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FLASH GENE
Symbol SCUBE1 contributors: mct/npt - updated : 18-06-2008
HGNC name signal peptide, CUB domain, EGF-like 1
HGNC id 13441
Location 22q13.2      Physical location : 43.599.229 - 43.739.355
Synonym name signal peptide-CUB domain-EGF-related 1
DNA
TYPE functioning gene
STRUCTURE 140.00 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)
Physical map
LOC388906 22 hypothetical gene supported by BC039496 LOC150371 22q13.31 hypothetical LOC150371 NFAM1 22q13.31 NFAT activation molecule 1 SERHL 22q13.2-q13.31 serine hydrolase-like CGI-96 22q13.2-q13.31 CGI-96 protein dJ222E13.1 22q13 kraken-like dJ222E13.2 22q13.31 similar to CGI-96 PDIP46 RNU12P 22 RNA, U12 small nuclear pseudogene DIA1 22q13.2 diaphorase (NADH) (cytochrome b-5 reductase) A4GALT 22q13.2 alpha 1,4-galactosyltransferase LOC388907 22 similar to ribosomal protein L5; 60S ribosomal protein L5 LOC391337 22 similar to hypothetical protein ARFGAP3 22q13.2-q13.3 ADP-ribosylation factor GTPase activating protein 3 PACSIN2 22q13.31 protein kinase C and casein kinase substrate in neurons 2 TTLL1 22q13.1 tubulin tyrosine ligase-like 1 BIK 22q13.31 BCL2-interacting killer (apoptosis-inducing) MT 22q13.31 malonyl-CoA:acyl carrier protein transacylase (malonyltransferase) BZRP 22q13.31 benzodiazapine receptor (peripheral) KIAA0153 22q13.31 benzodiazapine receptor (peripheral) SCUBE1 22q13.2-q13.3 signal peptide, CUB domain, EGF-like 1 DKFZp547I094 22q13.31 hypothetical protein DKFZp547I094 LOC388908 22 similar to chromosome 22 open reading frame 1; adult brain protein 239 FLJ23588 22q13.1-q13.33 CAP-binding protein complex interacting protein 1 YWHAQP2 22q12-qter YWHAQ pseudogene 2 HMG17L1 22q13.31 high-mobility group (nonhistone chromosomal) protein 17-like 1 SULT4A1 22q13.2-q13.31 sulfotransferase family 4A, member 1 LOC150379 22q13.31 GS2 like C22orf20 22q13.31 chromosome 22 open reading frame 20 CGI-51 22q13.31 CGI-51 protein PARVB 22q13.2-q13.33 parvin, beta
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 3828 108 988 - Tu (2006)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Lymphoid/Immunespleen    
Nervousnerve    
Respiratorylung    
Urinarykidney    
Visualeyeanterior segmentiris  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticplatelet
Cardiovascularendothelial cell
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
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text
  • brain morphogenesis
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • biomarker of platelet activation in acute coronary syndrome (ACS) and acute ischemic stroke (AIS)
  • Therapy target plasma SCUBE1 might subject to a proteolytic regulation under pathological conditions
    ANIMAL & CELL MODELS