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FLASH GENE
Symbol CSMD1 contributors: mct - updated : 06-12-2016
HGNC name CUB and Sushi multiple domains 1
HGNC id 14026
Location 8p23.2      Physical location : 2.792.875 - 4.852.328
Synonym name CUB and sushi domain-containing protein 1
Synonym symbol(s) KIAA1890
DNA
TYPE functioning gene
STRUCTURE 2057.00 kb     71 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D8S1806 - [D8S1824 - D8S1781 ] - D8S1788 - D8S262 - cen
Authors Sun (01)
Text [CSMD1 critical region]
Physical map
LOC389700 8 similar to bA110H4.2 (similar to membrane protein) LOC392168 8 hypothetical gene supported by AK127000 LOC153561 8 hypothetical protein LOC153561 LOC169270 8p23.3 hypothetical protein LOC169270 LOC392278 8 similar to Rab coupling protein; Rab-interacting recycling protein; Rab effector protein; rab11-family interacting protein 1 FBXO25 8p23.3 F-box only protein 25 LOC392169 8 LOC392169 INM01 8p23.3 hypothetical protein INM01 LOC389607 8 hypothetical gene supported by AK128318 LOC157697 8p23.3 hypothetical protein LOC157697 LOC392170 8 similar to hypothetical protein P1295.15 LOC346910 8p23.3 similar to putative nuclear protein (4B256) LOC392171 8 similar to ENSANGP00000017949 LOC392172 8 similar to hypothetical protein LOC392173 8 similar to Proline-rich protein MP-2 precursor LOC389608 8 LOC389608 LOC392174 8 similar to stage-specific S antigen homolog DLGAP2 8p23 discs, large (Drosophila) homolog-associated protein 2 CLN8 8p23.3 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) LOC286088 8p23.3 similar to TBP-associated factor 15 isoform 1; TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68 kD; TATA box-binding protein-associated factor 2N (RNA-binding protein 56); TATA box binding protein (TBP)- ARHGEF10 8p23 Rho guanine nucleotide exchange factor (GEF) 10 KIAA0711 8p23.3 Homo sapiens KIAA0711 gene product (KIAA0711), mRNA. LOC392175 8 similar to high molecular weight glutenin subunit x MYOM2 8p23.3 myomesin (M-protein) 2, 165kDa LOC392176 8 similar to proteoglycan core protein, cartilage - bovine (fragments) LOC392177 8 LOC392177 LOC389609 8 hypothetical gene supported by AK128880 CSMD1 8p23.2 CUB and Sushi multiple domains 1 LOC392178 8 similar to ribosomal protein L24-like; 60S ribosomal protein L30 isolog; my024 protein; homolog of yeast ribosomal like protein 24 LOC392179 8 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 11000 383 3508 - Sun
- - 10940 370 3389 - Sun
lack sushi domain 22-23
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea   Homo sapiens
Nervousbrain    
Reproductivemale systemtestis   
 male systemprostate   
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver,spleen
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminus, which contains a signal peptide,
  • 14 alternating CUB and sushi domains
  • 13 additional tandem sushi domains
  • a transmembrane region,
  • 63-amino acid C-terminal cytoplasmic tail, which contains several phosphorylation site
  • C terminal transmembrane domain
  • HOMOLOGY
    interspecies homolog to murine Csmd1
    Homologene
    FAMILY CSMD gene family
    CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a possible role in carcinogenesis
  • may be an important regulator of complement activation and inflammation in the developing CNS, and it may also play a role in the context of growth cone function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    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
    tumoral   deletion    
    in head and neck carcinoma
    Susceptibility to multiple sclerosis
    Variant & Polymorphism other increasing the risk of multiple sclerosis (Baranzini (2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS