RNF220 - ring finger protein 220 Gene

Also Known as HLD23; C1orf164

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55182

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 References 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 References 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 References 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

zf-C3HC4_2: Zinc finger, C3HC4 type (RING finger) (514 - 552)

  • 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

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 Set / 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
Others RNF220 NCBI