Nitrogen permease regulator-like 3 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the NPRL3
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
NPRL3 is a human
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
of poorly understood function
but has been associated with
cancer
Cancer is a group of diseases involving Cell growth#Disorders, abnormal cell growth with the potential to Invasion (cancer), invade or Metastasis, spread to other parts of the body. These contrast with benign tumors, which do not spread. Po ...
.
The most prominent function ascribed to Nprl3 to date is as part of the GATOR1 complex (with
NPRL2 and
DEPDC5) that inhibits the
mechanistic target of rapamycin (mTOR) kinase-complex-1 (
mTORC1
mTORC1, also known as mammalian target of rapamycin complex 1 or mechanistic target of rapamycin complex 1, is a protein complex that functions as a nutrient/energy/redox sensor and controls protein synthesis.
mTOR Complex 1 (mTORC1) is comp ...
) on the surface of the
lysosome
A lysosome () is a membrane-bound organelle that is found in all mammalian cells, with the exception of red blood cells (erythrocytes). There are normally hundreds of lysosomes in the cytosol, where they function as the cell’s degradation cent ...
(equivalent of degradative
vacuole
A vacuole () is a membrane-bound organelle which is present in Plant cell, plant and Fungus, fungal Cell (biology), cells and some protist, animal, and bacterial cells. Vacuoles are essentially enclosed compartments which are filled with water ...
in yeast) via an effect on the
Rag GTPase complex. Additionally, Nprl3 has been shown to adjust cell metabolism via the TOR pathway, and this is important for development of the cardiovascular system in mammals.
Without this effect, spontaneous cell apoptosis would occur. A similar function for Nprl3 has been identified in the female reproductive system of ''Drosophila'' during times of protein scarcity.
Gene
In ''
Homo sapiens
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
'', the NPRL3 gene is located at C16orf35. The gene is composed of 14 exons at 53 kbp in length.
This gene is highly conserved in vertebrates
which is upstream from the
alpha globin gene cluster. Within the fifth intron of the gene there is a regulatory section of DNA
HS-40 which regulates the expression of the alpha globin. This means that the gene C16orf35 is expressed in early
erythrocytes
Red blood cells (RBCs), referred to as erythrocytes (, with -''cyte'' translated as 'cell' in modern usage) in academia and medical publishing, also known as red cells, erythroid cells, and rarely haematids, are the most common type of blood cel ...
accompanying hemoglobin production.
Structure
The human nitrogen permease regulator-like 3 protein has 569
amino acids
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the Proteinogenic amino acid, 22 α-amino acids incorporated into p ...
.
Domains
There is a predicted N-terminal longin
domain within the Nprl3 protein (amino acids 4–168). At the C terminus, there are three consecutive winged
helix turn helix (HTH) domains.
These regions are predicted bind to another macromolecule, which could be DNA, RNA or protein.
References
{{gene-16-stub