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FLASH GENE

Symbol

RNF40

contributors: mct - updated : 18-10-2012

HGNC name	ring finger protein 40
HGNC id	16867

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16p11.2      Physical location : 30.773.629 - 30.786.536
Synonym name	staring protein
	95KDa retinoblastoma protein binding protein
	cDNA sequence,expressed in brain,>100kDa,related to C elegans 97,1 kDa protein
Synonym symbol(s)	RBP95, KIAA0661, BRE1B, STARING, BRE1B, DKFZp686K191, MGC13051,
EC.number	6.3.2.-

DNA

TYPE	functioning gene
STRUCTURE	14.70 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014771 20 splicing 6022 113 1001 - 2002 12121982 NM_001207033 20 splicing 6019 94 838 - 2002 12121982 NM_001207034 18 - 5722 - 901 - 2002 12121982

EXPRESSION

Type	ubiquitous

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 Digestive mouth tongue     moderately Hearing/Equilibrium ear       moderately Lymphoid/Immune thymus       moderately Nervous brain       moderately Reproductive female system uterus     moderately   male system testis     highly Respiratory respiratory tract trachea     highly

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

physiological period

fetal

Text	umbilical cord

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	ring finger domain
	zinc finger domain conserved pRb-binding motif LXCXE
	basic leucine zipper (bZIP) domain

conjugated

MetalloP

mono polymer

homomer , dimer

HOMOLOGY

interspecies	ortholog to rattus Rnf40 (92.6pc)
	ortholog to murine Rnf40 (92.4pc)

Homologene

FAMILY	Rb associated protein family
	ring finger protein family
	BRE1 family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles

basic FUNCTION	acting as an E3 ubiquitin ligase protein
	mediating monoubiquitination of Lys-120 of histone H2B
	playing a central role in histone code and gene regulation
	required for transcriptional activation of Hox genes

CELLULAR PROCESS	nucleotide, transcription, regulation
	protein, ubiquitin dependent proteolysis

PHYSIOLOGICAL PROCESS

text	transcription regulation and/or transcription processing

PATHWAY

metabolism

signaling

third step of ubiquitin conjugation

a component	forming a ubiquitin ligase complex in cooperation with the E2 enzyme UBE2E1/UBCH6
	component of the RNF20/40 complex at least composed of 2 copies of RNF20/BRE1A, 2 copies of RNF40/BRE1B and UBE2E1/UBCH6

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	RB1
	targeting UBE2L6 and STX1A for degradation by the ubiquitin proteasome pathway
	UBE2E1, RNF20/40, and the PAF1 complex are recruited to transcriptionally active genes
	WAC interacts with RNF20/40 through its C-terminal coiled-coil region and promotes RNF20/40 s E3 ligase activity for HIST1H2BB ubiquitination
	RNF20 and RNF40 bind to discrete, but closely located, residues on CDC73

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function deficiency in histone H2B ubiquitin ligase RNF20/RNF40) leads to replication stress and chromosomal instability

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	deficiency in murine Rnf20/Rnf40 function associated with increased sensitivity to crosslinking drugs and defective formation of Rad51 foci in mouse cells, suggesting a defect in homologous recombinational repair analogous to that seen in Saccharomyces