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RNF135 - ring finger protein 135 Gene

Also Known as L13; MMFD; REUL; Riplet

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84282

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	Verweise	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	Verweise	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	Verweise	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

RNF135 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	RNF135	Q8IUD6	CTBP2	Homo sapiens	P56545-3	Y2H Prey Pooling	32296183
Intra	RNF135	Q8IUD6	CTBP2	Homo sapiens	P56545-3	Y2H Array	32296183
Intra	RNF135	Q8IUD6	TEPSIN	Homo sapiens	Q96N21	Y2H Array	32296183
Intra	RNF135	Q8IUD6	TEPSIN	Homo sapiens	Q96N21	Validated Y2H	32296183
Intra	RNF135	Q8IUD6	TEPSIN	Homo sapiens	Q96N21	Y2H Prey Pooling	32296183
Intra	RNF135	Q8IUD6	CTNNAL1	Homo sapiens	Q9UBT7	Anti Tag CoIP	33961781
Intra	RNF135	Q8IUD6	CTNNAL1	Homo sapiens	Q9UBT7	Validated Y2H	25416956
Intra	RNF135	Q8IUD6	CTNNAL1	Homo sapiens	Q9UBT7	Validated Y2H	32296183
Intra	RNF135	Q8IUD6	CTNNAL1	Homo sapiens	Q9UBT7	Y2H Array	25416956
Intra	RNF135	Q8IUD6	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	25416956
Intra	RNF135	Q8IUD6	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	RNF135	Q8IUD6	GOLGA2	Homo sapiens	Q08379	Y2H Array	25416956
Intra	RNF135	Q8IUD6	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	RNF135	Q8IUD6	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	RNF135	Q8IUD6	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	RNF135	Q8IUD6	RNF135	Homo sapiens	Q8IUD6	Y2H Prey Pooling	32296183
Intra	RNF135	Q8IUD6	RNF135	Homo sapiens	Q8IUD6	Validated Y2H	32296183
Intra	RNF135	Q8IUD6	RNF135	Homo sapiens	Q8IUD6	Y2H Array	25416956
Intra	RNF135	Q8IUD6	RNF135	Homo sapiens	Q8IUD6	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12049	RNF135 Human Pre-designed siRNA Set A	Pre-designed Set	/	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