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UniProt functional annotation for P13051 | ||
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| UniProt code: P13051. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine. |
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| Catalytic activity: | |
Reaction=Hydrolyzes single-stranded DNA or mismatched double-stranded DNA and polynucleotides, releasing free uracil.; EC=3.2.2.27; Evidence={ECO:0000255|HAMAP-Rule:MF_03166}; |
| Subunit: | |
Monomer. Interacts with FAM72A. {ECO:0000255|HAMAP- Rule:MF_03166, ECO:0000269|PubMed:18676834}. |
| Subunit: | |
(Microbial infection) Interacts with HIV-1 Vpr. {ECO:0000269|PubMed:8551605}. |
| Subcellular location: | |
[Isoform 1]: Mitochondrion. |
| Subcellular location: | |
[Isoform 2]: Nucleus. |
| Tissue specificity: | |
Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. Isoform 2 has the highest expression levels in tissues containing proliferating cells. |
| Ptm: | |
Isoform 1 is processed by cleavage of a transit peptide. |
| Disease: | |
Immunodeficiency with hyper-IgM 5 (HIGM5) [MIM:608106]: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. {ECO:0000269|PubMed:12958596, ECO:0000269|PubMed:15967827}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the uracil-DNA glycosylase (UDG) superfamily. UNG family. {ECO:0000255|HAMAP-Rule:MF_03166}. |
Annotations taken from UniProtKB at the EBI.