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

Gene ID: 84282, updated on 16-Feb-2020

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
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

Genomic context

See RNF135 in Genome Data Viewer
Location:
17q11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (30968642..30999911)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29296224..29326929)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene RNA, 7SL, cytoplasmic 138, pseudogene Neighboring gene divergent-paired related homeobox pseudogene 4 Neighboring gene uncharacterized LOC107984974 Neighboring gene leucine rich repeat containing 37B pseudogene Neighboring gene NF1-REPb PRS3 recombination region Neighboring gene uncharacterized LOC105371722

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-02-27)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-02-27)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13061

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ribonucleoprotein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
innate immune response TAS
Traceable Author Statement
more info
 
negative regulation of type I interferon production TAS
Traceable Author Statement
more info
 
positive regulation of interferon-beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of innate immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase RNF135
Names
RIG-I E3 ubiquitin ligase
RING-type E3 ubiquitin transferase RNF135
NP_001171921.1
NP_115698.3
NP_922921.1
XP_016880712.1
XP_024306768.1
XP_024306769.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_011701.1 RefSeqGene

    Range
    5102..33974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184992.2NP_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:2164
    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 ...
  2. NM_032322.4NP_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
    Q8IUD6
    Related
    ENSP00000328340.5, ENST00000328381.10
    Conserved Domains (3) summary
    cd12902
    Location:261428
    SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135
    cd16543
    Location:2163
    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:19254
    RAD18; RING-finger-containing E3 ubiquitin ligase [Signal transduction mechanisms]
  3. NM_197939.2NP_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:2164
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    30968642..30999911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025223.1XP_016880712.1  E3 ubiquitin-protein ligase RNF135 isoform X1

    UniProtKB/TrEMBL
    B3KV69
    Conserved Domains (1) summary
    cd12902
    Location:80247
    SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135
  2. XM_024451001.1XP_024306769.1  E3 ubiquitin-protein ligase RNF135 isoform X1

    Conserved Domains (1) summary
    cd12902
    Location:80247
    SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135
  3. XM_024451000.1XP_024306768.1  E3 ubiquitin-protein ligase RNF135 isoform X1

    Conserved Domains (1) summary
    cd12902
    Location:80247
    SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135

RNA

  1. XR_002958077.1 RNA Sequence

  2. XR_002958076.1 RNA Sequence

  3. XR_002958078.1 RNA Sequence

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