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FLASH GENE

Symbol

CD109

contributors: mct - updated : 15-03-2016

HGNC name	CD109 molecule
HGNC id	21685

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_133493 33 - 9464 NP_598000 161.7 1445 - 2006 16754747 isoform 1 precursor NM_001159587 33 - 9119 NP_001153059 - 1428 - 2006 16754747 isoform 2 precursor NM_001159588 32 - 8939 NP_001153060 - 1368 - 2006 16754747 isoform 3 precursor

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 Cardiovascular vessels aorta       Digestive esophagus       highly digestive mouth gingiva       Endocrine parathyroid       predominantly Lymphoid/Immune thymus         Homo sapiens Fetal Reproductive female system uterus       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Muscular smooth vessel     Homo sapiens Fetal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic platelet Homo sapiens Blood/Hematopoietic progenitor cell Cardiovascular endothelial cell Homo sapiens Fetal Lymphoid/Immune T cell

cell lineage	stem cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal leader peptide
	17 potential N-linked glycosylation sites
	alpha-2-macroglobulin motif
	a C-terminal GPI anchor cleavage-addition site, that is required for its presence in the exosome

conjugated

GlycoP

mono polymer

monomer

HOMOLOGY

interspecies

ortholog to murine CD109

Homologene

FAMILY

protease inhibitor I39 (alpha-2- macroglobulin) family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
text	bound to the cell membrane by a GPI anchor

basic FUNCTION	endopeptidase inhibitor activity with a wide spectrum of protein targets, which attaches through its thioester function
	may play a role in hematopoiesis ans in hemostasis
	may play a role in the development of lung squamous cell carcinoma
	plays a unique role in the regulation of isoform-specific TGF-beta signaling in keratinocytes
	CD109 associates with caveolin-1 (CAV1), a major component of the caveolae
	CD109 regulates TGFB1 receptor endocytosis and degradation to inhibit TGFB1 signaling
	has the characteristics of a cancer-testis antigen
	might be an important regulator of osteoclastogenesis
	soluble CD109 antagonizes TGFB1-induced Smad2/3 phosphorylation, transcription and cell migration

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component	component of the TGF-beta receptor system, and a negative modulator of TGF-beta responses in keratinocytes
	is a component of the exosome in conditioned medium

INTERACTION

DNA

RNA

small molecule

protein	CD109, a GPI-anchored protein, is a TGFB1 co-receptor and a negative regulator of TGFB1 signaling
	HSP90B1 serves as an essential chaperone for the cell-surface protein glycoprotein A repetitions predominant (CD109), which is a docking receptor for latent membrane-associated TGFB1
	CD109, a glycosylphosphatidylinositol (GPI)-anchored protein, is a novel TGFB1 co-receptor that negatively regulates TGFB1 signalling and responses

cell & other

REGULATION

activated by

proteolytic cleavage and then capable of thioester-mediated covalent binding to adjacent molecules or cells

Other

processing of CD109 into 180kDa and 25kDa proteins by furin, followed by complex formation with TGF-beta receptor is required for the regulation of TGF-beta signaling in cancer cells and keratinocytes (Hagiwara 2010)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   expressed in myoepithelial cells of mammary, salivary, and lacrimal glands; and in prostate basal cells tumoral     --over   in cervical squamous cell carcinomas than in endometrial adenocarcinomas tumoral     --over   significantly overexpressed in pancreatic tumors compared to normal pancreas tumoral     --over   in cutaneous squamous cell carcinoma constitutional       gain of function in scleroderma or systemic sclerosis (SSc)

Susceptibility

Variant & Polymorphism SNP	Gov alleles differ by an A to C single nucleotide polymorphism at position 2108 of the coding region, resulting in a tyr/ser substitution at CD109 amino acid 703 and this SNP correlates with the Gov phenotype

Candidate gene	useful marker for the diagnosis of invasive breast and prostate carcinomas
Marker
Therapy target
	System Type Disorder Pubmed dermatology skin   potential therapeutic value for the treatment of Scleroderma or systemic sclerosis (SSc)

ANIMAL & CELL MODELS