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FLASH GENE

Symbol

IQSEC1

contributors: mct - updated : 26-11-2019

HGNC name	IQ motif and Sec7 domain 1
HGNC id	29112

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	176.39 kb     14 Exon(s)

regulatory sequence

Promoter

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_001134382 14 - 7388 NP_001127854 - 1114 - 2006 16807291 isoform BRAG2a, a novel component of the photoreceptor dystrophin-associated glycoprotein complex (DGC), at the photoreceptor terminal NM_014869 14 - 5248 NP_055684 108 963 - 2006 16807291 NM_001330619 13 - 7343 NP_001317548 - 814 - 2006 16807291

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 blood / hematopoietic spleen         Cardiovascular heart       highly Digestive liver         Endocrine pancreas         Nervous brain       highly Reproductive female system ovary         male system prostate     highly   male system testis       Urinary kidney         Visual eye retina       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal IQ-like motif
	a central serine-rich region and Sec7 domain (sec7d), a Sec7-PH tandem domain
	a C-terminal pleckstrin homology (PH) domain, (the PH domain and the interdomain linker of IQSEC1 may be targets for selectively regulating the activity of IQSEC1)

HOMOLOGY

interspecies

homolog to murine Iqsec1 (95.8pc)

Homologene

FAMILY

family of guanine nucleotide exchange factors for ADP ribosylation factors

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	IQSEC1 and ARF5 localize to clathrin-coated pits at the plasma membrane

basic FUNCTION	having a role in activation of ARF6 for its functions in E-cadherin recycling and actin remodeling
	responsible for the invasive activity of ARF6 in breast cancer cells
	IQSEC1, IQSEC2 control activity-dependent removal of AMPA receptors from glutamatergic synapses, a process that is required for long-term synaptic depression
	in the CNS, IQSEC1 is concentrated in postsynaptic densities and plays a critical role in the development and plasticity of glutamatergic synapses
	mediates SEMA3E-induced ARF6 activation in endothelial cells
	plays a significant role in pancreatic cancer invasion through regulating the expression of E-cadherin and the process of mesenchymal to epithelial transition (MET)
	acts at clathrin-coated pits to promote integrin internalization by activating ARF5 and suggest a previously unrecognized role for ARF5 in clathrin-mediated endocytosis of specific cargoes
	small GTPases that regulate membrane trafficking and actin cytoskeleton
	IQSEC1, IQSEC2, IQSEC3 have key roles in the function and organization of distinct excitatory and inhibitory synapses in the retina
	is essential for developmental and pathological angiogenesis by promoting Endothelial cells sprouting through regulation of adhesion by mediating beta1-integrin internalization
	having a conserved function in myoblast fusion
	plays a critical role in neuronal development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

IQSEC1-ARF6-ASAP1-cortactin pathway is essential for angiogenesis activities, including cell migration and tubular formation

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with CTNNA1
	interacting with ARF6
	responsible for the ARF6 activation to induce invasion and metastasis, by directly binding to ligand-activated epidermal growth factor receptor (EGFR)
	functions in phagocytosis via its role in ARF6-dependent actin remodeling
	in addition to ARF6, endogenous IQSEC1 also activates the class II Arfs, ARF4 and ARF5, and surprisingly, ARF5 mediates integrin internalization
	MAP4K4 can activate ARF6 via IQSEC1 and enhance focal adhesions dissolution
	IQSEC1 binds to DLG4
	IQSEC1 is a guanine nucleotide exchange factor for ADP-ribosylation factor 6 (ARF6), a critical GTPase that regulates endosomal trafficking and actin cytoskeleton remodeling

cell & other

REGULATION

Other

is allosterically regulated by PIP(2) binding to the PH domain and activity depends on the interdomain linker

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer endocrine pancreas possibility of it becoming a potential therapeutic target against pancreatic cancer

ANIMAL & CELL MODELS

loss of Iqsec1 in neurons of the mouse cortex leads to defects in the maturation of dendritic spines