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FLASH GENE

Symbol

CSMD1

contributors: mct - updated : 06-12-2017

HGNC name	CUB and Sushi multiple domains 1
HGNC id	14026

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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]

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed CSMD1-L - - 11000 383 3508 - Sun CSMD1-S - - 10940 370 3389 - Sun lack sushi domain 22-23

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 Hearing/Equilibrium ear inner cochlea     Homo sapiens Nervous brain hindbrain cerebellum     Homo sapiens Reproductive male system testis         male system prostate       Visual eye

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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