U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

RNF220 ring finger protein 220 [ Homo sapiens (human) ]

Gene ID: 55182, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
RNF220provided by HGNC
Official Full Name
ring finger protein 220provided by HGNC
Primary source
HGNC:HGNC:25552
See related
Ensembl:ENSG00000187147 MIM:616136; AllianceGenome:HGNC:25552
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLD23; C1orf164
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]
Expression
Ubiquitous expression in brain (RPKM 10.7), testis (RPKM 7.1) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
1p34.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44404783..44651724)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44276080..44522650)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44870832..45117396)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ERI1 exoribonuclease family member 3 Neighboring gene small nucleolar RNA, H/ACA box 110 Neighboring gene Sharpr-MPRA regulatory region 3045 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8150 Neighboring gene NANOG hESC enhancer GRCh37_chr1:44805333-44805834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44820763-44821263 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:44834096-44834628 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8167 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44839934-44840144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44871820-44872342 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:44874109-44874785 Neighboring gene RNA, U6 small nuclear 369, pseudogene Neighboring gene MPRA-validated peak196 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr1:44902025-44902526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44949184-44950063 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44950064-44950942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44961950-44962450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44972171-44972671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44972832-44973468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44973469-44974104 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44987221-44987386 Neighboring gene VISTA enhancer hs280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44988460-44989317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45007461-45008268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45011382-45011908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 810 Neighboring gene microRNA 5584 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:45060915-45061086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45075197-45075758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45075759-45076318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 939 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:45097341-45097888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 941 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45098438-45098985 Neighboring gene uncharacterized LOC107984950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45115956-45116537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45139597-45140098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 814 Neighboring gene uncharacterized LOC105378690 Neighboring gene transmembrane protein 53 Neighboring gene small nucleolar RNA, C/D box 145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 815 Neighboring gene armadillo like helical domain containing 1 Neighboring gene RNA, U5F small nuclear 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. A homozygous RNF220 mutation leads to male infertility with small-headed sperm. Jiang X, et al. Gene, 2019 Mar 10. PMID 30500349
  2. CircRNF220, not its linear cognate gene RNF220, regulates cell growth and is associated with relapse in pediatric acute myeloid leukemia. Liu X, et al. Mol Cancer, 2021 Oct 26. PMID 34702297, Free PMC Article
  3. Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression. Li Y, et al. J Mol Cell Biol, 2022 Apr 5. PMID 35040952, Free PMC Article
  4. Ring finger 220 promotes the stemness and progression of colon cancer cells via Ubiquitin specific peptidase 22-BMI1 axis. Yan J, et al. Bioengineered, 2021 Dec. PMID 34753387, Free PMC Article
  5. RNF220 promotes the proliferation of leukaemic cells and reduces the degradation of the Cyclin D1 protein through USP22. Pan Y, et al. Blood Cells Mol Dis, 2021 Feb. PMID 32896826

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma.
    Title: Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma.
  2. Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression.
    Title: Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression.
  3. CircRNF220, not its linear cognate gene RNF220, regulates cell growth and is associated with relapse in pediatric acute myeloid leukemia.
    Title: CircRNF220, not its linear cognate gene RNF220, regulates cell growth and is associated with relapse in pediatric acute myeloid leukemia.
  4. Ring finger 220 promotes the stemness and progression of colon cancer cells via Ubiquitin specific peptidase 22-BMI1 axis.
    Title: Ring finger 220 promotes the stemness and progression of colon cancer cells via Ubiquitin specific peptidase 22-BMI1 axis.
  5. Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
    Title: Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
  6. RNF220 promotes the proliferation of leukaemic cells and reduces the degradation of the Cyclin D1 protein through USP22.
    Title: RNF220 promotes the proliferation of leukaemic cells and reduces the degradation of the Cyclin D1 protein through USP22.
  7. This variant could promote the RNF220 protein degradation.
    Title: A homozygous RNF220 mutation leads to male infertility with small-headed sperm.
  8. RNF220 interacts with USP7, a ubiquitin-specific peptidase, which is required for RNF220 to stabilize beta-catenin.
    Title: The ubiquitin ligase RNF220 enhances canonical Wnt signaling through USP7-mediated deubiquitination of β-catenin.
  9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ10597

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
  
involved_in noradrenergic neuron development IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein autoubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within protein monoubiquitination IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within regulation of transcription regulatory region DNA binding IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nuclear lamina IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
E3 ubiquitin-protein ligase RNF220
Names
RING-type E3 ubiquitin transferase RNF220
NP_001306885.1
NP_001306886.1
NP_001363415.1
NP_001363416.1
NP_001363417.1
NP_001363418.1
NP_060620.2
XP_006710798.1
XP_011540000.1
XP_011540001.1
XP_011540002.1
XP_016857114.1
XP_047280225.1
XP_047280233.1
XP_047280236.1
XP_047280237.1
XP_047280238.1
XP_054193384.1
XP_054193385.1
XP_054193386.1
XP_054193387.1
XP_054193388.1
XP_054193389.1
XP_054193390.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. NM_001319956.1 → NP_001306885.1  E3 ubiquitin-protein ligase RNF220 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC034221, BC098266, CN285725
    Consensus CDS
    CCDS510.1
    UniProtKB/Swiss-Prot
    B3KPJ3, B4DLZ9, E9PCS1, Q4KMX2, Q5VTB9, Q9NVP6
    Related
    ENSP00000347548.2, ENST00000355387.6
    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

  2. NM_001319957.2 → NP_001306886.1  E3 ubiquitin-protein ligase RNF220 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, differs in the 5' UTR, lacks a portion of the coding region, uses a downstrean in-frame start codon and uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AK025744, AK297228, BC034221, DC340836
    UniProtKB/Swiss-Prot
    Q5VTB9
    Conserved Domains (2) summary
    cd16563
    Location:300 → 340
    RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins
    pfam15926
    Location:1 → 229
    RNF220; E3 ubiquitin-protein ligase RNF220

  3. NM_001376486.1 → NP_001363415.1  E3 ubiquitin-protein ligase RNF220 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL122004, AL359373, AL596225
    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

  4. NM_001376487.1 → NP_001363416.1  E3 ubiquitin-protein ligase RNF220 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL122004, AL359373, AL596225
    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

  5. NM_001376488.1 → NP_001363417.1  E3 ubiquitin-protein ligase RNF220 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL122004, AL359373, AL596225
    Consensus CDS
    CCDS510.1
    UniProtKB/Swiss-Prot
    B3KPJ3, B4DLZ9, E9PCS1, Q4KMX2, Q5VTB9, Q9NVP6
    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

  6. NM_001376489.1 → NP_001363418.1  E3 ubiquitin-protein ligase RNF220 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL122004, AL596225
    UniProtKB/TrEMBL
    B4DJE2
    Related
    ENSP00000335580.7, ENST00000335497.11
    Conserved Domains (2) summary
    cd16563
    Location:255 → 295
    RING-HC_RNF220; RING finger, HC subclass, found in RING finger protein 220 (RNF220) and similar proteins
    pfam15926
    Location:18 → 184
    RNF220; E3 ubiquitin-protein ligase RNF220

  7. NM_018150.4 → NP_060620.2  E3 ubiquitin-protein ligase RNF220 isoform 1

    See identical proteins and their annotated locations for NP_060620.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK025744, BC034221, CN285725
    Consensus CDS
    CCDS510.1
    UniProtKB/Swiss-Prot
    B3KPJ3, B4DLZ9, E9PCS1, Q4KMX2, Q5VTB9, Q9NVP6
    Related
    ENSP00000354872.2, ENST00000361799.7
    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_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    44404783..44651724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424277.1 → XP_047280233.1  E3 ubiquitin-protein ligase RNF220 isoform X1

  2. XM_047424269.1 → XP_047280225.1  E3 ubiquitin-protein ligase RNF220 isoform X1

  3. XM_006710735.5 → XP_006710798.1  E3 ubiquitin-protein ligase RNF220 isoform X4

    Conserved Domains (1) summary
    pfam15926
    Location:217 → 316
    RNF220; E3 ubiquitin-protein ligase RNF220

  4. XM_011541699.2 → XP_011540001.1  E3 ubiquitin-protein ligase RNF220 isoform X1

    See identical proteins and their annotated locations for XP_011540001.1

    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

  5. XM_047424280.1 → XP_047280236.1  E3 ubiquitin-protein ligase RNF220 isoform X1

  6. XM_017001625.3 → XP_016857114.1  E3 ubiquitin-protein ligase RNF220 isoform X2

    UniProtKB/Swiss-Prot
    B3KPJ3, B4DLZ9, E9PCS1, Q4KMX2, Q5VTB9, Q9NVP6
    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

  7. XM_011541698.3 → XP_011540000.1  E3 ubiquitin-protein ligase RNF220 isoform X1

    See identical proteins and their annotated locations for XP_011540000.1

    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

  8. XM_011541700.2 → XP_011540002.1  E3 ubiquitin-protein ligase RNF220 isoform X1

    See identical proteins and their annotated locations for XP_011540002.1

    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

  9. XM_047424281.1 → XP_047280237.1  E3 ubiquitin-protein ligase RNF220 isoform X3

  10. XM_047424282.1 → XP_047280238.1  E3 ubiquitin-protein ligase RNF220 isoform X5

    Related
    ENSP00000388533.2, ENST00000440132.2

RNA

  1. XR_007061417.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    44276080..44522650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337414.1 → XP_054193389.1  E3 ubiquitin-protein ligase RNF220 isoform X4

  2. XM_054337409.1 → XP_054193384.1  E3 ubiquitin-protein ligase RNF220 isoform X1

  3. XM_054337412.1 → XP_054193387.1  E3 ubiquitin-protein ligase RNF220 isoform X2

    UniProtKB/Swiss-Prot
    B3KPJ3, B4DLZ9, E9PCS1, Q4KMX2, Q5VTB9, Q9NVP6

  4. XM_054337410.1 → XP_054193385.1  E3 ubiquitin-protein ligase RNF220 isoform X1

  5. XM_054337411.1 → XP_054193386.1  E3 ubiquitin-protein ligase RNF220 isoform X1

  6. XM_054337413.1 → XP_054193388.1  E3 ubiquitin-protein ligase RNF220 isoform X3

  7. XM_054337415.1 → XP_054193390.1  E3 ubiquitin-protein ligase RNF220 isoform X5

RNA

  1. XR_008486089.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016501.2: Suppressed sequence

    Description
    NM_016501.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VTB9.1 GenPept UniProtKB/Swiss-Prot:Q5VTB9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous