The function of this protein domain family is yet to be characterised. It is putatively thought to lie in the C-terminal domain of the DNA nucleotide repair protein, Xeroderma pigmentosa complementation group A (XPA). The function of XPA is to bind to DNA and repair any mismatched base pairs. This domain family is often found in eukaryotes, and is approximately 70 amino acids in length. There is a conserved DPE sequence motif. In humans, this protein is encoded for in the chromosomal position, Chromosome 5 open reading frame 65. Mutations in the gene lead to myelodysplastic syndromes, where there is inefficient stem cell production in the bone marrow. This suggests that the protein may have a role in forming blood cells [[cite:PUB00067380]].
","llm":false,"checked":false,"updated":false}],"wikipedia":[{"title":"Domain_of_unknown_function","extract":"A domain of unknown function (DUF) is a protein domain that has no characterised function. These families have been collected together in the Pfam database using the prefix DUF followed by a number, with examples being DUF2992 and DUF1220. As of 2019, there are almost 4,000 DUF families within the Pfam database representing over 22% of known families. Some DUFs are not named using the nomenclature due to popular usage but are nevertheless DUFs.
","thumbnail":null}],"literature":{"PUB00067380":{"PMID":19240791,"ISBN":null,"volume":"4","issue":"2","year":2009,"title":"Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.","URL":null,"raw_pages":"e4583","medline_journal":"PLoS One","ISO_journal":"PLoS ONE","authors":["Graubert TA","Payton MA","Shao J","Walgren RA","Monahan RS","Frater JL","Walshauser MA","Martin MG","Kasai Y","Walter MJ."],"DOI_URL":"http://dx.doi.org/10.1371/journal.pone.0004583"}},"set_info":null,"overlaps_with":null,"counters":{"subfamilies":0,"domain_architectures":10,"interactions":0,"matches":1772,"pathways":0,"proteins":1772,"proteomes":702,"sets":0,"structural_models":{"alphafold":455},"structures":0,"taxa":2139},"entry_annotations":{"hmm":0,"logo":0,"alignment:seed":10,"alignment:full":1362},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}