Rnf220 ring finger protein 220 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rnf220provided by MGI
Official Full Name: ring finger protein 220provided by MGI
Primary source: MGI:MGI:1913993
See related: Ensembl:ENSMUSG00000028677 AllianceGenome:MGI:1913993
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: 4732477A13; 4931406I20Rik; 5730503K05Rik
Summary: Enables ubiquitin protein ligase activity. Involved in protein autoubiquitination and regulation of postsynaptic neurotransmitter receptor internalization. Acts upstream of or within nervous system development; positive regulation of DNA-binding transcription factor activity; and protein monoubiquitination. Located in cytoplasm. Is active in glutamatergic synapse and postsynapse. Is expressed in several structures, including central nervous system; dorsal root ganglion; genitourinary system; retina; and tooth. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 23. Orthologous to human RNF220 (ring finger protein 220). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 15.8), ovary adult (RPKM 14.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 53.44 cM; 4 D1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (117128660..117354249, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (117271463..117497052, complement)

Chromosome 4 - NC_000070.7 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?

RNF220-mediated K63-linked polyubiquitination stabilizes Olig proteins during oligodendroglial development and myelination.
Title: RNF220-mediated K63-linked polyubiquitination stabilizes Olig proteins during oligodendroglial development and myelination.
RNF220 promotes gastric cancer growth and stemness via modulating the USP22/wnt/beta-catenin pathway.
Title: RNF220 promotes gastric cancer growth and stemness via modulating the USP22/wnt/β-catenin pathway.
Haploinsufficiency of the TDP43 ubiquitin E3 ligase RNF220 leads to ALS-like motor neuron defects in the mouse.
Title: Haploinsufficiency of the TDP43 ubiquitin E3 ligase RNF220 leads to ALS-like motor neuron defects in the mouse.
RNF220 mediates K63-linked polyubiquitination of STAT1 and promotes host defense.
Title: RNF220 mediates K63-linked polyubiquitination of STAT1 and promotes host defense.
RNF220-mediated ubiquitination promotes aggresomal accumulation and autophagic degradation of cytoplasmic Gli via HDAC6.
Title: RNF220-mediated ubiquitination promotes aggresomal accumulation and autophagic degradation of cytoplasmic Gli via HDAC6.
ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling.
Title: ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling.
Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
Title: Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
RNF220 is required for cerebellum development and regulates medulloblastoma progression through epigenetic modulation of Shh signaling.
Title: RNF220 is required for cerebellum development and regulates medulloblastoma progression through epigenetic modulation of Shh signaling.
Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
Title: Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
RNF220 plays crucial roles in the patterning of the ventral progenitor domains, by targeting multiple transcription factors, including Dbx1/2 and Nkx2.2, for degradation in close cooperation with ZC4H2.
Title: Rnf220 cooperates with Zc4h2 to specify spinal progenitor domains.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4Mit122 (e-PCR), detects polymorphism
- UniSTS:129896

D4Jpk1 (e-PCR), detects polymorphism
- UniSTS:142456

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables beta-catenin binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within dorsal/ventral neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within noradrenergic neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein monoubiquitination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein monoubiquitination	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of transcription regulatory region DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nuclear lamina	ISO Inferred from Sequence Orthology more info
located_in nuclear lamina	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase Rnf220

Names: RING-type E3 ubiquitin transferase Rnf220

NP_001297658.1

EC 2.3.2.27

NP_001297659.1

EC 2.3.2.27

NP_001297660.1

EC 2.3.2.27

NP_080015.3

EC 2.3.2.27

XP_006503348.1

EC 2.3.2.27

XP_011238889.1

EC 2.3.2.27

XP_011238890.1

EC 2.3.2.27

XP_011238891.1

EC 2.3.2.27

XP_017175845.1

EC 2.3.2.27

XP_017175846.1

EC 2.3.2.27

XP_030109563.1

EC 2.3.2.27

XP_030109564.1

EC 2.3.2.27

XP_036020239.1

EC 2.3.2.27

XP_036020240.1

EC 2.3.2.27

XP_036020241.1

EC 2.3.2.27

XP_036020242.1

EC 2.3.2.27

XP_036020243.1

EC 2.3.2.27

XP_036020244.1

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_001310729.1 → NP_001297658.1 E3 ubiquitin-protein ligase Rnf220 isoform 2

See identical proteins and their annotated locations for NP_001297658.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in its 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) has a significantly shorter N-terminus, but contains an alternate internal protein segment compared to isoform 1.

Source sequence(s)

AI837557, BC056359, BY716092, CA463153

Consensus CDS

CCDS80150.1

UniProtKB/TrEMBL

Q9D4L6

Related

ENSMUSP00000092449.3, ENSMUST00000094853.9

Conserved Domains (2) summary

pfam15926
Location:1 → 229

RNF220; E3 ubiquitin-protein ligase RNF220

cd16563
Location:300 → 340

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins
NM_001310730.1 → NP_001297659.1 E3 ubiquitin-protein ligase Rnf220 isoform 3

See identical proteins and their annotated locations for NP_001297659.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct and significantly shorter N-terminus, but contains an alternate internal protein segment compared to isoform 1.

Source sequence(s)

AI837557, AK016436, AL844169, BC056359, CJ105892

Consensus CDS

CCDS89815.1

UniProtKB/Swiss-Prot

Q6PDX6

UniProtKB/TrEMBL

Q9D4L6

Related

ENSMUSP00000152367.2, ENSMUST00000221654.2

Conserved Domains (2) summary

pfam13923
Location:256 → 294

zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

pfam15926
Location:14 → 184

RNF220; E3 ubiquitin-protein ligase RNF220
NM_001310731.1 → NP_001297660.1 E3 ubiquitin-protein ligase Rnf220 isoform 4

See identical proteins and their annotated locations for NP_001297660.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in its 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a significantly shorter N-terminus compared to isoform 1.

Source sequence(s)

AI837557, AK016436, AL844169, BC056359, BE953159, CJ105892

Consensus CDS

CCDS80149.1

UniProtKB/Swiss-Prot

Q6PDX6

UniProtKB/TrEMBL

Q9D4L6

Conserved Domains (2) summary

cd16563
Location:192 → 232

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:11 → 121

RNF220; E3 ubiquitin-protein ligase RNF220
NM_025739.3 → NP_080015.3 E3 ubiquitin-protein ligase Rnf220 isoform 1

See identical proteins and their annotated locations for NP_080015.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AI837557, AK041785, BC056359

Consensus CDS

CCDS18534.1

UniProtKB/Swiss-Prot

A2APP0, Q3T9M4, Q3V3D7, Q6PDX6, Q8JZY5

Related

ENSMUSP00000030439.9, ENSMUST00000030439.15

Conserved Domains (2) summary

cd16563
Location:513 → 553

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 442

RNF220; E3 ubiquitin-protein ligase RNF220

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_000070.7 Reference GRCm39 C57BL/6J

Range

117128660..117354249 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503285.3 → XP_006503348.1 E3 ubiquitin-protein ligase Rnf220 isoform X1

See identical proteins and their annotated locations for XP_006503348.1

Conserved Domains (2) summary

cd16563
Location:539 → 579

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 468

RNF220; E3 ubiquitin-protein ligase RNF220
XM_036164349.1 → XP_036020242.1 E3 ubiquitin-protein ligase Rnf220 isoform X2

UniProtKB/Swiss-Prot

A2APP0, Q3T9M4, Q3V3D7, Q6PDX6, Q8JZY5

Conserved Domains (2) summary

cd16563
Location:513 → 553

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 442

RNF220; E3 ubiquitin-protein ligase RNF220
XM_036164348.1 → XP_036020241.1 E3 ubiquitin-protein ligase Rnf220 isoform X2

UniProtKB/Swiss-Prot

A2APP0, Q3T9M4, Q3V3D7, Q6PDX6, Q8JZY5

Conserved Domains (2) summary

cd16563
Location:513 → 553

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 442

RNF220; E3 ubiquitin-protein ligase RNF220
XM_036164350.1 → XP_036020243.1 E3 ubiquitin-protein ligase Rnf220 isoform X2

UniProtKB/Swiss-Prot

A2APP0, Q3T9M4, Q3V3D7, Q6PDX6, Q8JZY5

Conserved Domains (2) summary

cd16563
Location:513 → 553

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 442

RNF220; E3 ubiquitin-protein ligase RNF220
XM_011240588.3 → XP_011238890.1 E3 ubiquitin-protein ligase Rnf220 isoform X1

See identical proteins and their annotated locations for XP_011238890.1

Conserved Domains (2) summary

cd16563
Location:539 → 579

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 468

RNF220; E3 ubiquitin-protein ligase RNF220
XM_036164347.1 → XP_036020240.1 E3 ubiquitin-protein ligase Rnf220 isoform X2

UniProtKB/Swiss-Prot

A2APP0, Q3T9M4, Q3V3D7, Q6PDX6, Q8JZY5

Conserved Domains (2) summary

cd16563
Location:513 → 553

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 442

RNF220; E3 ubiquitin-protein ligase RNF220
XM_036164346.1 → XP_036020239.1 E3 ubiquitin-protein ligase Rnf220 isoform X2

UniProtKB/Swiss-Prot

A2APP0, Q3T9M4, Q3V3D7, Q6PDX6, Q8JZY5

Conserved Domains (2) summary

cd16563
Location:513 → 553

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 442

RNF220; E3 ubiquitin-protein ligase RNF220
XM_011240587.4 → XP_011238889.1 E3 ubiquitin-protein ligase Rnf220 isoform X1

See identical proteins and their annotated locations for XP_011238889.1

Conserved Domains (2) summary

cd16563
Location:539 → 579

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:219 → 468

RNF220; E3 ubiquitin-protein ligase RNF220
XM_036164351.1 → XP_036020244.1 E3 ubiquitin-protein ligase Rnf220 isoform X3

Conserved Domains (2) summary

cd16563
Location:274 → 314

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:1 → 203

RNF220; E3 ubiquitin-protein ligase RNF220
XM_011240589.4 → XP_011238891.1 E3 ubiquitin-protein ligase Rnf220 isoform X5

See identical proteins and their annotated locations for XP_011238891.1

UniProtKB/Swiss-Prot

Q6PDX6

Conserved Domains (2) summary

cd16563
Location:192 → 232

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:11 → 121

RNF220; E3 ubiquitin-protein ligase RNF220
XM_017320356.3 → XP_017175845.1 E3 ubiquitin-protein ligase Rnf220 isoform X4

Conserved Domains (2) summary

cd16563
Location:229 → 269

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:14 → 158

RNF220; E3 ubiquitin-protein ligase RNF220
XM_030253704.2 → XP_030109564.1 E3 ubiquitin-protein ligase Rnf220 isoform X5

Related

ENSMUSP00000099751.3, ENSMUST00000102690.9

Conserved Domains (2) summary

cd16563
Location:192 → 232

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:11 → 121

RNF220; E3 ubiquitin-protein ligase RNF220
XM_030253703.2 → XP_030109563.1 E3 ubiquitin-protein ligase Rnf220 isoform X5

Conserved Domains (2) summary

cd16563
Location:192 → 232

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:11 → 121

RNF220; E3 ubiquitin-protein ligase RNF220
XM_017320357.3 → XP_017175846.1 E3 ubiquitin-protein ligase Rnf220 isoform X5

UniProtKB/Swiss-Prot

Q6PDX6

Conserved Domains (2) summary

cd16563
Location:192 → 232

RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins

pfam15926
Location:11 → 121

RNF220; E3 ubiquitin-protein ligase RNF220