RNF217
E3 ubiquitin-protein ligase RNF217
Also known as: C6orf172, dJ84N20.1, IBRDC1, MGC26996, RN217_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TC41
- Gene
- RNF217
- Ensembl
- ENSG00000146373
- Chromosome
- 6
- Canonical length
- 542 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
542 residues, UniProt reviewed canonical sequence.
>Q8TC41|RNF217
1 MGEEQSTVSG GGGPQESQTL ASGTAGHPEP PRPQGDSARA PPLRAASAEP SGGGCGSDWG
61 CADTSAPEPA RSLGPPGWSK SRAPAQPAGL ALTGPLNPQT LPLQLELEEE EEEAGDRKEG
121 GDEQQEAPPG EELEPRTRVG AADGLVLDVL GQRRPSLAKR QVFCSVYCVE SDLPEAPASE
181 QLSPPASPPG APPVLNPPST RSSFPSPRLS LPTDSLSPDG GSIELEFYLA PEPFSMPSLL
241 GAPPYSGLGG VGDPYVPLMV LMCRVCLEDK PIKPLPCCKK AVCEECLKVY LSAQVQLGQV
301 EIKCPITECF EFLEETTVVY NLTHEDSIKY KYFLELGRID SSTKPCPQCK HFTTFKKKGH
361 IPTPSRSESK YKIQCPTCQF VWCFKCHSPW HEGVNCKEYK KGDKLLRHWA SEIEHGQRNA
421 QKCPKCKIHI QRTEGCDHMT CSQCNTNFCY RCGERYRQLR FFGDHTSNLS IFGCKYRYLP
481 ERPHLRRLVR GSVCAGKLFI APLIMVLGLA LGAIAVVIGL FVFPIYCLCK KQRKRSRTGM
541 HWLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RNF217 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 39 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 39 nTPM
- bone marrow: 10 nTPM
- blood vessel: 8.5 nTPM
- skin: 7.8 nTPM
- adipose tissue: 7.3 nTPM
- ovary: 7.3 nTPM
Single-cell type
- pituicytes/fscs: 227 nCPM
- bergmann glia: 217 nCPM
- choroid plexus epithelial cells: 215 nCPM
- pituitary stem cells: 199 nCPM
- neutrophil progenitors: 196 nCPM
- sertoli cells: 172 nCPM
Immune cell
- classical monocyte: 0.2 nTPM
- myeloid DC: 0.2 nTPM
- basophil: 0.1 nTPM
- intermediate monocyte: 0.1 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- choroid plexus: 20 nTPM
- white matter: 20 nTPM
- amygdala: 17 nTPM
- medulla oblongata: 17 nTPM
- cerebellum: 16 nTPM
- hippocampal formation: 16 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.31
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- ubiquitin conjugating enzyme binding
- ubiquitin protein ligase activity
- ubiquitin-protein transferase activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- IBR domain
- Zinc finger, RING/FYVE/PHD-type
- E3 ubiquitin ligase RBR family
- TRIAD supradomain
- IBR domain, a half RING-finger domain
- IBR domain
- E3 ubiquitin-protein ligase RNF217, variant RING finger, HC subclass
- E3 ubiquitin-protein ligase RNF217, BRcat domain
- E3 ubiquitin-protein ligase RNF217, Rcat domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RNF217 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RNF217 as an antibody target. Whether an autoantibody or antibody against RNF217 could matter depends on whether native RNF217 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RNF217 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RNF217 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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