Редактирование: CSMD1

CUB and sushi domain-containing protein 1 precursor (CUB and sushi multiple domains protein 1) [KIAA1890] [UNQ5952/PRO19863]

==Publications==

{{medline-entry
|title=Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22367537
|abstract=Neuroblastoma is a childhood tumour of the peripheral sympathetic nervous system. The pathogenesis has for a long time been quite enigmatic, as only very few gene defects were identified in this often lethal tumour. Frequently detected gene alterations are limited to [[MYCN]] amplification (20%) and [[ALK]] activations (7%). Here we present a whole-genome sequence analysis of 87 neuroblastoma of all stages. Few recurrent amino-acid-changing mutations were found. In contrast, analysis of structural defects identified a local shredding of chromosomes, known as chromothripsis, in 18% of high-stage neuroblastoma. These tumours are associated with a poor outcome. Structural alterations recurrently affected ODZ3, [[PTPRD]] and [[CSMD1]], which are involved in neuronal growth cone stabilization. In addition, [[ATRX]], [[TIAM1]] and a series of regulators of the Rac/Rho pathway were mutated, further implicating defects in neuritogenesis in neuroblastoma. Most tumours with defects in these genes were aggressive high-stage neuroblastomas, but did not carry [[MYCN]] amplifications. The genomic landscape of neuroblastoma therefore reveals two novel molecular defects, chromothripsis and neuritogenesis gene alterations, which frequently occur in high-risk tumours.
|mesh-terms=* Aging
* Chromosomes, Human
* Cluster Analysis
* DNA Helicases
* DNA Mutational Analysis
* Gene Expression Regulation, Neoplastic
* Genome, Human
* Growth Cones
* Guanine Nucleotide Exchange Factors
* Humans
* Mutation
* Neoplasm Staging
* Neurites
* Neuroblastoma
* Nuclear Proteins
* Prognosis
* T-Lymphoma Invasion and Metastasis-inducing Protein 1
* X-linked Nuclear Protein
* rac GTP-Binding Proteins
* rho GTP-Binding Proteins

|full-text-url=https://sci-hub.do/10.1038/nature10910
}}
{{medline-entry
|title=[[CSMD1]] is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/16547280
|abstract=In this study, we describe the identification and in vitro functional activity of a novel multiple domain complement regulatory protein discovered based on its homology to short consensus repeat (SCR)-containing proteins of the regulators of complement activation (RCA) gene family. The rat cDNA encodes a predicted 388-kDa protein consisting of 14 N-terminal CUB domains that are separated from each other by a SCR followed by 15 tandem SCR domains, a transmembrane domain, and a short cytoplasmic tail. This protein is the homolog of the human protein of unknown function called the CUB and sushi multiple domains 1 ([[CSMD1]]) protein. A cloning strategy that incorporates the two C-terminal CUB-SCR domains and 12 of the tandem SCR repeats was used to produce a soluble rat [[CSMD1]] protein. This protein blocked classical complement pathway activation in a comparable fashion with rat Crry but did not block alternative pathway activation. Analysis of [[CSMD1]] mRNA expression by in situ hybridization and immunolabeling of neurons indicates that the primary sites of synthesis are the developing CNS and epithelial tissues. Of particular significance is the enrichment of [[CSMD1]] in the nerve growth cone, the amoeboid-leading edge of the growing neuron. These results suggest that [[CSMD1]] may be an important regulator of complement activation and inflammation in the developing CNS, and that it may also play a role in the context of growth cone function.
|mesh-terms=* Aging
* Animals
* Cell Line
* Central Nervous System
* Cloning, Molecular
* Complement Pathway, Classical
* Epithelium
* Erythrocytes
* Female
* Gene Expression Regulation
* Growth Cones
* Hemolysis
* Humans
* In Situ Hybridization
* Male
* Membrane Proteins
* Organ Specificity
* RNA, Messenger
* Rats
* Sheep
* Solubility

|full-text-url=https://sci-hub.do/10.4049/jimmunol.176.7.4419
}}