background:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF135 (RING finger protein 135), also known as L13, is a 432 amino acid protein that contains one RING-type zinc finger and one SPRY domain. Via its RING-type zinc finger, RNF135 may play a role in transcriptional regulation and protein degradation events. Defects in the gene encoding RNF135 are the cause of RNF135-related overgrowth syndrome which is characterized by learning disabilities, facial dysmorphism and increased weight and height. Multiple isoforms of RNF135 exist due to alternative splicing events.
Function:
The protein encoded by RNF135 contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis.
Subunit:
Interacts with DDX58. Interacts with PCBP2.
Subcellular Location:
Cytoplasmic
Tissue Specificity:
Expressed in skeletal muscle, spleen, kidney,placenta, prostate, stomach, thyroid and tongue. Also weaklyexpressed in heart, thymus, liver and lung.
Post-translational modifications:
Defects in RNF135 are the cause of macrocephalymacrosomia facial dysmorphism syndrome (MMFD) [MIM:614192]. MMFD isan autosomal dominant disorder characterized by the association ofmacrothrombocytopathy and progressive sensorineural hearing losswithout renal dysfunction.
Similarity:
Contains 1 B30.2/SPRY domain.
Contains 1 RING-type zinc finger.
Database links:
UniProtKB/Swiss-Prot: Q8IUD6.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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