RNF138
Description
The RNF138 (ring finger protein 138) is a protein-coding gene located on chromosome 18.
RNF138 is an E3 ubiquitin ligase that plays a role in DNA damage response by promoting DNA resection and homologous recombination (HR). It is recruited to sites of double-strand breaks (DSBs) and specifically promotes DSB repair through HR. Two non-exclusive mechanisms have been proposed. First, RNF138 can mediate the ubiquitination of XRCC5/Ku80, leading to the removal of the Ku complex from DNA breaks, thereby promoting HR over non-homologous end joining (NHEJ). Second, RNF138 can cooperate with UBE2Ds E2 ubiquitin ligases (UBE2D1, UBE2D2, UBE2D3 or UBE2D4) to promote HR by mediating ubiquitination of RBBP8/CtIP. In addition to its role in DNA damage response, RNF138, along with NLK, is involved in the ubiquitination and degradation of TCF/LEF, potentially acting as a negative regulator in the Wnt/beta-catenin-mediated signaling pathway.
RNF138 is also known as HSD-4, NARF, STRIN, hNARF.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spinocerebellar ataxia type 32
- spermatogenic failure 25
- spermatogenic failure, X-linked, 2
- isolated congenital hypogonadotropic hypogonadism
- spermatogenic failures 50
- isochromosomy Yp
- congenital bilateral absence of vas deferens
- spermatogenic failure 63
- 46,XX testicular disorder of sex development
- isochromosomy Yq
- partial androgen insensitivity syndrome
- Kennedy disease
- spermatogenic failure 44
- spermatogenic failure 48
