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FLASH GENE

Symbol

STIL

contributors: mct - updated : 23-08-2014

HGNC name	SCL/TAL1 interrupting locus
HGNC id	10879

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001048166 18 - 5019 NP_001041631 143 1288 - 2007 17576815 NM_003035 17 - 5016 NP_003026 - 1287 - 2007 17576815 NM_001282939 19 - 4898 NP_001269868 - 1223 - 2007 17576815 NM_001282938 19 - 5087 NP_001269867 - 1241 - 2007 17576815 NM_001282937 18 - 5174 NP_001269866 - 1270 - 2007 17576815 NM_001282936 18 - 5225 NP_001269865 - 1287 - 2007 17576815

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 pancreas         Nervous brain       highly Homo sapiens Fetal Visual eye retina     predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Muscular striatum skeletal     Nervous central     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Homo sapiens Visual cone photoreceptor Homo sapiens Visual Muller cell Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage	proliferating cells
cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text	notochordal plate/floor plate, early embryonic development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a putative nuclear localization signal motif KKKTH
	a cysteine- terminal domain
	a coiled-coil region (STIL-CC)

HOMOLOGY

interspecies	homolog to murine Sil
	homolog to zebrafish nbb

Homologene

FAMILY

CATEGORY

structural protein , protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	localizes to the poles of the mitotic spindle during metaphase
	pericentriolar and centrosomal
	localizes to the pericentriolar material surrounding parental centrioles

basic FUNCTION	required for axial development and left-right specification in mouse
	playing a necessary role for proper mitotic spindle organization
	oncogenic action through a dominant - negative mechanism
	required for HH response
	required for mitotic entry and cancer cell survival
	role in derepressing GLI1 from the negative control of SUFU, which is a crucial step for activating Hh signaling in cancer cells
	vertebrate-specific regulator of mitotic spindle assembly, and regulator of mitotic entry and cell survival
	necessary role for proper mitotic spindle organization and localizes to the mitotic spindle poles only during metaphase
	essential for centriole formation and for proper spindle position
	required for centriole duplication
	centrosomal protein that is essential for embryonic development and mutated in primary microcephaly
	essential component of the centriole replication machinery in mammalian cells
	play important roles in the regulation of vertebrate embryonic neural development and cancer cell proliferation
	also playing important roles in neural protection
	functional expression of STIL protects dopaminergic cells from toxin-induced apoptosis
	involvement of STIL in retinal cell proliferation

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	STIL and CENPJ interact with each other and are required for procentriole formation, implying a central role of centriole biogenesis in microcephaly
	cooperates with SASS6 and PLK4 in the control of centriole number and represents a key centriole duplication factor in human cells
	necessary for SASS6 recruitment to centrioles, suggesting that it is essential for daughter centriole formation
	interacts with the centromere protein CENPJ and rapidly shuttles between the cytoplasm and centrioles
	removal or release of luminal SASS6 requires PLK4 and the cartwheel protein STIL
	PLK4 activity promotes the recruitment of STIL to the centriole, and PLK4 primes the direct binding of STIL to the C terminus of SAS6
	STIL protein interacts via its coiled-coil region (STIL-CC) with PLK4 mediating PLK4 activation as well as stabilization of centriolar PLK4 and plays a key role in centriole duplication

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCPH7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with TAL1 in T cell acute lymphocytic leukemia tumoral     --over   in multiple cancers that correlated with the expression of mitotic spindle checkpoint genes and with increased metastatic potential

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     suitable target for novel anticancer therapy

ANIMAL & CELL MODELS

	sil-/-mice lack lefty 1 expression and have a bilateral expression of left-side specific genes
	dominant mutation, night blindness b (nbb), causes a late onset of retinal dopaminergic cell degeneration in zebrafish