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

    Gene ID: 154214, updated on 14-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:21487
    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
    mouse all
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    Genomic context

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    See RNF217 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (124962437..125092634)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (126150465..126280671)
    RS_2024_09 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 MPRA-validated peak6091 silencer Neighboring gene MPRA-validated peak6092 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124237778-124238627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124287082-124287615 Neighboring gene sodium/potassium transporting ATPase interacting 2 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124350663-124351164 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124410214-124410715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:124669617-124670116 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:125004573-125005172 Neighboring gene MPRA-validated peak6095 silencer Neighboring gene MPRA-validated peak6096 silencer Neighboring gene MPRA-validated peak6097 silencer Neighboring gene MPRA-validated peak6098 silencer Neighboring gene MPRA-validated peak6100 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125276459-125277048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125277049-125277637 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene MPRA-validated peak6102 silencer Neighboring gene MPRA-validated peak6103 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:125426552-125426785 Neighboring gene uncharacterized LOC124901394 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:125444775-125445974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:125475715-125476302 Neighboring gene uncharacterized LOC100126584 Neighboring gene TPD52 like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The Role of the Transmembrane RING Finger Proteins in Cellular and Organelle Function. Nakamura N. Membranes (Basel), 2011 Dec 9. PMID 24957874, Free PMC Article
    2. Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane Domain. Ho SR, et al. J Biol Chem, 2015 Sep 18. PMID 26216882, Free PMC Article
    3. Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL. Fontanari Krause LM, et al. Sci Rep, 2014 Oct 9. PMID 25298122, Free PMC Article
    4. RNF217 regulates iron homeostasis through its E3 ubiquitin ligase activity by modulating ferroportin degradation. Jiang L, et al. Blood, 2021 Aug 26. PMID 33895792, Free PMC Article
    5. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. Gorbea C, et al. J Biol Chem, 2010 Oct 8. PMID 20682791, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The high expression of RNF217 in certain human leukemias suggests that the deregulation of this gene could be a more common mechanism in leukemogenesis.
      Title: Identification and characterization of OSTL (RNF217) encoding a RING-IBR-RING protein adjacent to a translocation breakpoint involving ETV6 in childhood ALL.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
    Submit: New GeneRIF Correction

    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

    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

    Homology

    Clone Names

    • FLJ13522, MGC26996

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin conjugating enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase RNF217
    Names
    IBR domain containing 1
    opposite STL
    probable E3 ubiquitin-protein ligase RNF217
    NP_001273327.1
    NP_689766.1
    XP_011533796.1
    XP_011533797.1
    XP_011533798.1
    XP_011533801.1
    XP_011533802.1
    XP_047274197.1
    XP_047274198.1
    XP_047274199.1
    XP_047274200.1
    XP_047274201.1
    XP_047274202.1
    XP_047274203.1
    XP_047274204.1
    XP_047274205.1
    XP_047274206.1
    XP_054210339.1
    XP_054210340.1
    XP_054210341.1
    XP_054210342.1
    XP_054210343.1
    XP_054210344.1
    XP_054210345.1
    XP_054210346.1
    XP_054210347.1
    XP_054210348.1
    XP_054210349.1
    XP_054210350.1
    XP_054210351.1
    XP_054210352.1
    XP_054210353.1

    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.

    mRNA and Protein(s)

    1. NM_001286398.3 → NP_001273327.1  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
      H7C5V4, Q5TCA4, Q8TC41, Q9BX48
      Related
      ENSP00000428698.2, ENST00000521654.7
      Conserved Domains (3) summary
      smart00647
      Location:329 → 396
      IBR; In Between Ring fingers
      COG3677
      Location:338 → 382
      InsA; Transposase [Mobilome: prophages, transposons]
      pfam01485
      Location:424 → 456
      IBR; IBR domain, a half RING-finger domain

    2. NM_152553.5 → NP_689766.1  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/TrEMBL
      H0YKH8
      Related
      ENSP00000352734.2, ENST00000359704.2
      Conserved Domains (2) summary
      smart00647
      Location:37 → 104
      IBR; In Between Ring fingers
      pfam01485
      Location:132 → 164
      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: 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      124962437..125092634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535494.3 → XP_011533796.1  E3 ubiquitin-protein ligase RNF217 isoform X1

      Conserved Domains (3) summary
      smart00647
      Location:329 → 396
      IBR; In Between Ring fingers
      COG3677
      Location:338 → 382
      InsA; Transposase [Mobilome: prophages, transposons]
      pfam01485
      Location:418 → 456
      IBR; IBR domain, a half RING-finger domain

    2. XM_011535496.3 → XP_011533798.1  E3 ubiquitin-protein ligase RNF217 isoform X3

      Conserved Domains (2) summary
      smart00647
      Location:274 → 318
      IBR; In Between Ring fingers
      pfam01485
      Location:340 → 378
      IBR; IBR domain, a half RING-finger domain

    3. XM_047418241.1 → XP_047274197.1  E3 ubiquitin-protein ligase RNF217 isoform X4

    4. XM_047418242.1 → XP_047274198.1  E3 ubiquitin-protein ligase RNF217 isoform X5

    5. XM_047418245.1 → XP_047274201.1  E3 ubiquitin-protein ligase RNF217 isoform X7

    6. XM_047418247.1 → XP_047274203.1  E3 ubiquitin-protein ligase RNF217 isoform X9

    7. XM_047418246.1 → XP_047274202.1  E3 ubiquitin-protein ligase RNF217 isoform X8

    8. XM_047418244.1 → XP_047274200.1  E3 ubiquitin-protein ligase RNF217 isoform X6

    9. XM_047418243.1 → XP_047274199.1  E3 ubiquitin-protein ligase RNF217 isoform X6

    10. XM_047418248.1 → XP_047274204.1  E3 ubiquitin-protein ligase RNF217 isoform X11

    11. XM_011535499.4 → XP_011533801.1  E3 ubiquitin-protein ligase RNF217 isoform X10

      Conserved Domains (1) summary
      cl17238
      Location:263 → 301
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    12. XM_011535495.4 → XP_011533797.1  E3 ubiquitin-protein ligase RNF217 isoform X2

      Conserved Domains (1) summary
      PHA03247
      Location:14 → 243
      PHA03247; large tegument protein UL36; Provisional

    13. XM_011535500.2 → XP_011533802.1  E3 ubiquitin-protein ligase RNF217 isoform X12

      UniProtKB/TrEMBL
      H0YKH8
      Conserved Domains (2) summary
      smart00647
      Location:43 → 110
      IBR; In Between Ring fingers
      pfam01485
      Location:138 → 170
      IBR; IBR domain, a half RING-finger domain

    14. XM_047418249.1 → XP_047274205.1  E3 ubiquitin-protein ligase RNF217 isoform X13

    15. XM_047418250.1 → XP_047274206.1  E3 ubiquitin-protein ligase RNF217 isoform X14

      Related
      ENSP00000452812.2, ENST00000560949.5

    RNA

    1. XR_001743178.2 RNA Sequence

    2. XR_007059212.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      126150465..126280671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354364.1 → XP_054210339.1  E3 ubiquitin-protein ligase RNF217 isoform X1

    2. XM_054354366.1 → XP_054210341.1  E3 ubiquitin-protein ligase RNF217 isoform X3

    3. XM_054354367.1 → XP_054210342.1  E3 ubiquitin-protein ligase RNF217 isoform X4

    4. XM_054354368.1 → XP_054210343.1  E3 ubiquitin-protein ligase RNF217 isoform X5

    5. XM_054354371.1 → XP_054210346.1  E3 ubiquitin-protein ligase RNF217 isoform X7

    6. XM_054354373.1 → XP_054210348.1  E3 ubiquitin-protein ligase RNF217 isoform X9

    7. XM_054354372.1 → XP_054210347.1  E3 ubiquitin-protein ligase RNF217 isoform X8

    8. XM_054354370.1 → XP_054210345.1  E3 ubiquitin-protein ligase RNF217 isoform X6

    9. XM_054354369.1 → XP_054210344.1  E3 ubiquitin-protein ligase RNF217 isoform X6

    10. XM_054354375.1 → XP_054210350.1  E3 ubiquitin-protein ligase RNF217 isoform X11

    11. XM_054354374.1 → XP_054210349.1  E3 ubiquitin-protein ligase RNF217 isoform X10

    12. XM_054354365.1 → XP_054210340.1  E3 ubiquitin-protein ligase RNF217 isoform X2

    13. XM_054354376.1 → XP_054210351.1  E3 ubiquitin-protein ligase RNF217 isoform X12

    14. XM_054354377.1 → XP_054210352.1  E3 ubiquitin-protein ligase RNF217 isoform X13

    15. XM_054354378.1 → XP_054210353.1  E3 ubiquitin-protein ligase RNF217 isoform X14

    RNA

    1. XR_008487265.1 RNA Sequence

    2. XR_008487266.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC41.4 GenPept UniProtKB/Swiss-Prot:Q8TC41

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