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FLASH GENE

Symbol

UBE2H

contributors: mct - updated : 20-03-2017

HGNC name	ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
HGNC id	12484

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q32.2      Physical location : 129.472.994 - 129.592.789
Synonym symbol(s)	E2-20K, GID3, UBC8, UBCH, UBCH2
EC.number	2.3.2.23 /2.3.2.24

DNA

TYPE	functioning gene
STRUCTURE	122.23 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	promoter region contains a functional NF-kappaB binding site

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_182697 5 - 5081 NP_874356 - 152 - 2000 10860668 NM_003344 7 - 5174 NP_003335 - 183 - 2000 10860668 NM_001202498 7 - 4778 NP_001189427 - 113 - 2000 10860668

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conserved UBC domain of 150AA harboring the cysteine residue required for enzyme-ubiquitin thioester formation

HOMOLOGY

interspecies

homolog to yeast UBC8

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	ubiquitin conjugating enzyme H2A
	E2 enzyme of the ubiquitin-dependent proteolytic system
	is an ubiquitin conjugating enzyme known to act on histones and cytoskeletal proteins, both involved in the degenerative pathway of the motor neuron
	E2 enzyme UBE2H and the E3 enzyme TRIM72 were up-regulated during myogenesis
	UBE2H and TRIM72 complexes are required for PTK2 ubiquitination and degradation

CELLULAR PROCESS	cell cycle
	protein, degradation

PHYSIOLOGICAL PROCESS

development

text

brain

PATHWAY

metabolism

signaling

a component

PTK2 formed a complex with its E2 enzyme, UBE2H, and E3 enzyme, TRIM72

INTERACTION

DNA

RNA

small molecule

protein	activating PARK2
	UBE2H is an E2 partner of TRIM72 for IRS1 ubiquitination
	TAL1 expression activated UBE2H expression, whereas TAL1 knock-down reduced UBE2H expression and ubiquitin transfer activity
	TRIM72 is an ubiquitin E3 ligase that induces IRS1 ubiquitination with the help of an E2-conjugating enzyme, UBE2H
	TRIM72 induces PTK2 ubiquitination with the aid of UBE2H during skeletal myogenesis

cell & other

REGULATION

activated by

PARK2

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to autism with developmental quotient higher than 30

Variant & Polymorphism SNP	significant association was found between the G allele and a subgroup of autistic patients with developmental quotient higher than 30

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS