RNF135 gene

ring finger protein 135

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene 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. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

From UniProt:

Acts as an E2-dependent E3 ubiquitin-protein ligase, involved in innate immune defense against viruses. Ubiquitinates DDX58 and is required for full activation of the DDX58 signaling resulting in interferon beta production.

From NCBI Gene:

  • Macrocephaly, macrosomia, facial dysmorphism syndrome

From UniProt:

Macrocephaly, macrosomia, facial dysmorphism syndrome (MMFD): An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. [MIM:614192]

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 30,968,642 to 30,999,911 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2
  • L13
  • MMFD
  • REUL
  • Riplet