| CSMD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CSMD1 , PPP1R24, CUB and Sushi multiple domains 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608397; MGI: 2137383; HomoloGene: 69536; GeneCards: CSMD1; OMA:CSMD1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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CSMD1 CUB and Sushi multiple domains 1 is a protein that in humans is encoded by the CSMD1 gene. [5]
CSMD1 contains 14 N-terminal CUB domains that are separated from each other by a Sushi domains followed by an additional 15 tandem Sushi domain segment. [6]
Based on analogy to other proteins that contain Sushi domains, it is believed that the gene product of CSMD1 functions as a Complement control protein. [6]
It is a potential tumour suppressor, the deletion of which may result in head and neck carcinomas behaving more aggressively. [7] CSMD1 protein expression was found to be reduced in patients with invasive breast cancer. [8] Functional studies showed that CSMD1 reduction causes cells to transform to a cancer form by increasing their ability to divide, migrate and invade. In a three dimensional model of breast ducts, reduced CSMD1 expression failed breast duct formation. [9]
Certain CSMD1 genetic variants have been found to show an association with risk of developing schizophrenia, consistent with emerging evidence that some forms of schizophrenia may result from dysregulated complement activation in the central nervous system resulting in excessive synaptic pruning. [10]
Phosphatase and tensin homolog (PTEN) is a phosphatase in humans and is encoded by the PTEN gene. Mutations of this gene are a step in the development of many cancers, specifically glioblastoma, lung cancer, breast cancer, and prostate cancer. Genes corresponding to PTEN (orthologs) have been identified in most mammals for which complete genome data are available.
Disintegrin and metalloproteinase domain-containing protein 15 is an enzyme that in humans is encoded by the ADAM15 gene.
Cluster of differentiation 97 is a protein also known as BL-Ac[F2] encoded by the ADGRE5 gene. CD97 is a member of the adhesion G protein-coupled receptor (GPCR) family. Adhesion GPCRs are characterized by an extended extracellular region often possessing N-terminal protein modules that is linked to a TM7 region via a domain known as the GPCR-Autoproteolysis INducing (GAIN) domain.
Carcinoembryonic antigen-related cell adhesion molecule 1 (CEACAM1) also known as CD66a, is a human glycoprotein, and a member of the carcinoembryonic antigen (CEA) gene family.
WW domain-containing oxidoreductase is an enzyme that in humans is encoded by the WWOX gene.
Cell adhesion molecule 1 is a protein that, in humans, is encoded by the CADM1 gene.
Secreted frizzled-related protein 1, also known as SFRP1, is a protein which in humans is encoded by the SFRP1 gene.
Programmed cell death protein 4 is a protein that in humans is encoded by the PDCD4 gene. It is one of the targets of an oncomiR, MIRN21.
RNA-binding protein 5 is a protein that in humans is encoded by the RBM5 gene.
ID4 is a protein coding gene. In humans, it encodes the protein known as DNA-binding protein inhibitor ID-4. This protein is known to be involved in the regulation of many cellular processes during both prenatal development and tumorigenesis. This is inclusive of embryonic cellular growth, senescence, cellular differentiation, apoptosis, and as an oncogene in angiogenesis.
Reversion-inducing-cysteine-rich protein with kazal motifs, also known as RECK, is a human gene, thought to be a metastasis suppressor.
Breast cancer metastasis suppressor 1 is a protein that in humans is encoded by the BRMS1 gene.
AT-rich interactive domain-containing protein 2 (ARID2) is a protein that in humans is encoded by the ARID2 gene.
Angio-associated, migratory cell protein, also known as AAMP, is a protein which in humans is encoded by the AAMP gene. This protein has been conserved in evolution and is so common to many mammals. and it also has a yeast homolog which is the protein YCR072c.
StAR-related lipid transfer domain protein 13 (STARD13) also known as deleted in liver cancer 2 protein (DLC-2) is a protein that in humans is encoded by the STARD13 gene and a member of the DLC family of proteins.
Cadherin-1 or Epithelial cadherin(E-cadherin), is a protein that in humans is encoded by the CDH1 gene. Mutations are correlated with gastric, breast, colorectal, thyroid, and ovarian cancers. CDH1 has also been designated as CD324. It is a tumor suppressor gene.
WAP four-disulfide core domain protein 1 is a protein that in humans is encoded by the WFDC1 gene.
CUB and sushi domain-containing protein 2 is a protein that in humans is encoded by the CSMD2 gene.
GTP-binding protein Di-Ras3 (DIRAS3) also known as aplysia ras homology member I (ARHI) is a protein that in humans is encoded by the DIRAS3 gene.
Calcium channel, voltage-dependent, alpha 2/delta subunit 3 is a protein that in humans is encoded by the CACNA2D3 gene on chromosome 3 .
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