Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RNF220 contributors: mct - updated : 13-01-2022
HGNC name ring finger protein 220
HGNC id 25552
Corresponding disease
HLD23 hypomyelinating leukodystrophy-23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
Location 1p34.1      Physical location : 44.870.959 - 45.117.396
Synonym name chromosome 1 open reading frame 164
Synonym symbol(s) C1orf164, FLJ10597, RP4-678E16.1, HLD23
EC.number 2.3.2.27
DNA
TYPE functioning gene
STRUCTURE 246.56 kb     15 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3025 62.6 566 - 2020 32094113
15 - 3149 - 566 - 2020 32094113
15 - 3120 - 592 - 2020 32094113
15 - 3116 - 592 - 2020 32094113
15 - 3056 - 566 - 2020 32094113
14 - 2241 - 353 - 2020 32094113
11 - 2062 - 308 - 2020 32094113
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainbasal nuclei    Homo sapiens
Reproductivemale system     Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
Reproductivegerm cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one RING-type zinc finger
  • HOMOLOGY
    interspecies homolog to murine Rnf220 (97.9pc)
    Homologene
    FAMILY
  • RING finger protein family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • ubiquitin ligase for SIN3B, promoting its ubiquitination and proteasomal degradation (Kong 2010)
  • can bind E2 and mediate auto-ubiquitination (Kong 2010)
  • potentially novel role of RNF220 in Wnt-related tumorigenesis
  • RNF220 and its cofactor ZC4H2 participate in ventral neural tube patterning by modulating Shh/Gli signaling
  • ubiquitin E3 ligase RNF220 and its co-factor ZC4H2 are required for multiple neural developmental processes through different targets, including spinal cord patterning and the development of the cerebellum and the locus coeruleus
  • having roles and mechanisms of action in signal transduction, vertebrate neural development, and related human disorders
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • ions Zn2+
  • protein
  • interacting specifically with SIN3B (Kong 2010)
  • RNF220 physically interacts with CTNNB1, but instead of promoting its ubiquitination and proteasomal degradation, it stabilizes CTNNB1 and promotes canonical Wnt signaling
  • RNF220 interacts with USP7, a ubiquitin-specific peptidase, which is required for RNF220 to stabilize CTNNB1
  • RNF220 cooperates with ZC4H2 to specify spinal progenitor domains (
  • RNF220 is an E3 ligase promoting the ubiquitination and proteasomal degradation of SIN3B, a chromatin-associated protein, which plays a vital role in chromatin condensation
  • ZC4H2 is required for the stability of RNF220 and also proper Gli ubiquitination and signaling
  • ZC4H2 and RNF220 are likely involved in the regulation of neural stem cell proliferation and differentiation through CEND1
  • RNF220-mediated ubiquitination promotes aggresomal accumulation and autophagic degradation of cytoplasmic GLI via HDAC6
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HLD23
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    leads to male infertility with small-headed sperm
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rnf220-null mice show widespread alterations of ventral progenitor domains, including the loss of the p2 domain that produces V2 interneurons