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FLASH GENE

Symbol

STX16

contributors: mct/pgu - updated : 06-05-2011

HGNC name	syntaxin 16
HGNC id	11431

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PHP1B pseudohypoparathyroidism, type 1B
Location	20q13.32      Physical location : 57.226.327 - 57.254.580
Synonym symbol(s)	HSYN16, SYN16, MGC90328

DNA

TYPE	functioning gene
STRUCTURE	28.26 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	a cis-acting imprinting control element that is necessary for establishing and/or maintaining methylation at GNAS exon A/B, thus allowing normal G alpha(s) expression in the proximal renal tubules

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001134773 9 - 4897 NP_001128245 - 308 - 1998 9587053 also called variant 4/isoform d NM_001001433 9 splicing 4959 NP_001001433 - 325 - 2005 15800843 also called variant 1/isoform a NM_003763 8 splicing 4885 NP_003754 - 304 - 2005 15800843 also called variant 2/isoform b NM_001134772 8 splicing 4936 NP_001128244 - 321 - 1998 9587053 also called variant 3/isoform c

EXPRESSION

Type	ubiquitous

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 adrenal gland       highly   neuroendocrine pituitary     highly Lymphoid/Immune spleen       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	several potential coiled-coil regions
	a t-snare coiled-coil homology domain
	C terminal, hydrophobic tail anchor

HOMOLOGY

Homologene

FAMILY	syntaxin family
	SNARE proteins family

CATEGORY

receptor , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	playing different roles in intracellular trafficking within the organelle
	specifically required for, and restricted to, the retrograde pathway of transport of Shiga toxin
	may play a role in neurite outgrowth and perhaps other specific dendritic anterograde/retrograde traffic
	mediates vesicle transport within the early/late endosomes and trans-Golgi network
	may be mediating recycling of CFTR and constitutes an important component of CFTR trafficking machinery in intestinal epithelial cells
	mediates the apical targeting and/or recycling of CFTR and constitutes an important component of the CFTR trafficking machinery in intestinal epithelial cells
	regulates CFTR activity by increasing surface abundance via its membrane trafficking SNARE function rather than directly affecting CFTR channel

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

endocytosis transport , cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	RASSF1 interacts with STX16 at the midzone and midbody during late mitosis and AURKB is required for this interaction and for the subsequent recruitment of STX16 to the midzone and midbody
	biochemical and functional association between CFTR and syntaxin 16 (STX16) that mediates vesicle transport within the early/late endosomes and trans-Golgi network
	COG8-STX16 interactions (COG8 protein initiate the formation of two different tethering platforms that can facilitate the redirection of two populations of Golgi transport intermediates to the mitochondrial vicinity)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PHP1B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in PHP1B, familial cases only

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS