RNF220 - ring finger protein 220 Gene

Homo sapiens

Also known as HLD23; C1orf164

Gene ID: 55182 | Gene type: protein coding

About RNF220

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:44,404,783-44,651,724 (from NCBI)

This gene has 18 transcripts (splice variants), 358 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 10.7), testis (RPKM 7.1) and 25 other tissues.

Summary

Predicted to enable ubiquitin protein Ligase activity. Involved in positive regulation of canonical Wnt signaling pathway. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

RNF220 Products(7)

mRNA	Protein	Name
NM_001319956.1	NP_001306885.1	E3 ubiquitin-protein ligase RNF220 isoform 1
NM_001319957.2	NP_001306886.1	E3 ubiquitin-protein ligase RNF220 isoform 2
NM_001376486.1	NP_001363415.1	E3 ubiquitin-protein ligase RNF220 isoform 3
NM_001376487.1	NP_001363416.1	E3 ubiquitin-protein ligase RNF220 isoform 3
NM_001376488.1	NP_001363417.1	E3 ubiquitin-protein ligase RNF220 isoform 1
NM_001376489.1	NP_001363418.1	E3 ubiquitin-protein ligase RNF220 isoform 4
NM_018150.4	NP_060620.2	E3 ubiquitin-protein ligase RNF220 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-catenin binding	IMP IMP: Inferred from mutant phenotype	33964137	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19549727	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within positive regulation of DNA-binding transcription factor activity	IGI IGI: Inferred from genetic interaction	32094113	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	25266658	GOA
acts upstream of or within protein monoubiquitination	IGI IGI: Inferred from genetic interaction	32094113	GOA
acts upstream of or within regulation of transcription regulatory region DNA binding	IGI IGI: Inferred from genetic interaction	32094113	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nuclear lamina	IMP IMP: Inferred from mutant phenotype	33964137	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	33964137	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	30177510	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RNF220 Protein Structure

zf-C3HC4_2

0
100
200
300
400
500
566 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase RNF220

RING-type E3 ubiquitin transferase RNF220

Related Diseases

Diseases

Alias

Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy

HLD23

Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type	Mcs
Mental Retardation, X-Linked, Syndromic 4	Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches
Mrxs4	Miles-Carpenter X-Linked Mental Retardation Syndrome

Leukodystrophy

Leukodystrophies

Venezuelan Hemorrhagic Fever

Guanarito Hemorrhagic Fever

Vehf - [Venezuelan Haemorrhagic Fever]

Cerebellum Cancer

Cerebellar Neoplasms	Cerebellar Cancer
Malignant Tumor Of Cerebellum	Malignant Neoplasm Of Cerebellum

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12082	RNF220 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RNF220	VGNC	VGNC:34055
Felis catus	RNF220	VGNC	VGNC:64697
Rattus norvegicus	RNF220	RGD	RGD:1598210
Macaca mulatta	RNF220	VGNC	VGNC:100062
Canis familiaris	RNF220	VGNC	VGNC:108233
Mus musculus	RNF220	MGD	MGI:1913993

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