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

Gene ID: 84282, updated on 19-Jul-2014
Official Symbol
RNF135provided by HGNC
Official Full Name
ring finger protein 135provided by HGNC
Primary source
HGNC:21158
Locus tag
L13
See related
Ensembl:ENSG00000181481; HPRD:11506; MIM:611358; Vega:OTTHUMG00000132867
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]
See RNF135 in Epigenomics, MapViewer
Location:
17q11.2
Exon count :
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (30958292..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 ATPase family, AAA domain containing 5 Neighboring gene transcription elongation factor, mitochondrial Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene divergent-paired related homeobox pseudogene 4 Neighboring gene uncharacterized LOC646021 Neighboring gene leucine-rich repeat-containing protein 37A2-like Neighboring gene neurofibromin 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Macrocephaly, macrosomia, facial dysmorphism syndrome
MedGen: C3280095 OMIM: 614192 GeneReviews: Not available
not available

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10, organism-specific biosystem (from REACTOME)
    NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10, organism-specific biosystemFas-AssociatedDeathDomain (FADD) and receptor interacting protein 1 (RIP1) are death domain containing molecules that interact with the C-terminal portion of IPS-1 and induce NF-kB through interactio...
  • Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystem (from REACTOME)
    Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystemAs with other cytokine systems, production of type I IFN is a transient process, and can be hazardous to the host if unregulated, resulting in chronic cellular toxicity or inflammatory and autoimmune...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • TRAF3-dependent IRF activation pathway, organism-specific biosystem (from REACTOME)
    TRAF3-dependent IRF activation pathway, organism-specific biosystemIPS-1/MAVS/Cardif/VISA with its TRAF-interaction motif (TIM) directly interacts with TRAF3 and recruits TRAF3 to the RIG-I/MDA5 signaling complex. TRAF3 acts as a scaffold for the assembly of a signa...
  • TRAF6 mediated IRF7 activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated IRF7 activation, organism-specific biosystemTRAF6 is crucial for both RIG-I- and MDA5-mediated antiviral responses. The absence of TRAF6 resulted in enhanced viral replication and a significant reduction in the production of type I IFNs and IL...
  • TRAF6 mediated NF-kB activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated NF-kB activation, organism-specific biosystemThe TRAF6/TAK1 signal activates a canonical IKK complex, resulting in the activation of NF-kB as well as MAPK cascades leading to the activation of AP-1. Although TRAF6/TAK1 has been implicated in To...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ligase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
E3 ubiquitin-protein ligase RNF135
Names
E3 ubiquitin-protein ligase RNF135
RIG-I E3 ubiquitin ligase

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 

    Range
    5001..33974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184992.1NP_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, OTTHUMP00000260811, ENST00000535306, OTTHUMT00000445071
    Conserved Domains (1) summary
    cd00162
    Location:2164
    Blast Score: 123
    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 ...
  2. NM_032322.3NP_115698.3  E3 ubiquitin-protein ligase RNF135 isoform 1

    See proteins identical to NP_115698.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI634044, AJ496729, BC005084
    Consensus CDS
    CCDS11262.1
    UniProtKB/Swiss-Prot
    Q8IUD6
    Conserved Domains (2) summary
    cd00162
    Location:2164
    Blast Score: 123
    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 ...
    cd12902
    Location:261428
    Blast Score: 813
    SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135
  3. NM_197939.1NP_922921.1  E3 ubiquitin-protein ligase RNF135 isoform 2

    See proteins identical to 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)
    AI634044, BC005084
    Consensus CDS
    CCDS11263.1
    UniProtKB/Swiss-Prot
    Q8IUD6
    Related
    ENSP00000323693, OTTHUMP00000163766, ENST00000324689, OTTHUMT00000256344
    Conserved Domains (1) summary
    cd00162
    Location:2164
    Blast Score: 115
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    30958292..30999911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722138.1XP_006722201.1  

    Conserved Domains (1) summary
    cd12902
    Location:154321
    Blast Score: 811
    SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135
  2. XM_005258043.2XP_005258100.1  

    See proteins identical to XP_005258100.1

    UniProtKB/TrEMBL
    B3KV69
    Conserved Domains (1) summary
    cd12902
    Location:80247
    Blast Score: 796
    SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    25508635..25537506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    29360522..29390158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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