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

    Gene ID: 84282, updated on 2-Nov-2024

    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
    NEW
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    Genomic context

    See RNF135 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30958921..30999911)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31904625..31945638)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29298057..29326929)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATPase family AAA domain containing 5 Neighboring gene RNA, U6 small nuclear 298, pseudogene Neighboring gene MPRA-validated peak2795 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29233994-29234794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29239185-29239684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8404 Neighboring gene transcription elongation factor, mitochondrial Neighboring gene MPRA-validated peak2796 silencer Neighboring gene ArfGAP with dual PH domains 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29284865-29285364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12005 Neighboring gene RNA, 7SL, cytoplasmic 138, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29298033-29298594 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29297471-29298032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12007 Neighboring gene divergent-paired related homeobox pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29335291-29335792 Neighboring gene SMAD specific E3 ubiquitin protein ligase 2 (SMURF2) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8407 Neighboring gene NF1-REPb PRS3 recombination region Neighboring gene leucine rich repeat containing 37B pseudogene Neighboring gene uncharacterized LOC124903974 Neighboring gene MIR4733 host gene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 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

    Interactions

    General gene information

    Clone Names

    • MGC13061

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RIG-I binding PubMed 
    enables identical protein binding PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    enables ribonucleoprotein complex binding  
    enables ribonucleoprotein complex binding PubMed 
    enables ribonucleoprotein complex binding PubMed 
    enables ubiquitin protein ligase activity PubMed 
    enables ubiquitin-protein transferase activity PubMed 
    enables ubiquitin-protein transferase activity  
    enables ubiquitin-protein transferase activity PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytoplasmic stress granule PubMed 
    located_in cytosol  
    part_of ribonucleoprotein complex PubMed 

    General protein information

    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
    NP_115698.3
    NP_922921.1
    XP_024306768.1
    XP_024306769.1
    XP_047292885.1
    XP_054173521.1
    XP_054173522.1
    XP_054189193.1
    XP_054189194.1
    XP_054189195.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011701.2 RefSeqGene

      Range
      17120..45992
      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
      A0AVM5, B2R7G9, B6ZLM5, F5GX60, Q8IUD6, Q9BSE9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      30958921..30999911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436929.1XP_047292885.1  E3 ubiquitin-protein ligase RNF135 isoform X1

    2. XM_024451001.2XP_024306769.1  E3 ubiquitin-protein ligase RNF135 isoform X2

      UniProtKB/TrEMBL
      B3KV69
      Conserved Domains (1) summary
      cd12902
      Location:80247
      SPRY_PRY_RNF135; PRY/SPRY domain in RING finger protein RNF135
    3. XM_024451000.2XP_024306768.1  E3 ubiquitin-protein ligase RNF135 isoform X2

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791803.1 Reference GRCh38.p14 PATCHES

      Range
      38095..79085
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333218.1XP_054189193.1  E3 ubiquitin-protein ligase RNF135 isoform X1

    2. XM_054333219.1XP_054189194.1  E3 ubiquitin-protein ligase RNF135 isoform X3

    3. XM_054333220.1XP_054189195.1  E3 ubiquitin-protein ligase RNF135 isoform X2

      UniProtKB/TrEMBL
      B3KV69

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      31904625..31945638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317546.1XP_054173521.1  E3 ubiquitin-protein ligase RNF135 isoform X1

    2. XM_054317547.1XP_054173522.1  E3 ubiquitin-protein ligase RNF135 isoform X2

      UniProtKB/TrEMBL
      B3KV69
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