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FLASH GENE

Symbol

SIPA1L3

contributors: mct - updated : 26-10-2018

HGNC name	signal induced proliferation associated 1 like 3
HGNC id	23801

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Rap GTPase-activating protein (Rap-GAP) domain
	a PDZ domain, a domain of unknown function (DUF3401)
	a C-terminal coiled-coil domain required for postsynaptic targeting and represents an interaction module for Fezzins such as LZTS3, a binding partner of the postsynaptic scaffold protein SHANK3

HOMOLOGY

Homologene

FAMILY

SPAR family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	critical role for SIPA1L3 in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization
	essential modulator of synaptic signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	GTPase-activating protein (GAP), which interacts with small GTPases of the Rap family via its Rap-GAP-domain
	direct interaction between SIPA1L3 and EPHA4, building a functional platform for proper ocular development

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARCC9

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sipa1l3(-/-) mice showed disrupted epithelial cell organization and polarity and, notably, abnormal epithelial to mesenchymal transition in the lens