Human Gene CD109 (uc003php.3) Description and Page Index
Description: Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA. RefSeq Summary (NM_133493): This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. Transcript (Including UTRs) Position: hg19 chr6:74,405,508-74,538,041 Size: 132,534 Total Exon Count: 33 Strand: + Coding Region Position: hg19 chr6:74,405,939-74,533,357 Size: 127,419 Coding Exon Count: 33
ID:CD109_HUMAN DESCRIPTION: RecName: Full=CD109 antigen; AltName: Full=150 kDa TGF-beta-1-binding protein; AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7; AltName: Full=Platelet-specific Gov antigen; AltName: Full=p180; AltName: Full=r150; AltName: CD_antigen=CD109; Flags: Precursor; FUNCTION: Modulates negatively TGFB1 signaling in keratinocytes. SUBUNIT: Heterodimer; disulfide-linked. Interacts with TGFB1 and TGFBR1. Forms a heteromeric complex with TGFBR1, TGFBR2 and TGFBR3 in a ligand-independent manner. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. TISSUE SPECIFICITY: Widely expressed with high level in uterus, aorta, heart, lung, trachea, placenta and in fetal heart, kidney, liver, spleen and lung. Expressed by CD34(+) acute myeloid leukemia cell lines, T-cell lines, activated T-lymphoblasts, endothelial cells and activated platelets. Isoform 5 is expressed in placenta. Isoform 1 is expressed in keratinocytes and placenta. PTM: N-glycosylated. PTM: 2 forms of 150 (p150) and 120 kDa (p120) exist due to proteolytic degradation from a 180 kDa form. POLYMORPHISM: The Gov(b) variant in position 703 defines the Gov alloantigenic determinants. SIMILARITY: Belongs to the protease inhibitor I39 (alpha-2- macroglobulin) family. SEQUENCE CAUTION: Sequence=BAG53987.1; Type=Erroneous initiation; Sequence=CAE46045.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAE46045.1; Type=Frameshift; Positions=1282;
Genetic Association Studies of Complex Diseases and Disorders
Blood Pressure Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
Blood Proteins Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
Body Weight Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6YHK3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.