MOSPD1 Human
Description
Introduction to MOSPD1 Human
MOSPD1, or Motile Sperm Domain Containing 1, is a protein encoded by the MOSPD1 gene in humans. It is located on chromosome X and plays a significant role in various cellular processes, including the regulation of transcription and cell differentiation. This article will delve into the details of MOSPD1, its functions, and recent research findings.
Gene Location and Structure
MOSPD1 is encoded by the gene with the same name, located on chromosome X in humans. The genomic sequence is available in several assemblies, including NC_000023.11 for the GRCh38.p14 primary assembly and NC_000023.10 for the GRCh37.p13 primary assembly .
Functions of MOSPD1
MOSPD1 is involved in several cellular processes:
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Transcription Regulation: It is predicted to be involved in both the negative and positive regulation of transcription by RNA polymerase II .
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Cell Differentiation: MOSPD1 plays a role in the differentiation and proliferation of mesenchymal stem cells and is proposed to be involved in epithelial-to-mesenchymal transition (EMT) .
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Membrane Contact Sites: Although not directly associated with MOSPD1, proteins like MOSPD2, MOSPD3, and VAPs form membrane contact sites (MCS) that facilitate interactions between organelles .
Research Findings
Recent studies have highlighted MOSPD1's potential as a marker for early-stage human embryos and its regulation by the Wnt/β-catenin pathway .
Table 1: Key Functions and Associations of MOSPD1
References
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NCBI Gene Database: MOSPD1 motile sperm domain containing 1 [Homo sapiens (human)] .
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Human VAPome Analysis: Reveals MOSPD1 and MOSPD3 as membrane contact site proteins interacting with FFAT-related FFNT motifs .
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UniProt Database: MOSPD1 - Motile sperm domain-containing protein 1 .
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NCBI Gene Database: MOSPD1 motile sperm domain containing 1 [Homo sapiens (human)] .
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UniProt Publications: Results from a study on gene expression variability markers in early-stage human embryos .
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Research Article: Motile sperm domain containing 1 is upregulated by the Wnt/β-catenin pathway .
Product Specs
Product Science Overview
The MOSPD1 gene is located on the X chromosome at the Xq26.3 band . The gene spans approximately 27,625 base pairs and is composed of multiple exons and introns. The protein encoded by this gene contains a motile sperm domain, which is a conserved region found in several proteins involved in cellular motility and signaling .
MOSPD1 plays a crucial role in the differentiation and proliferation of mesenchymal stem cells . It has been proposed to be involved in the EMT process, which is a critical event in the development and progression of various diseases, including cancer . However, some studies suggest that MOSPD1 may not be essential for EMT or stem cell self-renewal but may act during later stages of differentiation .
The expression of MOSPD1 is observed in various tissues, including the stromal cells of the endometrium, right uterine tube, secondary oocyte, right ventricle, retinal pigment epithelium, caput epididymis, oral cavity, bone marrow, hair follicle, and left adrenal gland . The protein is predicted to be located in the nucleus and perinuclear region of the cytoplasm, and it is active in the cytoplasm .
Mutations or dysregulation of the MOSPD1 gene have been associated with certain diseases, including Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) . Understanding the function and regulation of MOSPD1 could provide insights into the mechanisms underlying these diseases and potentially lead to the development of therapeutic strategies.
Several studies have investigated the role of MOSPD1 in cellular processes and disease. For example, research has shown that MOSPD1 interacts with FFAT-related FFNT motifs, which are involved in membrane contact site formation . Additionally, studies have explored the potential of MOSPD1 as a target for therapeutic interventions in diseases such as ALS and FTD .
In conclusion, MOSPD1 is a protein with significant roles in cellular differentiation, proliferation, and potentially in disease processes. Further research is needed to fully understand its functions and therapeutic potential.
