What is the amino acid sequence of CFTR?

1480 amino acids
6.1 Structure of CFTR protein The protein sequence of the CFTR is composed of 1480 amino acids. It consists of two repeated motifs each composed of a hydrophilic membrane-spanning domain (MSD) containing six helices and an important hydrophilic region for binding with ATP (NBF or Nucleotide Binding fold).

What is the DNA sequence for cystic fibrosis?

Abstract. The gene responsible for cystic fibrosis, the most common severe autosomal recessive disorder, is located on the long arm of human chromosome 7, region q31-q32. The gene has recently been identified and shown to be approximately 250 kb in size.

What is the pathway of a CFTR protein?

Being a membrane protein, CFTR follows the general route of the secre- tory pathway, i.e. through the Golgi, to reach the plasma membrane (PM).

How many amino acids are in CFTR?

Protein Processing Mutations The CFTR protein is made up of 1,480 amino acids.

What is the R domain in CFTR?

CFTR is novel in the ATP-binding cassette superfamily as an ion channel that is enabled by a unique unstructured regulatory domain. This R domain contains multiple protein kinase A sites, which when phosphorylated allow channel gating.

What is CFTR mRNA?

Normal Function Collapse Section. The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.

How many base pairs is CFTR?

approximately 189,000 base pairs
Structure. The CFTR gene resides on the long arm of human chromosome 7 and encompasses approximately 189,000 base pairs of DNA. The coding portion of the gene is divided into 27 exons that are transcribed into a messenger RNA (mRNA) of approximately 6500 base pairs.

Where is the CFTR protein synthesized?

Like most polytopic membrane proteins, CFTR biogenesis occurs at the ER, and requires coordinated folding of individual domains in three distinct cellular compartments: the ER membrane, the ER lumen, and the cytosol.

What is the CFTR protein and what is its function?

It is located on human chromosome 7 and consists of twenty-seven sequences of DNA that encode 1,480 amino acids. The CFTR gene produces the CFTR protein, which regulates the chloride ion content of epithelial cells that line the nasal cavity, lungs, and stomach.

How many nucleotides make up the CFTR gene?

It is now well established that the full-length CFTR mRNA contains 6128 nucleotides.

What does the CFTR gene encode?

The CFTR gene encodes a protein in cell membranes in epithelial tissues and affects multiple organ systems in the human body. Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content.

What happens to the R domain to allow CFTR?

For a cystic fibrosis transmembrane conductance regulator (CFTR) channel to enter its open state, serine residues in the R domain must be phosphorylated by cAMP-dependent protein kinase, and intracellular ATP must bind to the nucleotide-binding folds and subsequently be hydrolyzed.

How is the CFTR channel activated?

CFTR is a chloride channel expressed in the apical membrane of epithelia. It is activated by cAMP dependent phosphorylation and gated by the binding of ATP. The impaired chloride transport of some types of cystic fibrosis mutations could be pharmacologically solved by the use of chemical compounds called potentiators.

What chromosome is CFTR gene on?

Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a global understanding of the population molecular genetics associated …

How many nucleotides is the CFTR gene?

How many exons make up the CFTR gene?

CFTR gene is localized on the long arm of chromosome 7 (7q21-34), spanning approximately 190 kb of genomic DNA. The gene consists of 27 exons and encodes a mature mRNA transcript of 6.5 kb that is translated into a 1480 amino acid protein (3).

How is a CFTR protein made?

The CFTR protein contains a single chain of amino acids that are grouped in five functional regions called domains. Two transmembrane domains (TMD1 and TMD2), two cytoplasmic nucleotide-binding domains (NBD1 and NBD2) and a regulatory (R) domain make up the CFTR protein.

How is CFTR synthesized?

CFTR PROTEIN SYNTHESIS Here, in combination with transfer RNA, the CFTR gene is translated into nascent chains of amino acids [9, 16]. The resulting polypeptides are assembled into the immature CFTR protein product, which is subsequently folded within the lipid bilayer of the endoplasmic reticulum [18].

What does the CFTR gene produce?

Normal Function The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.

How many amino acids are in the CFTR gene?

It is located on human chromosome 7 and consists of twenty-seven sequences of DNA that encode 1,480 amino acids. The CFTR gene produces the CFTR protein, which regulates the chloride ion content of epithelial cells that line the nasal cavity, lungs, and stomach.

What is the function of the CFTR protein chain?

The DNA instructions tell the cell which amino acid to use at each position in the chain to make a specific protein. The CFTR proteinis made up of 1,480 amino acids. Once the CFTR protein chain is made, it is folded into a specific 3-D shape.

What is a CFTR mutation?

Search Search Types of CFTR Mutations Some genetic diseases, such as cystic fibrosis, are caused by mutations in a single gene. A gene contains DNA “letters” that spell out the instructions to make a specific protein. When the protein isn’t made correctly, it can lead to a cascade of problems. 9 min read In this article Summary

What is the CFTR channel made of?

CFTR Channel. The CFTR protein is composed of 1,480 amino acids—the building blocks of all proteins—and is located on the surface of many cells in the body. The CFTR protein contains a single chain of amino acids that are grouped in five functional regions called domains.