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FLASH GENE

Symbol

UBE4B

contributors: mct - updated : 23-04-2012

HGNC name	ubiquitination factor E4B (UFD2 homolog, yeast)
HGNC id	12500

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	148.28 kb     28 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

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_006048 27 - 5503 NP_006039 133 1173 - 2006 16870146 N-terminal MPAC domain, which is regulated both by cleavage during cell death, and by phosphorylation during mitosis at the C-terminus polyA polymerase (PAP) domain, which is similarly regulated by phosphorylation during mitosis and is delineated by an apoptotic protease cleavage site NM_001105562 28 - 5890 NP_001099032 146 1302 - 2006 16870146

EXPRESSION

Type

constitutive of

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 Cardiovascular heart       highly Digestive intestine large intestine colon   lowly Lymphoid/Immune thymus       lowly Nervous brain midbrain substantia nigra     Reproductive female system ovary     highly   male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	stem cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an U-box domain

mono polymer

heteromer

HOMOLOGY

interspecies	homolog to yeast Ufd2
	homolog to Drosophila Nosa
	homolog to murine Ube4b

Homologene

FAMILY

ubiquitin conjugation factor E4 family

CATEGORY

chaperone/stress , enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	involved in multi-ubiquitination chain assembly with E1, E2, E3
	might play an important role in the regulation of cisplatin mediated cell death mediated by TP63
	U box-containing protein that functions as an E3 ubiquitin ligase and an E4 polyubiquitin chain elongation factor
	promotes TP53 polyubiquitination and degradation and inhibits TP53-dependent transactivation and apoptosis
	negatively regulates the level of TP53 and inhibits TP53-dependent transactivation and apoptosis
	U-box-containing ubiquitylation enzyme that promotes ubiquitin chain assembly on substrates

CELLULAR PROCESS	cell cycle
	protein, post translation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with, and thereby mediated poly-ubiquitylation of ATXN3
	E3 and E4 ubiquitin ligase, that physically interacts with TP53 and MDM2
	E3 and E4 ubiquitin ligase with a U-box domain, interacting physically with both TP53 and MDM2
	TTK is a target of the UBE4B enzyme (UBE4B-mediated TTK degradation is conserved in humans and is important for mitotic progression)

cell & other

REGULATION

Other

proteolytically cleaved by caspases during apoptosis

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification --over   amplification and overexpression of UBE4B represent previously undescribed molecular mechanisms of inactivation of TP53 in brain tumors

Susceptibility

Variant & Polymorphism

Candidate gene	targeted expression of UBE4Bis a potential gene therapy for MJD
Marker
Therapy target

ANIMAL & CELL MODELS