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FLASH GENE

Symbol

RNF220

contributors: mct - updated : 13-01-2022

HGNC name	ring finger protein 220
HGNC id	25552

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018150 15 - 3025 NP_060620 62.6 566 - 2020 32094113 NM_001319956 15 - 3149 NP_001306885 - 566 - 2020 32094113 NM_001376486 15 - 3120 NP_001363415 - 592 - 2020 32094113 NM_001376487 15 - 3116 NP_001363416 - 592 - 2020 32094113 NM_001376488 15 - 3056 NP_001363417 - 566 - 2020 32094113 NM_001319957 14 - 2241 NP_001306886 - 353 - 2020 32094113 NM_001376489 11 - 2062 NP_001363418 - 308 - 2020 32094113

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain basal nuclei       Homo sapiens Reproductive male system         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Reproductive germ 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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