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FLASH GENE

Symbol

STX1A

contributors: mct - updated : 13-02-2015

HGNC name	syntaxin 1A (brain)
HGNC id	11433

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q11.23      Physical location : 73.113.534 - 73.134.017
Synonym name	neuron specific antigen
	soluble N ethylmaleimide-sensitive factor-attachment protein receptor
	neuron-specific antigen HPC-1
Synonym symbol(s)	HPC-1, STX1, ST1A, SX1A, p35-1

DNA

TYPE	functioning gene
STRUCTURE	20.48 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see WBS1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001165903 10 - 2092 - 251 - 2002 11977160 NM_004603 10 - 2138 - 288 - 2002 11977160

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 Nervous brain hindbrain cerebellum       spinal cord         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Lymphoid         Muscular striatum skeletal     Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil Lymphoid/Immune lymphocyte

cell lineage
cell lines	neutrophil-differentiated Hl-60, SH-SYSY neuroblastoma cells
fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	nervous system, spinal cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 120 residues N terminal domain containing three long alpha helices forming an up and down bundle with a left handed twist
	a C-terminal SNARE domain (residues 183-230) binding to Gbeta

HOMOLOGY

interspecies	ortholog to rattus Stx1a (99pc)
	ortholog to murine Stx1a (99pc)
	homolog to Drosophila Syx1a (71pc)

Homologene

FAMILY

syntaxin/epimorphin family

CATEGORY

storage , transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,granule
text	granule membranes, (located on the plasma membrane)

basic FUNCTION	SNARE protein, involved in the intracellular membrane transport and exocytosis process of neurotransmitters, strongly related to the cognitive processes
	dynamically regulating N-type channel function during various steps of exocytosis
	potentially involved in docking of synaptic vesicles at presynaptic active zones
	important regulator of normal in utero development, but may not be essential for normal brain function later in life
	occurs in clusters that are different from lipid rafts in neuroendocrine plasma membranes
	may play a critical role in neurotransmitter exocytosis
	catalyzing neuronal exocytosis because it is clustered in the plasma membrane at sites where synaptic vesicles undergo exocytosis
	dual role of VAMP1, SNAP25, STX1A in exo- and endocytosis suggests that SNARE proteins may be molecular substrates contributing to the exocytosis-endocytosis coupling, which maintains exocytosis in secretory cells
	novel mode of binding between CAPS1 and syntaxin-1, which play a crucial role in neurosecretion
	cell death upon STXBP1, STX1A, or SNAP25 loss occurs via a degenerative pathway unrelated to the known synapse function of these proteins and involving early cis-Golgi abnormalities, distinct from apoptosis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

exocytosis transport , cellular trafficking transport

text	protein transporter
	intracellular protein transport
	neurotransmitter transport
	regulation of insulin secretion

PATHWAY

metabolism

signaling

a component	constituent of a synaptic core complex with synaptosome associated proteins and synaptobrevin
	component of the presynaptic SNARE complex

INTERACTION

DNA

RNA

small molecule

protein	SNAP25
	PSEN1
	VAMP2
	CPLX1
	SYTL4
	STXBP6
	VAMP8
	SNAP23
	VAPA
	SYBU
	functional interactions between STX1A and CACNA1B calcium channels are critical for fast neurotransmitter release in the mammalian brain
	very intimate STX1A-ABCC9 interactions are critically important for myocardial protection during stress, in which profound changes in metabolic factors (pH, ATP) could modulate these STX1A-ABCC9 interactions
	STXBP1 is a central regulator of neurotransmitter release, interacting with STX1A and APBA1
	NCOA6 inhibits likely regulated exocytosis through the interaction of its C2 domain with STX1A and SNAP25, potentially competing with other SNARE-binding, C2 domain-containing accessory proteins such as SYT1 and by directly inhibiting trans-SNARE complex formation
	STXBP1 plays a dual role in transporting syntaxin-1A (STX1A) to the plasma membrane and regulating SNARE-mediated membrane fusion
	role for STXBP1 in facilitating exocytosis linked to the loop region of domain 3a that is clearly distinct from its function in STX1A transport
	PTPRT could regulate the interaction of STXBP1 with STX1A, and as a result, the synaptic vesicle fusion appeared to be controlled through dephosphorylation of STXBP1

cell & other

N-type Ca2+ channels

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in Williams syndrome

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS