 XPGIXeroderma pigmentosum G I-region | |
|---|---|
| SMART ACC: | SM000484 |
| Description: | domain in nucleases |
| InterPro ACC: | IPR006086 |
| InterPro abstract: | This entry represents a domain found on Xeroderma Pigmentosum Complementation Group G (XPG) protein [ PUBMED:8206890 ]. XPG is a DNA endonuclease involved in DNA excision repair [ PUBMED:8078765 ]. The internal XPG (XPG-I) domain contains many … expand |
| GO function: | nuclease activity (GO:0004518) |
| Family alignment: | View the Family alignment or the Alignment consensus sequence |
| There are 7 650 XPGI domains in 7 639 proteins in SMART's NRDB database. | |
Taxonomic distribution of proteins containing XPGI domains
The tree below includes only several representative species and genera. The complete taxonomic breakdown of all proteins containing XPGI domains can be accessed here. Click the counts or percentage values to display the corresponding proteins.
Relevant references for this domain
Primary literature for the XPGI domain is listed below. Automatically-derived, secondary literature is also available.
Disease genes where sequence variants are found in this domain
UniRef sequences and OMIM curated human diseases associated with missense mutations within the XPGI domain.
| Protein | Description | Disease / phenotype |
|---|---|---|
| ERCC5_HUMAN | OMIM:133530 : Xeroderma pigmentosum, group G | |
| OMIM:278780 : no description |
KEGG pathways involving proteins which contain this domain
This information is based on the mapping of SMART genomic protein database to KEGG orthologous groups. Percentages are related to the number of proteins containing a XPGI domain which could be assigned to a KEGG orthologous group, and not all proteins containing XPGI domains. Please note that proteins can be included in multiple pathways, ie. the numbers below will not add to 100%.