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FLASH GENE

Symbol

MYO5B

contributors: mct - updated : 27-08-2015

HGNC name	myosin VB
HGNC id	7603

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MVID microvillus inclusion disease
Location	18q21.1      Physical location : 47.349.155 - 47.721.451
Synonym name	MYO5B variant protein
Synonym symbol(s)	KIAA1119

DNA

TYPE	functioning gene
STRUCTURE	372.28 kb     40 Exon(s)

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_001080467 40 - 9520 NP_001073936 213.5 1848 - -

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       moderately Digestive intestine large intestine colon   moderately   intestine small intestine     highly   liver       lowly   stomach       specific Endocrine thyroid       moderately Reproductive female system breast mammary gland   highly Respiratory lung       moderately Urinary kidney       highly

cell lineage
cell lines
fluid/secretion	predominantly in lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a myosin head-like domain
	six IQ domains
	a dilute domain

HOMOLOGY

interspecies	homolog to rattus Myo5b (90.1 pc)
	homolog to murine Myo5b (90.4 pc)

Homologene

FAMILY

myosin superfamily

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	present in nucleoli where it co-localises with RNA polymerase I, and newly synthesised ribosomal RNA (rRNA), indicating that it may play a role in transcription

basic FUNCTION	having a motor activity
	regulating plasma membrane recycling through its association with Rab11a
	RAB11A, MYO5B, RAB11FIP2 regulate plasma membrane recycling in epithelial cells
	play critical roles in the proper trafficking and recycling of a large number of diverse intracellular cargoes (Roland 2009)
	Ca2+-sensitive motor, conducts spine trafficking during long-term potentiation of synaptic strength
	may provide a molecular basis for actin-dependent organelle transport and regulate membrane trafficking along the recycling pathway in polarized epithelial cells
	multifunctional motors recruited by a variety of Rab proteins to perform multiple tasks in a variety of distinct and overlapping recycling system (Roland 2009)
	potentially serves a role in rRNA transcription
	with other myosin 5, are important modulator of synaptic plasticity
	having an important role in the transport and turnover of mRNA
	MYO5A, MYO5B, and MYO5C, are involved in transport of multiple cargoes

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

MYO5B/RAB11A/RAB11FIP2 platform is spatially involved in the regulation of CD207 trafficking at two distinct sites within live cells

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	interacting with RAB11FIP2
	binding to actin
	binding to calmodulin
	interacting with CFTR (required for CFTR recycling in RAB11a-specific apical recycling endosomes in polarized human airway epithelial cells)
	can interact with RAB10, based on the presence of an alternatively spliced exon sequence (Roland 2009)
	interact with RAB11A and RAB8 in different recycling systems
	effector for RAB8a, RABb10, and RABb11a, all of which are implicated in regulating different pathways for recycling of proteins to the plasma membrane (MYO5B is required for apical membrane trafficking and de novo lumen formation, dependent on association with both RAB8a and RAB11a)
	RAB10 interaction with myosin Vb (MYO5B) determines the formation of RAB10 carriers and is important for axon development
	tripartite association of RAB11A with both RAB11FIP2 and MYO5B regulates recycling endosome trafficking
	membrane tethering mediated by endosomal RAB11A is drastically and selectively stimulated by its cognate Rab effectors, MYO5A and MYO5B, in a GTP-dependent manner

cell & other

REGULATION

Other

motor functions of MYO5A and MYO5B are regulated by a tail inhibition mechanism

ASSOCIATED DISORDERS

corresponding disease(s)

MVID

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia (Kuang 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS