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    RNF217 ring finger protein 217 [ Homo sapiens (human) ]

    Gene ID: 154214, updated on 8-Jul-2021

    Summary

    Official Symbol
    RNF217provided by HGNC
    Official Full Name
    ring finger protein 217provided by HGNC
    Primary source
    HGNC:HGNC:21487
    See related
    Ensembl:ENSG00000146373 MIM:618592
    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
    OSTL; IBRDC1; C6orf172; dJ84N20.1
    Summary
    This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in fat (RPKM 3.1), skin (RPKM 2.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RNF217 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (124962406..125092634)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (125283583..125413780)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene triadin Neighboring gene uncharacterized LOC105377981 Neighboring gene sodium/potassium transporting ATPase interacting 2 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC100126584 Neighboring gene TPD52 like 1 Neighboring gene HD domain containing 2

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ13522, MGC26996

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin conjugating enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    probable E3 ubiquitin-protein ligase RNF217
    Names
    IBR domain containing 1
    opposite STL
    NP_001273327.1
    NP_689766.1
    XP_011533796.1
    XP_011533797.1
    XP_011533798.1
    XP_011533801.1
    XP_011533802.1
    XP_016865806.1

    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.

    mRNA and Protein(s)

    1. NM_001286398.3NP_001273327.1  probable E3 ubiquitin-protein ligase RNF217 isoform a

      See identical proteins and their annotated locations for NP_001273327.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL136128, AL355296
      Consensus CDS
      CCDS69191.1
      UniProtKB/Swiss-Prot
      Q8TC41
      UniProtKB/TrEMBL
      B3KVC8
      Related
      ENSP00000428698.2, ENST00000521654.7
      Conserved Domains (3) summary
      smart00647
      Location:329396
      IBR; In Between Ring fingers
      COG3677
      Location:338382
      InsA; Transposase [Mobilome: prophages, transposons]
      pfam01485
      Location:424456
      IBR; IBR domain, a half RING-finger domain
    2. NM_152553.5NP_689766.1  probable E3 ubiquitin-protein ligase RNF217 isoform b

      See identical proteins and their annotated locations for NP_689766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, and it includes an additional exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has distinct N- and C-termini and is shorter than isoform a.
      Source sequence(s)
      AA782081, AK093417, AL136128, BC026087
      Consensus CDS
      CCDS5129.1
      UniProtKB/Swiss-Prot
      Q8TC41
      Related
      ENSP00000352734.2, ENST00000359704.2
      Conserved Domains (2) summary
      smart00647
      Location:37104
      IBR; In Between Ring fingers
      pfam01485
      Location:132164
      IBR; IBR domain, a half RING-finger domain

    RNA

    1. NR_104440.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks the 5' exon but includes two alternate 5' exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AA782081, AK093417, AL136128, BC026087
    2. NR_136734.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA782081, AK093417, AK122811, AL136128, AL355296, DA400256, DB238637
      Related
      ENST00000519565.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      124962406..125092634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535495.3XP_011533797.1  probable E3 ubiquitin-protein ligase RNF217 isoform X2

      Conserved Domains (1) summary
      PHA03247
      Location:14243
      PHA03247; large tegument protein UL36; Provisional
    2. XM_011535499.3XP_011533801.1  probable E3 ubiquitin-protein ligase RNF217 isoform X4

      Conserved Domains (1) summary
      cl17238
      Location:263301
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
    3. XM_017010317.1XP_016865806.1  probable E3 ubiquitin-protein ligase RNF217 isoform X5

      Conserved Domains (1) summary
      cl17238
      Location:263294
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
    4. XM_011535496.2XP_011533798.1  probable E3 ubiquitin-protein ligase RNF217 isoform X3

      Conserved Domains (2) summary
      smart00647
      Location:274318
      IBR; In Between Ring fingers
      pfam01485
      Location:340378
      IBR; IBR domain, a half RING-finger domain
    5. XM_011535494.2XP_011533796.1  probable E3 ubiquitin-protein ligase RNF217 isoform X1

      Conserved Domains (3) summary
      smart00647
      Location:329396
      IBR; In Between Ring fingers
      COG3677
      Location:338382
      InsA; Transposase [Mobilome: prophages, transposons]
      pfam01485
      Location:418456
      IBR; IBR domain, a half RING-finger domain
    6. XM_011535500.2XP_011533802.1  probable E3 ubiquitin-protein ligase RNF217 isoform X6

      Related
      ENSP00000452812.2, ENST00000560949.5
      Conserved Domains (2) summary
      smart00647
      Location:43110
      IBR; In Between Ring fingers
      pfam01485
      Location:138170
      IBR; IBR domain, a half RING-finger domain

    RNA

    1. XR_942309.3 RNA Sequence

    2. XR_001743179.1 RNA Sequence

    3. XR_001743181.1 RNA Sequence

    4. XR_001743183.1 RNA Sequence

    5. XR_001743182.1 RNA Sequence

    6. XR_001743180.2 RNA Sequence

    7. XR_942305.3 RNA Sequence

    8. XR_001743178.1 RNA Sequence

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