| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
Disintegrin and metalloproteinase domain-containing protein 15 is an enzyme that in humans is encoded by the ADAM15 gene.
WW domain-containing oxidoreductase is an enzyme that in humans is encoded by the WWOX gene.
Calcium and integrin-binding protein 1 is a protein that in humans is encoded by the CIB1 gene and is located in Chromosome 15. The protein encoded by this gene is a member of the calcium-binding protein family. The specific function of this protein has not yet been determined; however this protein is known to interact with DNA-dependent protein kinase and may play a role in kinase-phosphatase regulation of DNA end-joining. This protein also interacts with integrin alpha(IIb)beta(3), which may implicate this protein as a regulatory molecule for alpha(IIb)beta(3).
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.
Cystatin-M is a protein that in humans is encoded by the CST6 gene.
Breast cancer metastasis suppressor 1 is a protein that in humans is encoded by the BRMS1 gene.
Protein atonal homolog 1 is a protein that in humans is encoded by the ATOH1 gene.
LIM domain transcription factor LMO4 is a protein that in humans is encoded by the LMO4 gene.
Cadherin-17 is a protein that in humans is encoded by the CDH17 gene.
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Receptor-type tyrosine-protein phosphatase T is an enzyme that in humans is encoded by the PTPRT gene.
Protein CIP2A also known as cancerous inhibitor of PP2A (CIP2A) is a protein that in humans is encoded by the KIAA1524 gene.
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.
CKLF-like MARVEL transmembrane domain-containing protein 2, previously termed chemokine-like factor superfamily 2, is a member of the CKLF-like MARVEL transmembrane domain-containing family (CMTM) of proteins. In humans, it is encoded by the CMTM2 gene located in band 22 on the long arm of chromosome 16. CMTM2 protein is expressed in the bone marrow and various circulating blood cells. It is also highly expressed in testicular tissues: The CMTM2 gene and CMTM2 protein, it is suggested, may play an important role in testicular development.
Transmembrane protein 158 is a protein that in humans is encoded by the TMEM158 gene.
CUB and sushi domain-containing protein 2 is a protein that in humans is encoded by the CSMD2 gene.
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Iroquois-class homeodomain protein IRX-1, also known as Iroquois homeobox protein 1, is a protein that in humans is encoded by the IRX1 gene. All members of the Iroquois (IRO) family of proteins share two highly conserved features, encoding both a homeodomain and a characteristic IRO sequence motif. Members of this family are known to play numerous roles in early embryo patterning. IRX1 has also been shown to act as a tumor suppressor gene in several forms of cancer.
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.
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