The human gene Chromosome 3

open reading frame In molecular biology, reading frames are defined as spans of DNA sequence between the start and stop codons. Usually, this is considered within a studied region of a prokaryotic DNA sequence, where only one of the six possible reading frames ...

14 is a gene of uncertain function located at 3p14.2 near fragile site FRBA3—which falls between this gene and the

centromere The centromere links a pair of sister chromatids together during cell division. This constricted region of chromosome connects the sister chromatids, creating a short arm (p) and a long arm (q) on the chromatids. During mitosis, spindle fiber ...

. Its protein is expected to localize to the nucleus and bind DNA.

Orthologs Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a spec ...

have been identified in all of the major animal groups, minus amphibians and insects, tracing as far back as the

sea anemone Sea anemones ( ) are a group of predation, predatory marine invertebrates constituting the order (biology), order Actiniaria. Because of their colourful appearance, they are named after the ''Anemone'', a terrestrial flowering plant. Sea anemone ...

; indicating an origin of over 1000 mya, highlighting its importance in the animal

genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...

Gene aliases

C3orf14 is also known by the aliases LOC57415, FLJ94553 and FLJ17473. Gene orthologs found in other organisms are usually known by the name c3orf14-like, though some are known as LOC57415-like or HT021-like (protein name).

Structure

The mRNA is composed of 6

exons An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence i ...

, and encodes a 15007.84 kD protein known as HT021. This protein has a pre-modification

isoelectric point The isoelectric point (pI, pH(I), IEP), is the pH at which a molecule carries no net electric charge, electrical charge or is electrically neutral in the statistical mean. The standard nomenclature to represent the isoelectric point is pH(I). Howe ...

of 5.57 and

alpha helices An alpha helix (or α-helix) is a sequence of amino acids in a protein that are twisted into a coil (a helix). The alpha helix is the most common structural arrangement in the secondary structure of proteins. It is also the most extreme type of l ...

span most of its length. Four sites of possible

phosphorylation In biochemistry, phosphorylation is described as the "transfer of a phosphate group" from a donor to an acceptor. A common phosphorylating agent (phosphate donor) is ATP and a common family of acceptor are alcohols: : This equation can be writ ...

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 DNA-binding proteins are proteins that have DNA-binding domains and thus have a specific or general affinity for single- or double-stranded DNA. Sequence-specific DNA-binding proteins generally interact with the major groove of B-DNA, becau ...

. The protein may assume a

tertiary structure Protein tertiary structure is the three-dimensional shape of a protein. The tertiary structure will have a single polypeptide chain "backbone" with one or more protein secondary structures, the protein domains. Amino acid side chains and the ...

of a

coiled coil A coiled coil is a structural motif in proteins in which two to seven alpha-helices are coiled together like the strands of a rope. ( Dimers and trimers are the most common types.) They have been found in roughly 5-10% of proteins and have a ...

Homology

of this gene has been identified in most animal groups:

mammals A mammal () is a vertebrate animal of the class Mammalia (). Mammals are characterised by the presence of milk-producing mammary glands for feeding their young, a broad neocortex region of the brain, fur or hair, and three middle e ...

monotremes Monotremes () are mammals of the order Monotremata. They are the only group of living mammals that lay eggs, rather than bearing live young. The extant monotreme species are the platypus and the four species of echidnas. Monotremes are typified ...

aves Birds are a group of warm-blooded vertebrates constituting the class Aves (), characterised by feathers, toothless beaked jaws, the laying of hard-shelled eggs, a high metabolic rate, a four-chambered heart, and a strong yet lightweight ...

reptiles Reptiles, as commonly defined, are a group of tetrapods with an ectothermic metabolism and Amniotic egg, amniotic development. Living traditional reptiles comprise four Order (biology), orders: Testudines, Crocodilia, Squamata, and Rhynchocepha ...

fish A fish (: fish or fishes) is an aquatic animal, aquatic, Anamniotes, anamniotic, gill-bearing vertebrate animal with swimming fish fin, fins and craniate, a hard skull, but lacking limb (anatomy), limbs with digit (anatomy), digits. Fish can ...

and

invertebrates Invertebrates are animals that neither develop nor retain a vertebral column (commonly known as a ''spine'' or ''backbone''), which evolved from the notochord. It is a paraphyletic grouping including all animals excluding the chordate subphylum ...

. Transcripts have not been identified in

amphibians Amphibians are ectothermic, anamniote, anamniotic, tetrapod, four-limbed vertebrate animals that constitute the class (biology), class Amphibia. In its broadest sense, it is a paraphyletic group encompassing all Tetrapod, tetrapods, but excl ...

insects Insects (from Latin ') are hexapod invertebrates of the class Insecta. They are the largest group within the arthropod phylum. Insects have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed ...

; however only

model organisms A model organism is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workings of other organisms. Mo ...

have been sequenced from these groups. Very recently the first ortholog in reptiles was identified in ''

Anolis carolinensis ''Anolis carolinensis'' or green anole () (among other names below) is a tree-dwelling species of anole lizard native to the southeastern United States and introduced to islands in the Pacific Ocean, Pacific and Caribbean Sea, Caribbean. A small ...

''. 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 Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a spec ...

have been found in plants or bacteria. Below is a

phylogenetic tree A phylogenetic tree or phylogeny is a graphical representation which shows the evolutionary history between a set of species or taxa during a specific time.Felsenstein J. (2004). ''Inferring Phylogenies'' Sinauer Associates: Sunderland, MA. In ...

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 axis (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 A tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell (biology), cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results ...

FHIT Bis(5'-adenosyl)-triphosphatase also known as fragile histidine triad protein (FHIT) is an enzyme that in humans is encoded by the ''FHIT'' gene. Function FHIT is also known as human accelerated region 10. It may, therefore, have played a ke ...

, and the

chromosomal fragile site A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break when the cell is exposed to partial replication stress. Based on their frequency, fragile sites are classified ...

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 gene In molecular biology, housekeeping genes are typically constitutive genes that are required for the maintenance of basic cellular function, and are expressed in all cells of an organism under normal and patho-physiological conditions. Although ...

. Instead, it more likely plays a role in the function of specific tissues. It seems likely then, that this gene is a

transcription factor In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription (genetics), transcription of genetics, genetic information from DNA to messenger RNA, by binding t ...

, which regulates the expression of other genes important for the function of tissues where this gene is expressed highest.

References

External links

PubMed

NCBI gene record

GeneCards

UCSC Genome Browser
{{DEFAULTSORT:C3orf14-Chromosome 3 Open Reading Frame 14 Genes on human chromosome 3