Chromosome 3 open reading frame 67 or C3orf67 is a protein that in humans is encoded by the gene ''C3orf67''. The function of ''C3orf67'' is not yet fully understood.

Gene

''C3orf67'' is located at 3p14.2 on the reverse strand ranging from 58716417 to 59050045

base pairs A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...

. The accession number is NP_001338459.1.

Protein

Primary sequence and isoforms

The

coding sequence The coding region of a gene, also known as the coding sequence (CDS), is the portion of a gene's DNA or RNA that codes for protein. Studying the length, composition, regulation, splicing, structures, and functions of coding regions compared to no ...

is 402-2681 base pairs of 3135 base pairs, making up 759 amino acids. ''C3orf67'' has six validated

isoforms A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some isof ...

Isoform A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some isof ...

one is the most complete with 16 exons. ''C3orf67'' weighs 84.35

kilodalton The dalton or unified atomic mass unit (symbols: Da or u) is a non-SI unit of mass widely used in physics and chemistry. It is defined as of the mass of an unbound neutral atom of carbon-12 in its nuclear and electronic ground state and at ...

Domains and motifs

There are three functional domains identified for ''C3orf67'' * DUF667 * CM_mono2 * OCRE

Post-translational modifications

Several

post-translational modification Post-translational modification (PTM) is the covalent and generally enzymatic modification of proteins following protein biosynthesis. This process occurs in the endoplasmic reticulum and the golgi apparatus. Proteins are synthesized by ribosome ...

s have been predicted for ''C3orf67'' in conserved regions using various

bioinformatic Bioinformatics () is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, bioinformatics combine ...

prediction tools * Two

nuclear export signal A nuclear export signal (NES) is a short target peptide containing 4 hydrophobic residues in a protein that targets it for export from the cell nucleus to the cytoplasm through the nuclear pore complex using nuclear transport. It has the opposite ...

s * Three

sumoylation In molecular biology, SUMO (Small Ubiquitin-like Modifier) proteins are a family of small proteins that are covalently attached to and detached from other proteins in cells to modify their function. This process is called SUMOylation (sometimes w ...

sites * Two

o-glycosylation ''O''-linked glycosylation is the attachment of a sugar molecule to the oxygen atom of serine (Ser) or threonine (Thr) residues in a protein. ''O''-glycosylation is a post-translational modification that occurs after the protein has been synthes ...

sites * One

phosphorylation In chemistry, phosphorylation is the attachment of a phosphate group to a molecule or an ion. This process and its inverse, dephosphorylation, are common in biology and could be driven by natural selection. Text was copied from this source, wh ...

site * One

tyrosine sulfation Tyrosine sulfation is a posttranslational modification where a sulfate group is added to a tyrosine residue of a protein molecule. Secreted proteins and extracellular parts of membrane proteins that pass through the Golgi apparatus may be sulfated. ...

site

Secondary structure

The beginning of ''C3orf67'' is predicted to consist of a series of

beta strands Beta (, ; uppercase , lowercase , or cursive ; grc, βῆτα, bē̂ta or ell, βήτα, víta) is the second letter of the Greek alphabet. In the system of Greek numerals, it has a value of 2. In Modern Greek, it represents the voiced labio ...

and a couple

alpha helices The alpha helix (α-helix) is a common motif in the secondary structure of proteins and is a right hand-helix conformation in which every backbone N−H group hydrogen bonds to the backbone C=O group of the amino acid located four residues ear ...

that coincide with the DUF667 domain. There are also alpha helices predicted in regions that correspond to the CM_mono2 and OCRE domains.

Tertiary structure

The DUF667 region is predicted to form a tube-like structure from a series of beta sheets.

Homology and Evolution

Paralogs

There are no known

paralog 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 ...

s of ''C3orf67''.

Orthologs

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 for ''C3orf67'' in species ranging from fungus, plants,

hemichordate Hemichordata is a phylum which consists of triploblastic, enterocoelomate, and bilaterally symmetrical marine deuterostome animals, generally considered the sister group of the echinoderms. They appear in the Lower or Middle Cambrian and includ ...

s, parasites, fish, reptiles, birds, invertebrates, and mammals. Mutation_rate_of_C3orf67

Distant homologs

Expression

Promoter

The promoter is well conserved across humans, gibbons, baboons, orangutans, cats, squirrels, alpacas, rabbits and mice. There are several high quality

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

binding sites. There are also several stem-loop structures that are predicted to be formed in the promoter region, some of which overlap with transcription factor binding sites. Tissue_expression_C3orf67

Expression

''C3orf67'' is prominently expressed in the liver, tonsils, trachea, ovaries, testis, placenta, and colon. In other tissues it is expressed at low levels. An increase in expression has been linked to

small cell lung cancer Small-cell carcinoma is a type of highly malignant cancer that most commonly arises within the lung, although it can occasionally arise in other body sites, such as the cervix, prostate, and gastrointestinal tract. Compared to non-small cell car ...

Function

The protein has been identified as one of seventeen (17) genes that may play a novel role in the intersection of tumor promotion and DNA-damaging stress and may be linked to

carcinogenesis Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells. The process is characterized by changes at the cellular, genetic, and epigenetic levels and abnor ...

Interacting Proteins

Transcription factors

There are three notable

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

that are known to be involved in the regulation of cell growth or immune responses: * V$SMAD3.01 ** Smad3 is a transcription factor involved in

TGF-beta Transforming growth factor beta (TGF-β) is a multifunctional cytokine belonging to the transforming growth factor superfamily that includes three different mammalian isoforms (TGF-β 1 to 3, HGNC symbols TGFB1, TGFB2, TGFB3) and many other sign ...

signaling. * V$EBF1.01 ** Early B-cell factor 1 regulates

B cell B cells, also known as B lymphocytes, are a type of white blood cell of the lymphocyte subtype. They function in the humoral immunity component of the adaptive immune system. B cells produce antibody molecules which may be either secreted or ...

gene networks. * V$IK2.01 ** Ikaros 2 is a potential regulator for

lymphocyte A lymphocyte is a type of white blood cell (leukocyte) in the immune system of most vertebrates. Lymphocytes include natural killer cells (which function in cell-mediated, cytotoxic innate immunity), T cells (for cell-mediated, cytotoxic ad ...

differentiation.

Other interacting proteins

Several other proteins have been predicted to interact with C3orf67: *

CLK1 Dual specificity protein kinase CLK1 is an enzyme that in humans is encoded by the ''CLK1'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''gene ...

Phosphorylates In chemistry, phosphorylation is the attachment of a phosphate group to a molecule or an ion. This process and its inverse, dephosphorylation, are common in biology and could be driven by natural selection. Text was copied from this source, whi ...

serine/arginine-rich proteins involved in

pre-mRNA processing Transcriptional modification or co-transcriptional modification is a set of biological processes common to most eukaryotic cells by which an RNA primary transcript is chemically altered following transcription from a gene to produce a mature, fun ...

in the nucleus. *

CDK16 (gene) Serine/threonine-protein kinase PCTAIRE-1 is an enzyme that in humans is encoded by the ''PCTK1'' gene. Function The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role i ...

** A

protein kinase A protein kinase is a kinase which selectively modifies other proteins by covalently adding phosphates to them (phosphorylation) as opposed to kinases which modify lipids, carbohydrates, or other molecules. Phosphorylation usually results in a fu ...

thought to play a role in signal transduction cascades in differentiated cells,

exocytosis Exocytosis () is a form of active transport and bulk transport in which a cell transports molecules (e.g., neurotransmitters and proteins) out of the cell ('' exo-'' + ''cytosis''). As an active transport mechanism, exocytosis requires the use o ...

, and transport of secretory cargo from the ER. * MARS2 ** Mitochondrial methionyl-tRNA synthetase. * AARS2 ** mitochondrial alanyl-tRNA synthetase. * C12orf60

References

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