Basal body-orientation factor 1 (BBOF1) is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

that in humans is encoded by the

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

CCDC176, which is located on the plus strand of

chromosome 14 Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA ...

at 14q24.3. CCDC176 is neighbored by ALDH6A1 and ENTPD5 at the same locus. The

mRNA In molecular biology, messenger ribonucleic acid (mRNA) is a single-stranded molecule of RNA that corresponds to the genetic sequence of a gene, and is read by a ribosome in the process of Protein biosynthesis, synthesizing a protein. mRNA is ...

is 3123 base pairs long and has 12

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 ...

, the protein is 529 amino acids long and has a molecular weight of 61987 Da and a predicted

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

of 9.07 in humans.

Homology and evolution

CCDC176 has no known

paralogs 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 ...

and is

orthologous 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 ...

in primates, mammals, birds, reptiles, amphibians, fish, all the way back to invertebrates, a fungi parasite and a proteobacteria. The domain found to be homologous is the DUF4515, a

domain of unknown function A domain of unknown function (DUF) is a protein domain that has no characterised function. These families have been collected together in the Pfam database using the prefix DUF followed by a number, with examples being DUF2992 and DUF1220. As of 201 ...

Protein function and characteristics

This basal body protein has been shown in multiciliated cells to align and maintain

cilia The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projecti ...

orientation in response to flow. This protein may also act by mediating a maturation step that stabilizes and aligns cilia orientation. No other genes or proteins have been found that encode basal body orientation factors. A similar set of genes, tubulin tyrosine ligase-like genes 3 and 6, has been found in

zebrafish The zebrafish (''Danio rerio'') is a freshwater fish belonging to the minnow family ( Cyprinidae) of the order Cypriniformes. Native to South Asia, it is a popular aquarium fish, frequently sold under the trade name zebra danio (and thus often ...

that maintain cilia structure and motility. These genes belong to the TTL (tubulin tyrosine ligase) family. BBOF1 has two

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. (Dimers and trimers are the most common types.) Many coiled coil-type proteins are involved in important biological fun ...

domains, one that is 117 amino acids in length at the position 85-201 and the second is 91 amino acids in length at the position 271-361. There is also a region of interest located at the position 77-270 and is named DUF4515, a domain of unknown function belonging to the family of pfam14988. There are three predicted protein-protein interactions concerning CCDC176. The most prevalent and most likely interaction is with

LIG4 DNA ligase 4 is an enzyme that in humans is encoded by the LIG4 gene. Function The protein encoded by this gene is an ATP-dependent DNA ligase that joins double-strand breaks during the non-homologous end joining pathway of double-strand break ...

, a human gene that encodes the protein DNA

Ligase In biochemistry, a ligase is an enzyme that can catalyze the joining (ligation) of two large molecules by forming a new chemical bond. This is typically via hydrolysis of a small pendant chemical group on one of the larger molecules or the enzym ...

IV. Two experiments in a publication of 1030 unique reactions support the LIG4-CCDC176 interaction. The second and third predicted interactions are

NRF1 Nuclear respiratory factor 1, also known as Nrf1, Nrf-1, NRF1 and NRF-1, encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nucl ...

and HYLS1. The predicted

secondary structure Protein secondary structure is the three dimensional conformational isomerism, form of ''local segments'' of proteins. The two most common Protein structure#Secondary structure, secondary structural elements are alpha helix, alpha helices and beta ...

of BBOF1 in humans is as follows: 87.1%

alpha helix 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 e ...

, 63.9%

beta sheet The beta sheet, (β-sheet) (also β-pleated sheet) is a common motif of the regular protein secondary structure. Beta sheets consist of beta strands (β-strands) connected laterally by at least two or three backbone hydrogen bonds, forming a g ...

, and 15.7%

beta turn β turns (also β-bends, tight turns, reverse turns, Venkatachalam turns) are the most common form of turns—a type of non-regular secondary structure in proteins that cause a change in direction of the polypeptide chain. They are very common mot ...

Expression, research, and clinical significance

CCDC176 has known

expression Expression may refer to: Linguistics * Expression (linguistics), a word, phrase, or sentence * Fixed expression, a form of words with a specific meaning * Idiom, a type of fixed expression * Metaphorical expression, a particular word, phrase, o ...

in the human testis, cerebellum, and lung tissues. There are six articles of research related to the gene CCDC176, with four out of six being large-scale

sequencing In genetics and biochemistry, sequencing means to determine the primary structure (sometimes incorrectly called the primary sequence) of an unbranched biopolymer. Sequencing results in a symbolic linear depiction known as a sequence which succ ...

, one article not naming the gene or protein, and one article with only the abstract available. This last article, Global, in vivo, and site-specific phosphorylation dynamics in signaling networks, is the only article that directly mentions the protein of interest and it does so only once. This study detected 6,600 phosphorylation sites on 2,244 proteins. Expression data from different health states in humans predicts high expression of CCDC176 in

glioma A glioma is a type of tumor that starts in the glial cells of the brain or the spine. Gliomas comprise about 30 percent of all brain tumors and central nervous system tumours, and 80 percent of all malignant brain tumours. Signs and symptoms ...

. The interaction data concerning CCDC176 and LIG4 came from a publication studying protein-protein interaction involved with the

DNA damage DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as radiation can cause DNA da ...

response network in association with

cancer Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal b ...

http://thebiogrid.org/149877/publication/charting-the-landscape-of-tandem-brct-domain-mediated-protein- interactions.html

References

{{reflist Human proteins