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FLASH GENE

Symbol

TRIM54

contributors: mct/ - updated : 31-03-2007

HGNC name	tripartite motif-containing 54
HGNC id	16008

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	25.01 kb     10 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_032546 10 - 2073 NP_115935 - 400 - 2001 11243782 NM_187841 9 - 1947 NP_912730 - 358 - 2001 11243782

EXPRESSION

Type	restricted

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 Endocrine thyroid         Lymphoid/Immune tonsils

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a conserved N-terminal Ring finger motif
	a zinc-binding type-2 B-box motif
	a coiled coil dimerization motif box in the central region (RBCC)
	a COS (C-terminal subgroup one signature) domain
	a tripartite motif (TRIM)

conjugated

MetalloP

HOMOLOGY

interspecies

homolog to murine Rnf30

Homologene

FAMILY	C-II TRIM family
	MURF subfamily
	RBCC family

CATEGORY

regulatory , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus,chromatin/chromosome
text	colocalized with microtubules and Z-lines in skeletal muscles

basic FUNCTION	playing a potential role in skeletal myoblast differentiation and myotube fusion
	affecting microtubules stabiliting
	striated muscle-restricted components of the sarcomere that are thought to possess ubiquitin ligase activity
	playing an important role in maintaining cardiac integrity and function after acute myocardial infarction

CELLULAR PROCESS	cell cycle, division
	cell life, differentiation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein

interacting with FHL2 and gamma-filamin (controlling the degradation of FHL2 and FLNC)

cell & other

microtubules

REGULATION

Other	upregulated during striated muscle development
	regulated by IGF2BP2 (regulates the expression of LIMS2 and TRIM54 proteins via direct binding to their mRNAs)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         resulting in accumulation of FHL2 and FLNC, widening of the sarcomere, diminished contractility and susceptibility to ventricular rupture

Susceptibility

to cardiac rupture after myocardial infarction

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS