RNF220
entrez
55182
canonical
uniprot
Q5VTB9
canonical
ensembl
ENSG00000187147
resolver
ensp
ENSP00000335580
resolver
ensp
ENSP00000347548
resolver
ensp
ENSP00000354872
resolver
ensp
ENSP00000388533
resolver
genesymbol
RNF220
resolver
genesymbol_syn
C1orf164
resolver
hgnc
HGNC:25552
resolver
uniprot
B3KPJ3
resolver
uniprot
B4DLZ9
resolver
uniprot
E9PCS1
resolver
uniprot
Q4KMX2
resolver
uniprot
Q9NVP6
resolver
uniprot_entry
RN220_HUMAN
resolver
uniprot_sec
B3KPJ3
resolver
uniprot_sec
B4DLZ9
resolver
uniprot_sec
E9PCS1
resolver
uniprot_sec
Q4KMX2
resolver
uniprot_sec
Q9NVP6
resolver
amino_acid_sequence
MDLHRAAFKMENSSYLPNPLASPALMVLASTAEASRDASIPCQQPRPFGVPVSVDKDVHIPFTNGSYTFASMYHRQGGVPGTFANRDFPPSLLHLHPQFAPPNLDCTPISMLNHSGVGAFRPFASTEDRESYQSAFTPAKRLKNCHDTESPHLRFSDADGKEYDFGTQLPSSSPGSLKVDDTGKKIFAVSGLISDREASSSPEDRNDRCKKKAAALFDSQAPICPICQVLLRPSELQEHMEQELEQLAQLPSSKNSLLKDAMAPGTPKSLLLSASIKREGESPTASPHSSATDDLHHSDRYQTFLRVRANRQTRLNARIGKMKRRKQDEGQREGSCMAEDDAVDIEHENNNRFEEYEWCGQKRIRATTLLEGGFRGSGFIMCSGKENPDSDADLDVDGDDTLEYGKPQYTEADVIPCTGEEPGEAKEREALRGAVLNGGPPSTRITPEFSKWASDEMPSTSNGESSKQEAMQKTCKNSDIEKITEDSAVTTFEALKARVRELERQLSRGDRYKCLICMDSYSMPLTSIQCWHVHCEECWLRTLGAKKLCPQCNTITAPGDLRRIYL
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy (HLD23) [MIM:619688]: An autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss, hepatic dysfunction, and dilated cardiomyopathy. Death occurs in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities, and thin corpus callosum. {ECO:0000269|PubMed:33964137}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of multiple substrates including GRIA1, GRIA2, PHOX2A and PHOX2B, STAT1, STAT3 and SIN3B. Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling (PubMed:25266658, PubMed:33964137). Plays a critical role in the regulation of nuclear lamina (PubMed:33964137). Modulates synaptic activity and brain functions by promoting degradation of AMPA receptor subunits GRIA1 and GRIA2. The RNF220/ZC4H2 complex monoubiquitinates PHOX2A and PHOX2B to enhance their DNA-binding ability and transactivity (By similarity). Promotes 'Lys-63'-linked polyubiquitination of Gli transcriptional activators and repressors, facilitating their nuclear export by CRM1 to fine-tune the sonic hedgehog/Gli signaling (By similarity). Regulates type I and type II interferon responses upon viral or bacterial infection by mediating 'Lys-63'-linked polyubiquitination of STAT1 (PubMed:32814877). Also regulates STAT3 phosphorylation, nuclear translocation, and transcriptional activity via ubiquitination (PubMed:41219491). Promotes OLIG1 and OLIG2 'Lys-63'-linked polyubiquitination and stabilization, two master regulatory transcription factors involved in oligodendroglial development (PubMed:38324685). {ECO:0000250|UniProtKB:Q6PDX6, ECO:0000269|PubMed:25266658, ECO:0000269|PubMed:32814877, ECO:0000269|PubMed:33964137, ECO:0000269|PubMed:37537194, ECO:0000269|PubMed:38324685, ECO:0000269|PubMed:41219491}.
uniprot
proteins
mass_dalton
62765
uniprot
proteins
mutagenesis
MUTAGEN 321; /note="K->R: Complete loss of SMURF1 or SMURF2-mediated ubiquitination; when associated with R-323 and R-326."; /evidence="ECO:0000269|PubMed:37537194"; MUTAGEN 323; /note="K->R: Complete loss of SMURF1 or SMURF2-mediated ubiquitination; when associated with R-321 and R-326."; /evidence="ECO:0000269|PubMed:37537194"; MUTAGEN 326; /note="K->R: Complete loss of SMURF1 or SMURF2-mediated ubiquitination; when associated with R-321 and R-323."; /evidence="ECO:0000269|PubMed:37537194
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Auto-ubiquitinated; leads to proteasomal degradation. ubiquitinated via 'Lys-48'-linked polyubiquitination by SMURF1 and SMURF2 (PubMed:37537194). {ECO:0000269|PubMed:37537194}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25266658
uniprot
proteins
pubmed
32814877
uniprot
proteins
pubmed
33964137
uniprot
proteins
pubmed
37537194
uniprot
proteins
pubmed
38324685
uniprot
proteins
pubmed
41219491
uniprot
proteins
sequence_length
566
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:33964137, ECO:0000269|PubMed:41219491}. Nucleus {ECO:0000269|PubMed:33964137}.
uniprot
proteins