Uncharactarized protein C1orf127 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 C1orf127

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 ...

, the structure and function of which is poorly understood by the scientific community. C1orf127 is targeted for

extracellular This glossary of biology terms is a list of definitions of fundamental terms and concepts used in biology, the study of life and of living organisms. It is intended as introductory material for novices; for more specific and technical definitions ...

secretion in humans.

Gene

C1orf127 is located on the short arm of

Chromosome 1 Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which ar ...

(1p36.22), spanning 35,566

base pair 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 ...

s from 10946471 to 10982037. It is oriented on the minus strand of the chromosome.

mRNA

The primary assembly has 13

exon 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 sequen ...

s, and yields an 823

amino acid Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although hundreds of amino acids exist in nature, by far the most important are the alpha-amino acids, which comprise proteins. Only 22 alpha am ...

protein product. There are two known

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 ...

caused by

alternative splicing Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be ...

Protein

C1orf127’s protein product is a member of the

Ensembl Ensembl genome database project is a scientific project at the European Bioinformatics Institute, which provides a centralized resource for geneticists, molecular biologists and other researchers studying the genomes of our own species and other v ...

protein family TF607005. The primary assembly weighs 89 kDa with an

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 5.54, making it both longer and heavier than the average protein.

Domains and Motifs

C1orf127 is contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily. The functions of both domains are unknown. The protein also appears to have a cleavable

signal peptide A signal peptide (sometimes referred to as signal sequence, targeting signal, localization signal, localization sequence, transit peptide, leader sequence or leader peptide) is a short peptide (usually 16-30 amino acids long) present at the N-ter ...

from Met1 to Pro18.

Subcellular Localization

The protein C1orf127 is suggested to be localized to the extracellular matrix in humans.

Post-Translational Modifications

C1orf127 undergoes N and O-linked glycosylation, and contains a number of potential

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 ...

sites.

Protein-Protein Interactions

C1orf127 is suggested to interact with two different proteins,

CCT3 T-complex protein 1 subunit gamma is a protein that in humans is encoded by the ''CCT3'' gene. Function This gene encodes a molecular chaperone that is member of the TRiC complex. This complex consists of two identical stacked rings, each co ...

, a

molecular chaperone In molecular biology, molecular chaperones are proteins that assist the conformational folding or unfolding of large proteins or macromolecular protein complexes. There are a number of classes of molecular chaperones, all of which function to assi ...

, and

CCT6B T-complex protein 1 subunit zeta-2 is a protein that in humans is encoded by the ''CCT6B'' gene. This gene encodes a molecular chaperone that is a member of the TRiC complex. This complex consists of two identical stacked rings, each containing ...

, also a molecular chaperone found in the testis. Because these interacting proteins are both molecular chaperones, it is possible that C1orf127 must undergo chaperone-assisted folding or unfolding.

Expression

C1orf127 is not

constitutively expressed Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. The ...

, but it is expressed at low to medium levels in a variety of tissues. Greatest expression is observed in the stomach and pancreas. It is also thought to be expressed in certain areas of both the developing and adult brain, such as the

cerebellum The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as or even larger. In humans, the cerebel ...

, as well as

skeletal muscle Skeletal muscles (commonly referred to as muscles) are organs of the vertebrate muscular system and typically are attached by tendons to bones of a skeleton. The muscle cells of skeletal muscles are much longer than in the other types of muscl ...

tissue, the testis, cardiac muscle, and throughout the

digestive system The human digestive system consists of the gastrointestinal tract plus the accessory organs of digestion (the tongue, salivary glands, pancreas, liver, and gallbladder). Digestion involves the breakdown of food into smaller and smaller compone ...

. Little else is known about this gene’s expression, however a 2012 paper published in the ''

World Journal of Gastroenterology ''World Journal of Gastroenterology'' is a weekly peer-reviewed open access medical journal that covers research in gastroenterology. It was established in 1995 and is published by Baishideng Publishing Group, which was included on Beall's list of ...

'' suggested that it’s mis-expression could be used as a diagnostic marker locus in the detection of cancer

Evolutionary History

C1orf127 has no paralogs within the human genome, however a number of

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, ranging across the

jawed vertebrates Gnathostomata (; from Greek: (') "jaw" + (') "mouth") are the jawed vertebrates. Gnathostome diversity comprises roughly 60,000 species, which accounts for 99% of all living vertebrates, including humans. In addition to opposing jaws, living ...

, including a number of other mammals, marsupials, amphibians, and fish. One of the most distant ortholog identified is found in ''Danio rerio''. Thus, the ancestor of C1orf127 likely arose around 435 MYA.

References

{{reflist

C1orf127

Genes on human chromosome 1