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FLASH GENE

Symbol

NBEA

contributors: mct - updated : 18-10-2017

HGNC name	neurobeachin
HGNC id	7648

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 Endocrine neuroendocrine pituitary     highly Nervous brain forebrain cerebral cortex   specific Homo sapiens   brain hindbrain cerebellum   highly Homo sapiens   brain forebrain cerebral lobe occipital predominantly Homo sapiens Respiratory respiratory tract trachea     highly Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual     Nervous central     specific Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a concanavalin A-like lectin domain flanked by armadillo repeats (ACA),
	an A-kinase anchoring protein domain that can bind to PRKCA,
	a domain of unknown function (DUF1088)
	a BEACH domain (beige and Chediak-Higashi domain), preceded by a pleckstrin homology-like domain and followed by C-terminal WD40 repeats (PBW)

HOMOLOGY

interspecies	homolog to murine Nbea
	homolog to Drosophila protein kinase A anchoring protein RG

Homologene

FAMILY

BEACH domain family of proteins

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	predominantly in neuronal cell bodies and along neurites within intensely stained punctate structure

basic FUNCTION	presumptive protein kinase A anchoring function
	may be involved in membrane trafficking events
	neuron-specific multidomain protein implicated in membrane trafficking that is predominantly expressed in the brain and during development
	putative regulator of membrane protein trafficking associated with tubulovesicular endomembranes and postsynaptic plasma membranes
	function at central synapses that may be based on its presumed role in targeting membrane proteins to synaptic contact
	role of VPS35 and NBEA in the retrieval and post-Golgi trafficking of synaptic GLYRs and possibly other neurotransmitter receptors
	potential roles of VPS35 and NBEA in inhibitory receptor trafficking
	potential role in trafficking important cargo to pre- and postsynaptic compartments
	regulates neuronal membrane protein trafficking and is required for the development and functioning of central and neuromuscular synapses
	potential risk gene in human obesity
	is important also for the functioning of central synapses, where it is suggested to play a role in trafficking membrane proteins to both, the pre- and post-synaptic sites
	regulates synaptic transmission under basal conditions by targeting neurotransmitter receptors to synapses
	acts as a critical regulator in the postsynaptic neuron for the coordination of dendritic morphology with synaptogenesis
	brain specific, and is required for synaptic surface expression of both glutamate and GABA receptors
	regulates glutamate- and GABA-Receptor targeting to synapses via distinct pathways
	role for NBEA as transcriptional regulator in the nucleus

CELLULAR PROCESS	cell life, antiapoptosis

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	GLRB binds the trafficking proteins VPS35 and Neurobeachin (NBEA)
	interacts with the GLRB loop but not with gephyrin (GPHN)
	DLG3 binds the C-terminal part of the scaffolding protein neurobeachin (NBEA)
	physical interaction of NBEA with NOTCH1 is most relevant for autism spectrum disorders (ASD) pathogenesis because NOTCH signaling is essential for neural development

cell & other

peripherally associated with several membrane compartments including trans-Golgi network and endosome-like structures

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   expression are frequently disrupted in multiple myeloma

Susceptibility

Variant & Polymorphism

Candidate gene	for AUTS3
Marker
Therapy target

ANIMAL & CELL MODELS

	deletion of Nbea leads to reduced numbers of spinous synapses in cultured neurons from complete knockouts and in cortical tissue from heterozygous mice, accompanied by altered miniature postsynaptic currents
	Nbea-null mice have severe defects in neuromuscular synaptic transmission resulting in lethal paralysis of the newborns