4 E2F transcription factor 4 104394 Q8R0K9 ChIP; Luciferase reporter assay
Dominguez-Brauer C , et al. 2009

HELP
Copyright © 2017 MindSpec, Inc.