RNF135 ring finger protein 135 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF135provided by HGNC
Official Full Name: ring finger protein 135provided by HGNC
Primary source: HGNC:HGNC:21158
See related: Ensembl:ENSG00000181481 MIM:611358; AllianceGenome:HGNC:21158
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: L13; MMFD; REUL; Riplet
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]
Expression: Ubiquitous expression in kidney (RPKM 5.5), spleen (RPKM 5.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30958921..30999911)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (31904625..31945638)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (29298057..29326929)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RNF135 promotes cell proliferation and autophagy in lung adenocarcinoma by promoting the phosphorylation of ULK1.
Title: RNF135 promotes cell proliferation and autophagy in lung adenocarcinoma by promoting the phosphorylation of ULK1.
The E3 ubiquitin ligase RNF135 modulates chemotherapy resistance to oxaliplatin for colorectal cancer by modulating autophagy.
Title: The E3 ubiquitin ligase RNF135 modulates chemotherapy resistance to oxaliplatin for colorectal cancer by modulating autophagy.
Plasma methylated GNB4 and Riplet as a novel dual-marker panel for the detection of hepatocellular carcinoma.
Title: Plasma methylated GNB4 and Riplet as a novel dual-marker panel for the detection of hepatocellular carcinoma.
A pan-cancer analysis of ring finger protein 135 and its relationship to triple-negative breast cancer proliferation and metastasis.
Title: A pan-cancer analysis of ring finger protein 135 and its relationship to triple-negative breast cancer proliferation and metastasis.
Riplet, and not TRIM25, is required endogenously for the ubiquitination of RIG-I.
Title: RIPLET, and not TRIM25, is required for endogenous RIG-I-dependent antiviral responses.
Ubiquitin-Dependent and -Independent Roles of E3 Ligase RIPLET in Innate Immunity.
Title: Ubiquitin-Dependent and -Independent Roles of E3 Ligase RIPLET in Innate Immunity.
Together with Riplet, Ube2D3 promotes covalent conjugation of polyubiquitin chains to RIG-I, while Ube2N preferentially facilitates production of unanchored chains. In the presence of these chains, RIG-I induces MAVS aggregation directly on the mitochondria. Data thus reveal two essential mechanisms underlying the activation of RIG-I and MAVS for triggering innate immune signaling in response to viral infection in cells.
Title: Ube2D3 and Ube2N are essential for RIG-I-mediated MAVS aggregation in antiviral innate immunity.
In-depth analysis of population-differentiated regions indicated that the coding gene, RNF135, represented a trans-regulation hotspot via cis-regulation by the population-specific variants in the region of selective sweep.
Title: Evidence of Recent Intricate Adaptation in Human Populations.
findings demonstrate the biological effects of RNF135 in glioblastoma cell proliferation, migration and cell cycle, and its role in the progression of glioblastoma may be associated with the ERK signal transduction pathway.
Title: RNF135, RING finger protein, promotes the proliferation of human glioblastoma cells in vivo and in vitro via the ERK pathway.
Data showed that the presence of the RNF135 K115 variant in the genotype of patients with autism was statistically significant.
Title: Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-09-22) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2021-09-22) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:494596

NoName (e-PCR)
- UniSTS:486881

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RIG-I binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribonucleoprotein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables ribonucleoprotein complex binding	IDA Inferred from Direct Assay more info	PubMed
enables ribonucleoprotein complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	EXP Inferred from Experiment more info	PubMed
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RIG-I signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in RIG-I signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in antiviral innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in free ubiquitin chain polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	TAS Traceable Author Statement more info
involved_in positive regulation of interferon-beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF135

Names: RIG-I E3 ubiquitin ligase; RING finger protein leading to RIG-I activation; RING-type E3 ubiquitin transferase RNF135

NP_001171921.1

EC 2.3.2.27

NP_115698.3

EC 2.3.2.27

NP_922921.1

EC 2.3.2.27

XP_024306768.1

EC 2.3.2.27

XP_024306769.1

EC 2.3.2.27

XP_047292885.1

EC 2.3.2.27

XP_054173521.1

EC 2.3.2.27

XP_054173522.1

EC 2.3.2.27

XP_054189193.1

EC 2.3.2.27

XP_054189194.1

EC 2.3.2.27

XP_054189195.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011701.2 RefSeqGene

Range

17120..45992

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001184992.2 → NP_001171921.1 E3 ubiquitin-protein ligase RNF135 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an additional exon in the CDS, which causes a translation frame-shift, as compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

BC082262, DA878616

Consensus CDS

CCDS54104.1

UniProtKB/Swiss-Prot

Q8IUD6

Related

ENSP00000440470.2, ENST00000535306.6

Conserved Domains (1) summary

cd00162
Location:21 → 64

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
NM_032322.4 → NP_115698.3 E3 ubiquitin-protein ligase RNF135 isoform 1

See identical proteins and their annotated locations for NP_115698.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC138207, AJ496729, BC005084

Consensus CDS

CCDS11262.1

UniProtKB/Swiss-Prot

A0AVM5, B2R7G9, B6ZLM5, F5GX60, Q8IUD6, Q9BSE9

Related

ENSP00000328340.5, ENST00000328381.10

Conserved Domains (3) summary

cd12902
Location:261 → 428

SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135

cd16543
Location:21 → 63

RING-HC_RNF135_like; RING finger, HC subclass, found in RING finger protein 135 (RNF135), tripartite motif-containing protein 15 (TRIM15) and similar proteins

cl28410
Location:19 → 254

RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
NM_197939.2 → NP_922921.1 E3 ubiquitin-protein ligase RNF135 isoform 2

See identical proteins and their annotated locations for NP_922921.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the CDS, which causes a translation frame-shift, as compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

AC138207, BC005084

Consensus CDS

CCDS11263.1

UniProtKB/Swiss-Prot

Q8IUD6

Related

ENSP00000323693.4, ENST00000324689.8

Conserved Domains (1) summary

cd00162
Location:21 → 64

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

30958921..30999911

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436929.1 → XP_047292885.1 E3 ubiquitin-protein ligase RNF135 isoform X1
XM_024451001.2 → XP_024306769.1 E3 ubiquitin-protein ligase RNF135 isoform X2

UniProtKB/TrEMBL

B3KV69

Conserved Domains (1) summary

cd12902
Location:80 → 247

SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135
XM_024451000.2 → XP_024306768.1 E3 ubiquitin-protein ligase RNF135 isoform X2

UniProtKB/TrEMBL

B3KV69

Conserved Domains (1) summary

cd12902
Location:80 → 247

SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135

Reference GRCh38.p14 PATCHES

Genomic

NW_025791803.1 Reference GRCh38.p14 PATCHES

Range

38095..79085

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333218.1 → XP_054189193.1 E3 ubiquitin-protein ligase RNF135 isoform X1
XM_054333219.1 → XP_054189194.1 E3 ubiquitin-protein ligase RNF135 isoform X3
XM_054333220.1 → XP_054189195.1 E3 ubiquitin-protein ligase RNF135 isoform X2

UniProtKB/TrEMBL

B3KV69

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

31904625..31945638

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317546.1 → XP_054173521.1 E3 ubiquitin-protein ligase RNF135 isoform X1
XM_054317547.1 → XP_054173522.1 E3 ubiquitin-protein ligase RNF135 isoform X2

UniProtKB/TrEMBL

B3KV69