CAPN1-T1: A Missense Variant Involved in Muscle Contractions Regulation

Target Name: CAPN1

NCBI ID: G823

CAPN1

CAPN1-T1: A Missense Variant Involved in Muscle Contractions Regulation

CAPN1, also known as Calpain 1, is a protein that is expressed in various tissues throughout the body, including the brain, heart, and kidneys. It is a large subunit of the mu/I transition protein, which is a type of protein that is involved in the regulation of muscle contractions.

Transcript variants of CAPN1 have been identified, which are variations in the way the gene is transcribed into RNA. These variants can result in changes in the structure and function of the protein. One of the most interesting variants of CAPN1 is the transcript variant 1, which is often referred to as CAPN1-T1.

CAPN1 is a protein that is known to play a role in the regulation of muscle contractions. It is a subunit of the mu/I transition protein, which is a type of protein that is involved in the regulation of muscle contractions. The mu/I transition protein is composed of two subunits, mu and I, which are responsible for the regulation of muscle contractions.

CAPN1 is expressed in various tissues throughout the body, including the brain, heart, and kidneys. It is a large subunit of the mu/I transition protein, which is a type of protein that is involved in the regulation of muscle contractions. The mu/I transition protein is composed of two subunits, mu and I, which are responsible for the regulation of muscle contractions.

Transcript variants of CAPN1 have been identified, which are variations in the way the gene is transcribed into RNA. These variants can result in changes in the structure and function of the protein. One of the most interesting variants of CAPN1 is the transcript variant 1, which is often referred to as CAPN1-T1.

The CAPN1-T1 variant is a missense variant, which means that it results in a change in the amino acid sequence of the protein. Specifically, the substitution of Asp for Asn at position 124 in the mu/I transition protein results in the formation of an Asp-Glu-Asn-Glu sequence. This change in the amino acid sequence can affect the structure and function of the protein.

CAPN1-T1 has been shown to play a role in the regulation of muscle contractions. Studies have shown that the CAPN1-T1 variant is involved in the regulation of muscle force production and that it is required for the proper function of the mu/I transition protein.

In addition to its role in the regulation of muscle contractions, CAPN1 is also involved in the regulation of other physiological processes in the body. For example, it is involved in the regulation of blood pressure and has been shown to play a role in the regulation of blood flow to the brain.

Given the potential role of CAPN1 in the regulation of muscle contractions and other physiological processes, it is a promising drug target. Studies are being conducted to determine the effectiveness of CAPN1-T1 as a drug and to understand its underlying mechanisms.

In conclusion, CAPN1 is a protein that is known to play a role in the regulation of muscle contractions. The CAPN1-T1 variant is a missense variant that can result in changes in the structure and function of the protein. Studies have shown that the CAPN1-T1 variant is involved in the regulation of muscle force production and is required for the proper function of the mu/I transition protein. Given its potential role in the regulation of muscle contractions and other physiological processes, CAPN1-T1 is a promising drug target.

Protein Name: Calpain 1

Functions: Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction (PubMed:19617626, PubMed:21531719, PubMed:2400579). Proteolytically cleaves CTBP1 at 'Asn-375', 'Gly-387' and 'His-409' (PubMed:23707407). Cleaves and activates caspase-7 (CASP7) (PubMed:19617626)

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