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FLASH GENE

Symbol

SCUBE1

contributors: mct/npt - updated : 13-01-2021

HGNC name	signal peptide, CUB domain, EGF-like 1
HGNC id	13441

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	22q13.2      Physical location : 43.599.229 - 43.739.355
Synonym name	signal peptide-CUB domain-EGF-related 1
Synonym symbol(s)	FLJ30901, FLJ31928

DNA

TYPE	functioning gene
STRUCTURE	146.09 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D22S1179 - SCUBE1 - D22S282 - qter
Authors	Grimmond (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_173050 22 - 9795 NP_766638 108 988 - 2002 12270931

EXPRESSION

Type	restricted

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 Cardiovascular vessel         Homo sapiens Lymphoid/Immune spleen         Nervous nerve         Respiratory lung         Urinary kidney         Visual eye anterior segment iris

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Homo sapiens Cardiovascular endothelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	gonad, nervous sytem, somites surface echoderm, limb, buds

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal signal peptide sequence
	nine tandemly arranged epidermal growth factor (EGF)-like repeats
	a spacer region
	three cysteine-rich repeat motifs (CR) motifs with multiple potential N-linked glycosylation sites
	one CUB domain at the C terminus

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

SCUBE family

CATEGORY

adhesion , signaling growth factor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	may play important roles in development, inflammation, and thrombosis
	platelet-derived protein that could function as a novel adhesive molecule and may play critical (patho)physiological roles in cardiovascular biology
	platelet-endothelial secreted protein, elevated in patients with acute coronary syndrome and ischemic stroke
	platelet-derived SCUBE1 plays a critical role in arterial thrombosis via its adhesive EGF-like repeats

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	brain morphogenesis

PATHWAY

metabolism

signaling

a component

SCUBE1 forms a complex with BMP2 ligand and its receptors, thus acting as a BMP co-receptor to augment BMP signal activity

INTERACTION

DNA

RNA

small molecule

protein

SCUBE1 directly binds to BMP7 and its receptors, functioning as a BMP co-receptor to promote BMP7 signaling

cell & other

REGULATION

Other

plasma SCUBE1 might subject to a proteolytic regulation under pathological conditions

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     may be, in the del 22q13 syndrome constitutional     --over   in acute coronary syndrome (ACS) and acute ischemic stroke (AIS), but not in chronic coronary artery disease (CAD) constitutional     --over   elevated levels of SCUBE1, a novel platelet activation marker, in primary hypertensive patients

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	biomarker of platelet activation in acute coronary syndrome (ACS) and acute ischemic stroke (AIS)
	is a novel platelet activation marker
	increased serum SCUBE1 concentrations have close relation to increasing severity and poor prognosis of intracerebral hemorrhage (ICH)
	plasma SCUBE1 measurement may have diagnostic, therapeutic, or prognostic value in testicular torsion (TT)
	SCUBE1 may be a promising biomarker for the early diagnosis of ovarian torsion (OT)
Therapy target
	System Type Disorder Pubmed blood coagulation   blockade of soluble SCUBE1 might represent a novel antithrombotic strategy blood coagulation   targeting theadhesive motifs of SCUBE1 is a potential anti-thrombotic strategy

ANIMAL & CELL MODELS

plasma deficiency of Sube1 diminished arterial thrombosis in mice and protected against lethal thromboembolism induced by collagen-epinephrine treatment