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

Gene ID: 154214, updated on 3-Apr-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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Location:
6q22.31
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (124962437..125092634)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (126150465..126280671)
105.20220307 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
  • 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 (16) 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)

Genotypes

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 polyubiquitination IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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