POMT1

What is POMT1 Protein?

POMT1 is a protein that acts as a glycosyltransferase, which means it helps add sugars to other proteins. This function is crucial for dystroglycan, a protein essential in muscle and brain tissues for maintaining cell structure and communication. When the POMT1 gene has mutations, it can lead to disorders like muscular dystrophies and Walker-Warburg syndrome. By ensuring proteins are properly glycosylated, POMT1 supports healthy cell function and development.

What is the Function of POMT1 Protein?

POMT1 protein's main role is to add sugar molecules to proteins, a process known as glycosylation. This is particularly important for dystroglycan, a protein involved in cell stability and communication, especially in muscle and brain tissues. Proper glycosylation by POMT1 helps dystroglycan maintain its function in interacting with the cell's environment. If POMT1 can't perform its job correctly due to genetic mutations, it can lead to issues like muscular dystrophies, affecting muscle integrity and brain development.

POMT1 Related Signaling Pathway

POMT1 is part of a vital signaling pathway that involves glycosylation of dystroglycan, impacting how cells interact with their surroundings. Proper glycosylation enables dystroglycan to bind with extracellular matrix components, which is essential for cell structure and signaling functions in muscle and nerve cells. Disruptions in this pathway, due to faulty POMT1, can lead to breakdowns in cellular connections and signaling, which are crucial for maintaining muscle integrity and normal brain function. This pathway's integrity is therefore critical in preventing disorders like muscular dystrophies.

POMT1 Related Diseases

POMT1 is linked to diseases like muscular dystrophies, with Walker-Warburg syndrome being one of the most severe. These conditions arise from defects in glycosylation, which impact the function of dystroglycan, a protein essential for muscle stability and brain development. Mutations in the POMT1 gene disrupt normal cell interactions, leading to symptoms like muscle weakness and developmental issues in the brain and eyes. Understanding POMT1's role helps in diagnosing and potentially treating these genetic disorders.

Bioapplications of POMT1

POMT1 (Protein O-Mannosyltransferase 1) is a key enzyme with a crucial role in the process of glycosylation, which is the attachment of sugars to proteins. This process is vital for proper muscle function and structure. POMT1 is known for its significance in muscular disorders, particularly those like congenital muscular dystrophies. These disorders affect muscle tone and stability, and studying POMT1 helps researchers understand these conditions better. By targeting POMT1, scientists hope to develop therapeutic strategies that could help manage or treat such neuromuscular diseases. Its role in cellular processes and the structural integrity of muscle fibers makes it an important focus in medical research.

Case Study 1: Karas BF. et al. Hum Mol Genet. 2024

Mutations in POMT1 are a major cause of severe congenital muscular dystrophies, called dystroglycanopathies. POMT1 helps attach glycans to dystroglycan, a protein involved in cell-ECM interactions. When these interactions break down, it leads to developmental issues in the brain and eyes, along with CMD. In mice, removing Pomt1 causes early death due to its role in placental formation. In zebrafish, lacking pomt1 showed similar developmental problems seen in humans. Maternal pomt1 mRNA helps early development, but muscle and eye issues appear without it in knock-out embryos from knock-out mothers. For heterozygous mothers, their pomt1 supports normal development, except for photoreceptor problems later on.

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  Fig1. Pomt1 is completely absent on Western blot in 30 dpf protein lysates from KOHet fish.
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  Fig2. Residual Pomt1 is present in 5 dpf KOHet larvae derived from Het X Het crosses, as is α-DG glycosylation.

Case Study 2: Prados B. et al. Am J Pathol. 2007

Walker-Warburg syndrome (WWS) is a serious congenital disorder linked to faulty O-glycosylation of alpha-dystroglycan, leading to muscular dystrophy, and eye and brain issues. In many cases, mutations in the POMT1 gene cause WWS. During early development, the Pomt1 gene is active in mouse tissues most affected by WWS, like muscle, eye, and brain. Later on, it continues in muscle and eye, with strong expression in brain regions linked to WWS defects. In adult mice, Pomt1 is found in muscle cell areas where alpha-dystroglycan gets its glycosylation, and also in spermatids in testes, suggesting a different target there. This might explain the gonadal issues seen in some WWS patients.

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  Fig3. Microsomal protein extracts (50 μg) probed with anti-POMT1 antibodies.
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  Fig4. Pomt1 was expressed more weakly in spermatogonia.

POMT1 has several biochemical functions, for example, contributes_to dolichyl-phosphate-mannose-protein mannosyltransferase activity,mannosyltransferase activity,metal ion binding. Some of the functions are cooperated with other proteins, some of the functions could acted by POMT1 itself. We selected most functions POMT1 had, and list some proteins which have the same functions with POMT1. You can find most of the proteins on our site.

Function	Related Protein
contributes_to dolichyl-phosphate-mannose-protein mannosyltransferase activity	SDF2L1,POMT2
mannosyltransferase activity	ALG12,ALG9,DPY19L3,B3GNTL1,DPY19L1,PIGZ,4931440L10Rik,DPY19L4,POC1BL,GTDC2
metal ion binding	POLL,NDUFV1,CDKN1A,RNF169,XIRP2,GRIN2A,SLC2A4RG,OAS2,GM9524,PLCH2

POMT1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with POMT1 here. Most of them are supplied by our site. Hope this information will be useful for your research of POMT1.

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