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

Gene ID: 154214, updated on 1-Jun-2020

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

Genomic context

See RNF217 in Genome Data Viewer
Location:
6q22.31
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (124962406..125092634)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (125283680..125413779)

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

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_001286398.2NP_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)
    AA782081, AK093417, AK122811, AL136128, AL355296
    Consensus CDS
    CCDS69191.1
    UniProtKB/Swiss-Prot
    Q8TC41
    UniProtKB/TrEMBL
    B3KVC8
    Related
    ENSP00000428698.2, ENST00000521654.6
    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.

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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