Growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae), also known as GFER, or Hepatopoietin 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 ...
which in humans is encoded by the ''GFER''
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 ...
. This gene is also known as essential for respiration and vegatative growth, augmenter of liver regeneration, and growth factor of Erv1-like/Hepatic regenerative stimulation substance.
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Structure
The ''GFER'' gene is located on the
p arm of
chromosome 16
Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cel ...
at position 13.3 and it spans 3,600 base pairs.
The ''GFER'' gene produces a 15.4 kDa protein composed of 130
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 ...
.
[
] The structure of the protein is a
homodimer
In biochemistry, a protein dimer is a macromolecular complex or protein multimer, multimer formed by two protein monomers, or single proteins, which are usually Non-covalent interaction, non-covalently bound. Many macromolecules, such as proteins ...
which has been found to be fairly similar to the
scERV1 protein of yeast.
Genomics
The gene resides on chromosome 16 in the interval containing the locus for
polycystic kidney disease
Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These ...
(PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast.
Function
The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The yeast scERV1 gene had been found to be essential for
oxidative phosphorylation
Oxidative phosphorylation(UK , US : or electron transport-linked phosphorylation or terminal oxidation, is the metabolic pathway in which Cell (biology), cells use enzymes to Redox, oxidize nutrients, thereby releasing chemical energy in order ...
, the maintenance of mitochondrial genomes, and the
cell division cycle
The cell cycle, or cell-division cycle, is the sequential series of events that take place in a cell that causes it to divide into two daughter cells. These events include the growth of the cell, duplication of its DNA (DNA replication) and ...
. The human gene is both the structural and functional homolog of the yeast scERV1 gene.
Clinical significance
Mutations in ''GFER'' has been shown to result in
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD). MPMCHD is a disease characterized by progressive
myopathy
In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. ''Myopathy'' means muscle disease ( Greek : myo- ''muscle'' + patheia '' -pathy'' : ''suffering''). This meaning implies that the primary defec ...
and partial combined respiratory-chain deficiency, congenital
cataract
A cataract is a cloudy area in the lens (anatomy), lens of the eye that leads to a visual impairment, decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or ...
,
sensorineural hearing loss
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear, sensory organ (cochlea and associated structures), or the vestibulocochlear nerve (Cranial nerves, cranial nerve VIII). SNHL accounts for a ...
, and
developmental delay
The term developmental delay can refer to:
*Global developmental delay, an umbrella term used when children are significantly delayed in two or more areas of development
*Specific developmental disorder, a classification of disorders characterize ...
.
Interactions
GFER has been shown to
interact with
COP9 constitutive photomorphogenic homolog subunit 5
COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis), also known as COPS5 or Csn5, is a gene conserved from humans to Saccharomyces cerevisiae.
Function
The protein encoded by this gene is one of the eight subunits of COP9 sign ...
and
BNIPL.
References
Further reading
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