Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

RNF135

contributors: mct - updated : 28-11-2014

HGNC name	ring finger protein 135
HGNC id	21158

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	41.62 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

in a chromosomal region frequently deleted in patients with neurofibromatosis

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032322 5 splicing 2195 NP_115698 47 432 - 2001 1146869 NM_197939 4 splicing 2032 NP_922921 22 210 - 2001 1146869 lacking an exon within the coding region compared to variant 1 which causes a translation frameshift NM_001184992 6 - 2254 NP_001171921 - 285 - 2001 1146869

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Endocrine parathyroid       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal RING finger domain,
	a RING finger domain, involved in protein-protein and protein-DNA interactions
	a B30.2/SPRY domain at the C terminus, and PRY motifs

HOMOLOGY

interspecies	homolog to rattus Rnf135 (63.7 pc)
	homolog to murine Rnf135 (61.2 pc)

Homologene

FAMILY

zinc finger family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	acting as an ubiquitin ligase
	RNF135 is a novel factor of the DDX58 pathway involved in the evoking of human innate immunity against RNA virus infection, and activates DDX58 through ubiquitination of its C-terminal region
	is an E3 ubiquitin ligase of DDX58 and specifically stimulates DDX58-mediated innate antiviral activity.
	is essential for regulating DDX58-mediated innate immune response against RNA virus infection
	involvement of RNF135 and ADAP2 in the increased risk of malignancy observed in NF1-microdeleted patients

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein	interacting with DDX58
	RNF135 was dispensable for DDX58 RNA binding activity but required for TRIM25 to activate DDX58

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NF1DEL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in tumor Schwann cells from malignant peripheral nerve sheath tumors (MPNSTs) biopsies and in MPNST cell line

Susceptibility

Variant & Polymorphism

Candidate gene	overgrowth
Marker
Therapy target

ANIMAL & CELL MODELS