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FLASH GENE

Symbol

RMDN3

contributors: mct/npt - updated : 10-02-2021

HGNC name	regulator of microtubule dynamics protein 3
HGNC id	25550

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018145 13 - 2251 NP_060615 - 470 - 2017 27734150 NM_001323894 13 - 2130 NP_001310823 - 470 - 2017 27734150 NM_001323896 13 - 2208 NP_001310825 - 496 - 2017 27734150 NM_001304802 13 - 2216 NP_001291731 - 470 - 2017 27734150 NM_001323895 13 - 2347 NP_001310824 - 341 - 2017 27734150 NM_001323897 13 - 2324 NP_001310826 - 496 - 2017 27734150

EXPRESSION

Type

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 Digestive intestine small intestine         salivary gland         Reproductive female system ovary         female system uterus cervix     Skin/Tegument skin       highly Visual eye retina       Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis stratum basale   Epithelial sensory visual ganglion cell layer   Homo sapiens Adult

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte Visual cone photoreceptor Homo sapiens Visual ganglion cell Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

HOMOLOGY

Homologene

FAMILY

FAM82/RMD family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle

basic FUNCTION	may be involved in the regulation of cellular processes associated with differentiation, movement, or cytoskeletal organization
	might be involved in the regulation of cellular processes associated with differentiation, movement, or cytoskeletal organization (Stenzinger 2005)
	implicated in differentiation of human muscle cells (Barop 2009)
	is implicated in the differentiation process of immature photoreceptors and because it is specifically localized in the inner segment, RMND3 may contribute to the complex stage of maturation of the apical segment of these cells
	VAPB and RMND3 localise and form contacts at synapses, and stimulating neuronal activity increases ER-mitochondria contacts and the VAPB-RMND3 interaction
	is a determinant of endoplasmic reticulum-mitochondria proximity in Purkinje cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	VAPB interacts with the outer mitochondrial membrane protein, protein tyrosine phosphatase-interacting protein 51 (RMDN3)
	TARDBP leads to activation of GSK3B and GSK3B regulates the VAPB-RMDN3 interaction
	RMDN3 mRNA and protein expression is regulated by RELA
	OSBPL5 and OSBPL8 are also localized to ER-mitochondria contacts and interact with the outer mitochondrial membrane protein RMDN3
	the mechanism by which the VAPB-RMDN3 tethers regulate autophagy involves their role in mediating delivery of Ca2+ to mitochondria from ER stores
	VAPB-RMDN3 tethers regulate macroautophagy/autophagy

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in prostate carcinoma (Koch 2009) constitutional     --low   loss of either VAPB or RMDN3 perturbs uptake of Ca(2+) by mitochondria following release from ER stores

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS