RNF135 - ring finger protein 135 Gene

Homo sapiens

Also known as L13; MMFD; REUL; Riplet

Gene ID: 84282 | Gene type: protein coding

About RNF135

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,958,921-30,999,911 (from NCBI)

This gene has 6 transcripts (splice variants), 75 orthologues, 12 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 5.5), spleen (RPKM 5.5) and 25 other tissues.

Summary

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]

RNF135 Products(3)

mRNA	Protein	Name
NM_001184992.2	NP_001171921.1	E3 ubiquitin-protein ligase RNF135 isoform 3
NM_032322.4	NP_115698.3	E3 ubiquitin-protein ligase RNF135 isoform 1
NM_197939.2	NP_922921.1	E3 ubiquitin-protein ligase RNF135 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RIG-I binding	IPI IPI: Inferred from physical interaction	23950712	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19017631	GOA
enables ribonucleoprotein complex binding	IDA IDA: Inferred from direct assay	31006531	GOA
enables ribonucleoprotein complex binding	IPI IPI: Inferred from physical interaction	19881509	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	31006531	GOA
enables ubiquitin-protein transferase activity	EXP EXP: Inferred from Experiment	17392790	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	19484123	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in RIG-I signaling pathway	IDA IDA: Inferred from direct assay	23950712	GOA
involved in RIG-I signaling pathway	IMP IMP: Inferred from mutant phenotype	28469175	GOA
involved in antiviral innate immune response	IMP IMP: Inferred from mutant phenotype	28469175	GOA
involved in free ubiquitin chain polymerization	IDA IDA: Inferred from direct assay	31006531	GOA
involved in positive regulation of interferon-beta production	IMP IMP: Inferred from mutant phenotype	19017631	GOA
involved in protein K63-linked ubiquitination	IDA IDA: Inferred from direct assay	31006531	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	31006531	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	31006531	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	19017631	GOA
involved in regulation of innate immune response	IMP IMP: Inferred from mutant phenotype	19017631	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19484123	GOA
located in cytoplasmic stress granule	IDA IDA: Inferred from direct assay	23950712	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	31006531	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RNF135 Protein Structure

zf-C3HC4_4

SPRY

0
100
200
300
400
432 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase RNF135

RIG-I E3 ubiquitin ligase

Related Diseases

Diseases

Alias

Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Neurofibromatosis

Neurofibromatoses	Acoustic Neurofibromatosis
Central Neurofibromatosis	Peripheral Neurofibromatosis
Recklinghausen'S Neurofibromatosis	Von Reklinghausen Disease
Neurofibromatosis Type 1

Chromosome 17q11.2 Deletion Syndrome

Nf1 Microdeletion Syndrome	17q11 Microdeletion Syndrome
Neurofibromatosis Type 1 Microdeletion Syndrome	Van Asperen Syndrome
Del(17)(Q11)	Monosomy 17q11
Chromosome 17q11.2 Deletion Syndrome, 1.4mb

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome	Cree Encephalitis
Aicardi-Goutières Syndrome	Encephalopathy With Basal Ganglia Calcification
Ags	Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
Pseudotoxoplasmosis Syndrome	Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12049	RNF135 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RNF135	VGNC	VGNC:82296
Bos taurus	RNF135	VGNC	VGNC:57150
Rattus norvegicus	RNF135	RGD	RGD:1305252
Mus musculus	RNF135	MGD	MGI:1919206
Others	RNF135	NCBI

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