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FLASH GENE

Symbol

UNC45B

contributors: mct - updated : 10-12-2020

HGNC name	unc-45 homolog B (C. elegans)
HGNC id	14304

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADCC7 congenital cataract, zonular central nuclear 7 MUNC45BD myopathy with UNC45B deficiency
Location	17q12      Physical location : 33.474.835 - 33.516.363
Synonym name	cardiomyopathy associated 4
	striated muscle UNC45
Synonym symbol(s)	UNC45, CMYA4, SMUNC45, FLJ38610, MGC119540, MGC119541, UNC-45B, CTRCT43,

DNA

TYPE	functioning gene
STRUCTURE	41.55 kb     21 Exon(s)

text structure

promoter with a Heat shock factor 1 (HSF1) binding element as a mediator of UNC45B up-regulation in myofibers lacking myosin folding proteins

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001033576 20 splicing 5688 NP_001028748 103.5 929 - 2014 24549050 NM_173167 19 splicing 5597 NP_775259 103.6 931 - 2014 24549050 NM_001267052 20 - 5685 NP_001253981 - 929 - 2014 24549050 NM_001308281 17 - 5354 NP_001295210 - 850 - 2014 24549050

EXPRESSION

Type

widely

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       predominantly Homo sapiens Digestive stomach       moderately Respiratory respiratory tract larynx     highly Visual eye       moderately Homo sapiens Fetal

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	eye, myoblast fusion

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal tetratricopeptide repeat domain that binds to Hsp90
	a central domain composed of armadillo repeats, interacting with myosin and inhibiting the actin translocation function of myosin
	C-terminal UCS domain, which is also comprised of helical armadillo repeats, interacts with myosin , and is responsible for the chaperone-like properties of the UNC45B

HOMOLOGY

interspecies	homolog to rattus Unc45b (94.6 pc)
	homolog to murine Unc45b (94.9 pc)

Homologene

FAMILY

UCS family of myosin chaperones

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	Shuttling of the chaperones UNC45B and HSPAA1 between the A band and the Z line of the myofibril (Etard 2008)
	in adulthood, UNC45B is stored at the Z-disk

basic FUNCTION	may play a role in sarcomere formation and organisation during muscle cell development
	playing a role in myoblast fusion
	may act as co-chaperone for HSP90
	may be necessary for proper folding of myosin
	is a cytosolic protein that forms a stable complex with HSP90AA1, selectively binds the unfolded conformation of the myosin motor domain, and promotes motor domain folding
	myosin-specific chaperone that, together with the general heat shock protein HSP90AA1, is involved in myosin assembly
	UNC45B is a molecular chaperone that mediates the folding of thick-filament myosin during sarcomere formation; however, UNC45B may also mediate specific functions of non-muscle myosins (NMMs)
	is a multidomain molecular chaperone that is essential for the proper folding and assembly of myosin into muscle thick filaments
	is essential for sarcomeric organization and muscle function
	UNC45B provides substrate specificity for the partner chaperones during late stages of myofibrillogenesis
	myosin-specific chaperone involved in assembly, function, and maintenance of type II myosin, facilitating assembly and function of striated muscle contraction
	role of UNC45B as a key regulator of myofibril maintenance and function

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

development

text	cytoskeleton organization
	myogenesis of skeletal muscles

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	chaperone UNC45B inhibits the actin translocation function of myosin
	UNC45B in the earliest stages of muscle development that is independent of muscle muscle myosin heavy chain (mMHC) folding

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ADCC7 , MUNC45BD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS