C3orf14-Chromosome 3 open reading frame 14
Encyclopedia
The human gene Chromosome 3 open reading frame
14 is a gene of uncertain function located at 3p14.2 near fragile site FRBA3—which falls between this gene and the centromere
. Its protein is expected to localize to the nucleus and bind DNA. Orthologs have been identified in all of the major animal groups, minus amphibians and insects, tracing as far back as the sea anemone
; indicating an origin of over 1000 mya, highlighting its importance in the animal genome
.
The mRNA is composed of 6 exons, and encodes a 15007.84 kD protein known as HT021. This protein has a pre-modification isoelectric point
of 5.57 and alpha helices span most of its length. Four sites of possible phosphorylation
have been identified, and at least two sites of phosphorylation are conserved in all orthologs, as are two alpha helices. This protein is also predicted as a DNA binding protein. The protein may assume a tertiary structure
of a coiled coil
.
and invertebrates. Transcript have not been identified in amphibians or insects; however only model organisms have been sequenced from these groups. Very recently the first ortholog in reptiles was identified in Anolis carolinensis. The amino acid structure is highly conserved through mammals, and the secondary and tertiary structure is highly conserved in all orthologs, dating as far back as 1000 mya in the sea anemone. No orthologs have been found in plants or bacteria. Below is a phylogenetic tree
generated in SDSC Biology Workbench showing protein similarity among species in which C3orf14 has been identified.
(HPA axis). The GEO and EST profiles in NCBI, indicate that its expression level varies from tissue to tissue; however its reported expression is 1.2 times that of the average gene. It has highest expression in the pancreas and nervous tissue (in humans). It is underexpressed in many cancer cell lines, however this may be due to its close proximity to the tumor suppressor gene
FHIT
, and the chromosomal fragile site FRBA3. Breakage at this site inactivates FHIT and can lead to the loss of C3orf14.
. Instead, it more likely plays a role in the function of specific tissues. It seems likely then, that this gene is a transcription factor
, which regulates the expression of other genes important for the function of tissues where this gene is expressed highest.
Open reading frame
In molecular genetics, an open reading frame is a DNA sequence that does not contain a stop codon in a given reading frame.Normally, inserts which interrupt the reading frame of a subsequent region after the start codon cause frameshift mutation of the sequence and dislocate the sequences for stop...
14 is a gene of uncertain function located at 3p14.2 near fragile site FRBA3—which falls between this gene and the centromere
Centromere
A centromere is a region of DNA typically found near the middle of a chromosome where two identical sister chromatids come closest in contact. It is involved in cell division as the point of mitotic spindle attachment...
. Its protein is expected to localize to the nucleus and bind DNA. Orthologs have been identified in all of the major animal groups, minus amphibians and insects, tracing as far back as the sea anemone
Sea anemone
Sea anemones are a group of water-dwelling, predatory animals of the order Actiniaria; they are named after the anemone, a terrestrial flower. Sea anemones are classified in the phylum Cnidaria, class Anthozoa, subclass Zoantharia. Anthozoa often have large polyps that allow for digestion of larger...
; indicating an origin of over 1000 mya, highlighting its importance in the animal genome
Genome
In modern molecular biology and genetics, the genome is the entirety of an organism's hereditary information. It is encoded either in DNA or, for many types of virus, in RNA. The genome includes both the genes and the non-coding sequences of the DNA/RNA....
.
Gene Aliases
C3orf14 is also known by the aliases LOC57415, FLJ94553 and FLJ17473. Gene orthologs found in other organisms are usually know by the name c3orf14-like, though some are known as LOC57415-like or HT021-like (protein name).Protein Properties
Isoelectric point
The isoelectric point , sometimes abbreviated to IEP, is the pH at which a particular molecule or surface carries no net electrical charge....
of 5.57 and alpha helices span most of its length. Four sites of possible phosphorylation
Phosphorylation
Phosphorylation is the addition of a phosphate group to a protein or other organic molecule. Phosphorylation activates or deactivates many protein enzymes....
have been identified, and at least two sites of phosphorylation are conserved in all orthologs, as are two alpha helices. This protein is also predicted as a DNA binding protein. The protein may assume a tertiary structure
Tertiary structure
In biochemistry and molecular biology, the tertiary structure of a protein or any other macromolecule is its three-dimensional structure, as defined by the atomic coordinates.-Relationship to primary structure:...
of a coiled coil
Coiled coil
A coiled coil is a structural motif in proteins, in which 2-7 alpha-helices are coiled together like the strands of a rope . Many coiled coil type proteins are involved in important biological functions such as the regulation of gene expression e.g. transcription factors...
.
Homology
Orthologs of this gene has been identified in most animal groups: mammals, monotremes, aves, reptiles, fishFish
Fish are a paraphyletic group of organisms that consist of all gill-bearing aquatic vertebrate animals that lack limbs with digits. Included in this definition are the living hagfish, lampreys, and cartilaginous and bony fish, as well as various extinct related groups...
and invertebrates. Transcript have not been identified in amphibians or insects; however only model organisms have been sequenced from these groups. Very recently the first ortholog in reptiles was identified in Anolis carolinensis. The amino acid structure is highly conserved through mammals, and the secondary and tertiary structure is highly conserved in all orthologs, dating as far back as 1000 mya in the sea anemone. No orthologs have been found in plants or bacteria. Below is a phylogenetic tree
Phylogenetic tree
A phylogenetic tree or evolutionary tree is a branching diagram or "tree" showing the inferred evolutionary relationships among various biological species or other entities based upon similarities and differences in their physical and/or genetic characteristics...
generated in SDSC Biology Workbench showing protein similarity among species in which C3orf14 has been identified.
Expression
This gene was first identified in the hypothalamic-pituitary-adrenal axisHypothalamic-pituitary-adrenal axis
The hypothalamic-pituitary-adrenal axis , also known as thelimbic-hypothalamic-pituitary-adrenal axis and, occasionally, as the hypothalamic-pituitary-adrenal-gonadotropic axis, is a complex set of direct influences and feedback interactions among the hypothalamus, the pituitary gland ,...
(HPA axis). The GEO and EST profiles in NCBI, indicate that its expression level varies from tissue to tissue; however its reported expression is 1.2 times that of the average gene. It has highest expression in the pancreas and nervous tissue (in humans). It is underexpressed in many cancer cell lines, however this may be due to its close proximity to the tumor suppressor gene
Tumor suppressor gene
A tumor suppressor gene, or anti-oncogene, is a gene that protects a cell from one step on the path to cancer. When this gene is mutated to cause a loss or reduction in its function, the cell can progress to cancer, usually in combination with other genetic changes.-Two-hit hypothesis:Unlike...
FHIT
FHIT
Bis-triphosphatase also known as fragile histidine triad protein is an enzyme that in humans is encoded by the FHIT gene.- Function :FHIT is also known as human accelerated region 10...
, and the chromosomal fragile site FRBA3. Breakage at this site inactivates FHIT and can lead to the loss of C3orf14.
Function
Because C3orf14 is not ubiquitously expressed, it most likely is not a housekeeping geneHousekeeping gene
A housekeeping gene is typically a constitutive gene that is required for the maintenance of basic cellular function, and are found in all cells of an organism. Although some housekeeping genes are expressed at relatively constant levels , other housekeeping genes may vary depending on...
. Instead, it more likely plays a role in the function of specific tissues. It seems likely then, that this gene is a transcription factor
Transcription factor
In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...
, which regulates the expression of other genes important for the function of tissues where this gene is expressed highest.