Human The RNF113A protein was identified as a
phosphoprotein in a human prostate cancer cell line but the function was not tested.
Online Mendelian Inheritance in Man (OMIM) links mutation of RNF113A with
trichothiodystrophy 5, nonphotosensitive. One case study reported a
nonsense mutation resulting from changing a
cytosine to a
thymidine in RNF113A that causes
X-linked recessive trichothiodystrophy. Mothers are the carriers for the disease and display only slightly altered
phenotypes that were linked to the
mutation compared to their more severely affected sons.
Myelodysplastic syndrome and
5q-syndrome have also been linked to an upregulation of ZNF183, an alias of RNF113A. It appears RNF113A may allow for a more stable activated
spliceosome and post-catalytic
spliceosome.
Yeast The yeast
ortholog Cwc24p is predicted to have a
spliceosome function. The protein acts in a complex with Cef1p to process pre-rRNA. The splicing is dependent on the
Zinc finger and
RING finger domains.
Drosophila The
ortholog in
fruit flies has been suggested to act as a
spliceosome. Based on the observed phenotype of incomplete
neuroblast differentiation, the
ortholog is hypothesized to be involved in
splicing namely within the central nervous system. Additional research conclude a
cytosine to
thymidine nonsense mutation such as that of
trichothiodystrophy discussed above has resulted in abnormal development in which tissues of the
ectoderm germ layer are affected. The RNF-113 ortholog has been predicted to function as an
ubiquitin ligase that is involved in DNA repair of inter-strand crosslinks ==Paralog==