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FLASH GENE

Symbol

VAMP7

contributors: mct/npt/pgu - updated : 26-06-2015

HGNC name	vesicle-associated membrane protein 7
HGNC id	11486

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq28      Physical location : 59.213.948 - 155.173.432
Synonym name	tetanus insensitive VAMP (Ti-VAMP)
	synaptobrevin-like 1
	Ti- VAMP/VAMP7
Synonym symbol(s)	TI-VAMP, SYBL1, VAMP-7, TIVAMP

DNA

TYPE	functioning gene
STRUCTURE	62.50 kb     8 Exon(s)

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	inactivated not only on the active X in female but also on the Y chromiosome in male

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

located in the subtelomeric, long arm of the pseudoautosomal region (PARXQ) in the proximal 295kb, undergoing X (and Y) inactivation (escaping to silencing in ICF syndrome)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001185183 7 - 2596 NP_001172112 - 260 - 2011 21609427 NM_005638 8 - 2664 NP_005629 - 220 - 2011 21609427 NM_001145149 7 - 2541 NP_001138621 - 179 - 2011 21609427

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 intestine small intestine       Homo sapiens Endocrine parathyroid         Nervous brain limbic system hippocampus     Homo sapiens Reproductive female system uterus cervix     Urinary kidney         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	N-terminal domains that can interact with their respective SNARE core domains and thereby affect the kinetics of SNARE complex formation
	an amphipathic helix which may participate in coiled coil interactions (V-snare coiled-coil homology domain)
	a longin domain
	a C terminal hydrophobic domain predicted to serve as a membrane anchor

HOMOLOGY

Homologene

FAMILY

synaptobrevin, V-SNARE protein family

CATEGORY

transcription factor , transport

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
text	VAMP3 and VAMP7 colocalize with the major myelin proteolipid protein (PLP1) in recycling endosomes and late endosomes/lysosomes, respectively
	ANKRD27, VAMP7 and RAB21 co-localize in the perinuclear region of differentiating hippocampal neurons and transiently in transport vesicles in the shaft of neurites
	localizes to endosomes and lysosomes but also to the trans-Golgi network
	localizes to melanosomes and is required for pigmentation and cargo trafficking

basic FUNCTION	soluble N ethylmaleimide-sensitive factor-attachment protein receptor
	required with VAMP8 for activation-induced degranulation of mature mast cells
	enriched in intestinal ER and that it plays a functional role in the delivery of triacylglycerol from the ER to the Golgi
	mediates exocytosis during neuritogenesis, phagocytosis and lysosomal secretion
	role in the secretory pathway of a tetraspanin
	adopts a preferentially closed conformation in solution
	with other VAMPs, has differential membrane fusion capacities, and imply that with the exception of VAMP5, VAMPs are essentially redundant in mediating fusion with plasma membrane t-SNAREs
	involvement of VAMP3/cellubrevin and VAMP7/TI-VAMP in myelin membrane trafficking
	controls exocytosis of PLP1 from late endosomal/lysosomal organelles as part of a transcytosis pathway)
	involved in multiple cell pathways, including control of neurite outgrowth
	required in neurons to extend axons to the full extent
	associates with perforin-containing granules in nonactivated cells, indicating that the two VAMPs have different functions in exocytosis
	involved in many fusion processes and thus plays a more general function in NK-cell activity than VAMP4
	unexpected role of VAMP7-mediated vesicular traffic in anxiety, suggesting a role for VAMP7 in higher brain functions
	role for VAMP7 in pigmentation by trafficking melanosomal cargoes such as TYRP1 from endosomes to maturing melanosomes
	VAMP7 and TYRP1 traffic to melanosomes in BLOC1S1–dependent membrane tubules

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

text	may be involved in lysosomal proteins trafficking

PATHWAY

metabolism

signaling

a component	complex between proteins on endosomes/lysosomes and target membranes
	SNARE complex containing VAMP7 and VTI1A defines a novel traffic pathway to the cell surface in both neuronal and non-neuronal cells
	potential role of VAMP7-mediated vesicular traffic in anxiety, suggesting a role in higher brain functions

INTERACTION

DNA

RNA

small molecule

protein	interacting with AGFG1 (may interact only during the early stages of endocytosis)
	required for secretion from the Golgi apparatus to the cell surface, and VAMP7-positive vesicles transport CD82
	ANKRD27-VAMP7 interaction is essential for the peripheral melanosomal distribution of TYRP1 in melanocytes
	interacts with ANKRD27, a guanine nucleotide exchange factor (GEF) of the small GTPase RAB21, through a specific domain herein called the interacting domain (ID)
	SNARE machinery composed of VAMP7 on TYRP1-containing vesicles and STX3 and SNAP23 on melanosomes regulates TYRP1 trafficking to the melanosome in melanocytes
	PICALM is able to sort VAMP4 and VAMP7, even though they have sorting signals for other clathrin adaptors
	RELN mobilizes a VAMP7-dependent synaptic vesicle pool and selectively augments spontaneous neurotransmission
	mutual dependency between STX13 and VAMP7 in regulating their localization for efficient cargo delivery to melanosomes
	in addition to VAMP7, ANKRD27 binds to RAB32/38
	HPS4 regulates recycling of VAMP7 from melanosomes, most likely by recruiting RAB38 and consequently ANKRD27 to initiate and/or complete tubule formation

cell & other

REGULATION

Other

DNA methylation plays an essential role for the maintenance of X- and Y-inactivation of SYBL1

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS