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FLASH GENE

Symbol

SCYL1

contributors: mct - updated : 28-02-2015

HGNC name	SCY1-like 1 (S. cerevisiae)
HGNC id	14372

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	breakpoint
STRUCTURE	13.55 kb     18 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_020680 18 - 2667 NP_065731 89.5 808 - 2002 12036289 isoform A NM_001048218 18 - 2616 NP_001041683 87.9 791 - 2002 12036289 isoform B

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 Lymphoid/Immune lymph node       highly Nervous brain hindbrain cerebellum     Reproductive female system ovary         female system breast mammary gland       male system testis       Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal serine-threonine kinase-like domain
	four centrally located HEAT repeats
	a secretory carrier membrane protein domain
	C terminal cluster of basic amino-acid residue, with C-terminal protein-interaction motifs

mono polymer

homomer , trimer

HOMOLOGY

interspecies	homolog to C.elegans W0764.3
	homolog to murine Scyl1
	homolog to rattus LOC293684

Homologene

FAMILY

SCY1-like family of kinase-like proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,microsome
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	in the centrosome during the mitosis
	expressed in the axoplasm and concentrated at synapses
	closely co-localized with CEP250 at the proximal ends of centrioles
	an important protein at the interface between the Golgi apparatus and the membrane trafficking machinery mediated by coatomer (COPI)-coated vesicles, and cytoplasmic component of the nuclear tRNA export machinery

basic FUNCTION	involved in centrosome-related cellular function
	involved in intracellular transport processes
	playing an essential role for neuronal and Purkinje cell survival
	accessory factor in coatomer I (COPI) coats trafficking and suggest for the first time that alterations in the COPI pathway result in neurodegenerative disease
	transcriptional regulator, activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes (Zhao 2005)
	functions as a centrosome regulator and is involved in DNA damage response, including telomere dysfunction and tumorigenesis (Gong 2009)
	is required for the maintenance of Golgi morphology
	conserved N-terminal protein kinase-like domain protein that plays a role in COP1-mediated retrograde protein trafficking in mammalian cells
	is a key regulator of motor neuron survival
	functions as a scaffold for key components of COPI coats, and disruption of the scaffolding function of Scyl1 causes tubulation of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC)
	distributes in the centrosomes and regulates centrosome status under both physiologic and pathologic conditions
	closely co-localized with CEP250 at the proximal ends of centrioles, and centriolar loading of SCYL1 stimulated by EGF/AKT could displace CEP250, resulting in centrosome splitting
	is involved in vital intracellular transport processes, which might provide a basis for understanding the molecular mechanism underlying disease states caused by loss of SCYL1

CELLULAR PROCESS	cell cycle, division, mitosis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein	is a novel MCRS1-interacting protein
	downstream effector in EGF/PI3K/AKT1 signaling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR21

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	murine neurodegenerative disease mdf (autosomal recessive mouse mutant 'muscle deficient') is caused by a loss-of-function mutation in Scyl1
	Scyl1(-/-) mice share pathological features with many human neurodegenerative conditions