Rnf213 ring finger protein 213 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rnf213provided by MGI
Official Full Name: ring finger protein 213provided by MGI
Primary source: MGI:MGI:1289196
See related: Ensembl:ENSMUSG00000070327 AllianceGenome:MGI:1289196
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mysterin; 6030403J01; D11Ertd759e
Summary: Predicted to enable ATP hydrolysis activity and ubiquitin protein ligase activity. Involved in angiogenesis; defense response to bacterium; and lipid ubiquitination. Predicted to be located in cytoplasm and lipid droplet. Predicted to be active in cytosol and nucleolus. Is expressed in genitourinary system; gut; heart; and pericardial component. Human ortholog(s) of this gene implicated in Moyamoya disease. Orthologous to human RNF213 (ring finger protein 213). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in ovary adult (RPKM 12.0), thymus adult (RPKM 11.4) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E2; 11 83.48 cM

Exon count:: 70

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (119280778..119378245)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (119389950..119487418)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Knockout of Rnf213 Ameliorates Cerebral Ischemic-reperfusion Injury by Inhibiting Neuronal Apoptosis Through the Akt/GSK-3beta/beta-catenin/Bcl-2 Pathway.
Title: Knockout of Rnf213 Ameliorates Cerebral Ischemic-reperfusion Injury by Inhibiting Neuronal Apoptosis Through the Akt/GSK-3β/β-catenin/Bcl-2 Pathway.
RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.
Title: RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.
Rnf-213 Knockout Induces Pericyte Reduction and Blood-Brain Barrier Impairment in Mouse.
Title: Rnf-213 Knockout Induces Pericyte Reduction and Blood-Brain Barrier Impairment in Mouse.
Suppression of RNF213, a susceptibility gene for moyamoya disease, inhibits endoplasmic reticulum stress through SEL1L upregulation.
Title: Suppression of RNF213, a susceptibility gene for moyamoya disease, inhibits endoplasmic reticulum stress through SEL1L upregulation.
Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism.
Title: Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism.
results are indicative of the essential role of RNF213 in the maintenance of cerebral blood flow .
Title: Dysregulation of RNF213 promotes cerebral hypoperfusion.
Study shows that S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy.
Title: S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy.
PTP1B/RNF213/alpha-KGDD pathway is critical for survival of HER2(+) breast cancer, and possibly other malignancies, in the hypoxic tumour microenvironment
Title: PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia.
The mechanisms underlying the development of moyamoya disease currently remain unclear, the RNF213 abnormality may compromise immunological self-tolerance, thereby contributing to the development of moyamoya disease.
Title: Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease.
The Rnf213 gene was up-regulated in the ischemic brain, especially at the penumbra area, as early as 6 h after transient middle cerebral artery occlusion
Title: Transient middle cerebral artery occlusion in mice induces neuronal expression of RNF213, a susceptibility gene for moyamoya disease.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH128310 (e-PCR)
- UniSTS:211618

D11Ertd759e (e-PCR), detects polymorphism
- UniSTS:167080

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to bacterium	ISO Inferred from Sequence Orthology more info
involved_in immune system process	IEA Inferred from Electronic Annotation more info
involved_in lipid droplet formation	ISO Inferred from Sequence Orthology more info
involved_in lipid droplet formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of non-canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of non-canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of non-canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein K63-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein K63-linked ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein autoubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of lipid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of lipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in sprouting angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in sprouting angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
involved_in ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in xenophagy	ISO Inferred from Sequence Orthology more info
involved_in xenophagy	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF213

Names: E3 ubiquitin-lipopolysaccharide ligase RNF213; RING-type E3 ubiquitin transferase RNF213

NP_001035094.2

EC 2.3.2.27

XP_006534693.1

EC 2.3.2.27

XP_006534694.1

EC 2.3.2.27

XP_006534695.1

EC 2.3.2.27

XP_006534696.1

EC 2.3.2.27

XP_030102102.1

EC 2.3.2.27

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)

NM_001040005.3 → NP_001035094.2 E3 ubiquitin-protein ligase RNF213

Status: VALIDATED

Source sequence(s)

AL645911

UniProtKB/Swiss-Prot

E9Q555, F7A6H4, Q8BVK6

UniProtKB/TrEMBL

A0A8I4P9C4

Related

ENSMUSP00000091429.6, ENSMUST00000093902.12

Conserved Domains (5) summary

smart00382
Location:2374 → 2501

AAA; ATPases associated with a variety of cellular activities

COG5574
Location:3878 → 3985

PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]

cd00162
Location:3947 → 3985

RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]

pfam12773
Location:3 → 26

DZR; Double zinc ribbon

cl17238
Location:3947 → 3986

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

119280778..119378245

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006534633.5 → XP_006534696.1 E3 ubiquitin-protein ligase RNF213 isoform X4

See identical proteins and their annotated locations for XP_006534696.1

UniProtKB/TrEMBL

A0A8I4P9C4

Conserved Domains (5) summary

smart00382
Location:2417 → 2544

AAA; ATPases associated with a variety of cellular activities

COG5574
Location:3922 → 4029

PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]

cd00162
Location:3991 → 4029

RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]

pfam12773
Location:3 → 26

DZR; Double zinc ribbon

cl17238
Location:3991 → 4030

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_006534630.5 → XP_006534693.1 E3 ubiquitin-protein ligase RNF213 isoform X1

See identical proteins and their annotated locations for XP_006534693.1

UniProtKB/TrEMBL

A0A8I4P9C4

Conserved Domains (5) summary

smart00382
Location:2417 → 2544

AAA; ATPases associated with a variety of cellular activities

COG5574
Location:3922 → 4029

PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]

cd00162
Location:3991 → 4029

RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]

pfam12773
Location:3 → 26

DZR; Double zinc ribbon

cl17238
Location:3991 → 4030

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_006534631.5 → XP_006534694.1 E3 ubiquitin-protein ligase RNF213 isoform X2

See identical proteins and their annotated locations for XP_006534694.1

UniProtKB/TrEMBL

A0A8I4P9C4

Conserved Domains (5) summary

smart00382
Location:2417 → 2544

AAA; ATPases associated with a variety of cellular activities

COG5574
Location:3921 → 4028

PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]

cd00162
Location:3990 → 4028

RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]

pfam12773
Location:3 → 26

DZR; Double zinc ribbon

cl17238
Location:3990 → 4029

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_006534632.5 → XP_006534695.1 E3 ubiquitin-protein ligase RNF213 isoform X3

See identical proteins and their annotated locations for XP_006534695.1

UniProtKB/TrEMBL

A0A8I4P9C4

Conserved Domains (5) summary

smart00382
Location:2374 → 2501

AAA; ATPases associated with a variety of cellular activities

COG5574
Location:3879 → 3986

PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]

cd00162
Location:3948 → 3986

RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]

pfam12773
Location:3 → 26

DZR; Double zinc ribbon

cl17238
Location:3948 → 3987

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
XM_030246242.2 → XP_030102102.1 E3 ubiquitin-protein ligase RNF213 isoform X1

UniProtKB/TrEMBL

A0A8I4P9C4

Conserved Domains (5) summary

smart00382
Location:2417 → 2544

AAA; ATPases associated with a variety of cellular activities

COG5574
Location:3922 → 4029

PEX10; RING-finger-containing E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]

cd00162
Location:3991 → 4029

RING_Ubox; RING-HC finger (C3HC4-type) [structural motif]

pfam12773
Location:3 → 26

DZR; Double zinc ribbon

cl17238
Location:3991 → 4030

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain