RLIM

The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

Full Name

Ring finger protein, LIM domain interacting

Function

E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex. Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of TERF1. By targeting ZFP42 for degradation, acts as an activator of random inactivation of X chromosome in the embryo, a stochastic process in which one X chromosome is inactivated to minimize sex-related dosage differences of X-encoded genes in somatic cells of female placental mammals.

Biological Process

Biological Process negative regulation of DNA-binding transcription factor activityIEA:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IIIEA:Ensembl
Biological Process negative regulation of transcription, DNA-templated1 PublicationNAS:UniProtKB
Biological Process protein ubiquitinationISS:UniProtKB
Biological Process random inactivation of X chromosomeManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of dosage compensation by inactivation of X chromosomeManual Assertion Based On ExperimentIBA:GO_Central
Biological Process ubiquitin-dependent protein catabolic processISS:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Tonne-Kalscheuer syndrome (TOKAS):
An X-linked recessive disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioral abnormalities, abnormal gait, dysmorphic facial features, limb anomalies, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities.