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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

zf-C3HC4_4: zinc finger of C3HC4-type, RING (21 - 62)

SPRY

SPRY: SPRY domain (310 - 417)

  • 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 References
Intra
RNF135 Q8IUD6 CTBP2 Homo sapiens P56545-3 32296183
Intra
RNF135 Q8IUD6 CTBP2 Homo sapiens P56545-3 32296183
Intra
RNF135 Q8IUD6 TEPSIN Homo sapiens Q96N21 32296183
Intra
RNF135 Q8IUD6 TEPSIN Homo sapiens Q96N21 32296183
Intra
RNF135 Q8IUD6 TEPSIN Homo sapiens Q96N21 32296183
Intra
RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7 33961781
Intra
RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7 25416956
Intra
RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7 32296183
Intra
RNF135 Q8IUD6 CTNNAL1 Homo sapiens Q9UBT7 25416956
Intra
RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379 25416956
Intra
RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379 32296183
Intra
RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379 25416956
Intra
RNF135 Q8IUD6 GOLGA2 Homo sapiens Q08379 32296183
Intra
RNF135 Q8IUD6 HSF2BP Homo sapiens O75031 32296183
Intra
RNF135 Q8IUD6 HSF2BP Homo sapiens O75031 32296183
Intra
RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6 32296183
Intra
RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6 32296183
Intra
RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6 25416956
Intra
RNF135 Q8IUD6 RNF135 Homo sapiens Q8IUD6 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

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