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FLASH GENE

Symbol

NSMCE3

contributors: mct - updated : 07-05-2020

HGNC name	NSE3 homolog, SMC5-SMC6 complex component
HGNC id	7677

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Digestive esophagus       highly Endocrine adrenal gland       highly   parathyroid       highly Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

IMPRINTING	paternally
text	likely maternally expressed like the neighbour UBE3A gene

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a MAGE domain

HOMOLOGY

interspecies

ortholog to 76p100 identical to the murine Mage-g1 protein

intraspecies

homolog to NDN

Homologene

FAMILY

necdin/MAGE gene family

CATEGORY

signaling growth factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm

basic FUNCTION	growth suppressor that facilitates the entry of the cell into cell cycle arrest
	plays role in the early process of neurogenesis
	its expression was increased with the differentiation time and the interactions between NSMCE3 and FSCN1 or VIM strengthen as well

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

NSMCE1, NSMCE3, EID3 form a tight sub-complex of the large SMC5-6 protein complex

INTERACTION

DNA

RNA

small molecule

protein	binds the C-terminus of E2F1 and NGFR
	NDN and NSMCE3 target both E2F1 and NGFR to regulate cell viability during brain development
	EID3 interact with most NSMCE3/MAGE proteins
	EID3 is able to bind not only the NSMCE3/MAGEG1 subunit of the human SMC5-6 complex but other human MAGE proteins, which are not part of this complex
	functional linkage between NSMCE3, VIM and FSCN1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in a autosomal recessive chromosome breakage syndrome that leads to defective T and B cell function and acute respiratory distress syndrome in early childhood

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS