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FLASH GENE

Symbol

UNC13A

contributors: mct/npt - updated : 08-07-2014

HGNC name	unc-13 homolog A (C. elegans)
HGNC id	23150

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_001080421 45 - 10102 NP_001073890 - 1791 - 2004 15123597

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 Endocrine neuroendocrine pituitary     highly   pancreas       moderately Nervous brain       highly   nerve       highly Reproductive female system ovary     moderately   male system testis     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a MUN domain, which plays a central role in vesicle priming

HOMOLOGY

interspecies

homolog to rattus Munc 13.1

Homologene

FAMILY

unc-13 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm

basic FUNCTION	diacylglycerol and phorbol ester receptor playing an essential role in synaptic vesicle priming
	in addition to protein kinase C, significantly contributes to the regulation of secretory APP metabolism
	regulates the release of neurotransmitters such as glutamate at neuromuscular synapses (Van Es 2009)
	UNC13A, STXBP1 regulate early neurite outgrowth
	mediates the transition from the closed syntaxin-STXBP1 complex to the SNARE complex
	requirement of UNC13A for lipid mixing of STX1–STXBP1 liposomes with synaptobrevin liposome
	is essential for synaptic transmission
	although CADPS and UNC13A play crucial roles in the priming stage of secretion, their functions are non-redundant

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction between UNC13A and RIMS1 is critical for glucagon-like peptide-1 mediated rescue of exocytotic defects in UNC13A deficient pancreatic beta-cells
	resulting STXBP1–UNC13A-SNARE assembly underlies the primed state that enables fast membrane fusion through the action of synaptotagmin-1 and Ca2+
	UNC13B and UNC13C limit the ability of UNC13A to regulate calcium-dependent replenishment of readily releasable pool and slow pool to fast pool conversion in central synapses
	CADPS binds to syntaxin-1 in a distinct mode from UNC13A

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to sporadic amyotrophic lateral sclerosis

Variant & Polymorphism SNP	increasing the risk of sporadic amyotrophic lateral sclerosis (Van Es 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS