C14orf93 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, res ...

that is encoded in humans by the C14orf93

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 b ...

. It is a globular protein with a conserved C-terminus that is localized to the

nucleus Nucleus ( : nuclei) is a Latin word for the seed inside a fruit. It most often refers to: *Atomic nucleus, the very dense central region of an atom * Cell nucleus, a central organelle of a eukaryotic cell, containing most of the cell's DNA Nucl ...

. While expressed relatively highly in all tissues except

nervous tissue Nervous tissue, also called neural tissue, is the main tissue component of the nervous system. The nervous system regulates and controls body functions and activity. It consists of two parts: the central nervous system (CNS) comprising the brain ...

, it is expressed particularly highly in

T cells A T cell is a type of lymphocyte. T cells are one of the important white blood cells of the immune system and play a central role in the adaptive immune response. T cells can be distinguished from other lymphocytes by the presence of a T-cell re ...

and other immune tissues.

Gene

c14orf93 is located on the short arm 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 ...

(14q11.2). c14orf93’s accession number is 021944, and its aliases are FLJ12154 and LOC60686. The gene has 2430 bp and 7 exons.

Protein

Features

The c14orf93 protein has 9

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 iso ...

. The most common and largest isoform has 538 AAs, a

molecular weight A molecule is a group of two or more atoms held together by attractive forces known as chemical bonds; depending on context, the term may or may not include ions which satisfy this criterion. In quantum physics, organic chemistry, and bioch ...

of 58.7 kdal, and a theoretical

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 5.7. This protein is globular with a conserved C-terminus, a mixed charge cluster from 371 to 399, and a high scoring uncharged segment from 28 to 58. SDSC PELE consensus data predicts 15 alpha helixes and 8 beta strands.

Post-translational modifications

Post-translational modifications 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 ribosom ...

to c14orf93 include phosphorylation, N-acetylation, and sumoylation. Serine phosphorylation sites are predicted at 23 residues, threonine at 6 residues, and

tyrosine -Tyrosine or tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid with a polar side group. The word "tyrosine" is from the G ...

at 2 residues. There are two experimentally confirmed serine phosphorylation sites at residues 285 and 428, which may serve as sites of activation or deactivation. N-acetylation is predicated at the second residue; this modification affects stability and localization. There are 6 motifs with high probability of sumoylation. SUMO (small ubiquitin-like modifiers) are small proteins like

ubiquitin Ubiquitin is a small (8.6 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e., it is found ''ubiquitously''. It was discovered in 1975 by Gideon Goldstein and further characterized throughout the late 1970s and 1980s. Fo ...

that start a cascade involved in protein stability, nuclear-cytosolic transport, and transcriptional regulation.

Subcellular localization

PSORTII data predicts that c14orf93 is localized to the

. There is a

nuclear localization signal A nuclear localization signal ''or'' sequence (NLS) is an amino acid sequence that 'tags' a protein for import into the cell nucleus by nuclear transport. Typically, this signal consists of one or more short sequences of positively charged lysines o ...

at residues 298-301. There are also two peroxisomal targeting signals at residues 451-459 and 479-487.

Expression

c14orf93 is expressed 2.7 times higher than the average gene across all tissues. It is expressed relatively highly in all tissues except for

. There is markedly higher expression seen in

, and there is a slightly higher expression pattern shown in other immune tissues such as bone marrow,

spleen The spleen is an organ found in almost all vertebrates. Similar in structure to a large lymph node, it acts primarily as a blood filter. The word spleen comes .

, and

lymph nodes A lymph node, or lymph gland, is a kidney-shaped organ of the lymphatic system and the adaptive immune system. A large number of lymph nodes are linked throughout the body by the lymphatic vessels. They are major sites of lymphocytes that inclu ...

Interacting Proteins

C14orf93 has been shown to physically interact with PTP1, MRFAP1,

Set Set, The Set, SET or SETS may refer to: Science, technology, and mathematics Mathematics *Set (mathematics), a collection of elements *Category of sets, the category whose objects and morphisms are sets and total functions, respectively Electro ...

, APP, and

MOV10 Putative helicase MOV-10 is an enzyme that in humans is encoded by the ''MOV10'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ...

; these interactions are listed in the table below. The organism column shows where the protein was sourced in the experiment showing the physical interactions. Of these five interactions, PTP1, MRFAP1, and SET have gone through the most verification. PTP1, tyrosine-protein phosphatase 1, is a protein found in yeast, but there is an ortholog in humans. PTP1 may be responsible for activating/deactivating c14orf93 due to its phosphatase activity and perinuclear location. MRFAP1, MORF4 family-associated protein 1, is a human protein that interacts with members of the MORF4/MRG family and the tumor suppressor Rb. This protein may be involved in senescence, cell growth, and immortalization. There is a human ortholog to mouse Set protein (phosphatase 2A inhibitor or I2PP2A), and it is localized to the nucleus. Set binds to DNA in order to negatively regulate neuron apoptotic processes and transcription, functioning as an oncogene.

Homology

There are

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 sp ...

for c14orf93 in all

vertebrates Vertebrates () comprise all animal taxa within the subphylum Vertebrata () (chordates with backbones), including all mammals, birds, reptiles, amphibians, and fish. Vertebrates represent the overwhelming majority of the phylum Chordata, with c ...

from

Homo sapiens Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...

to bony fish. There are no

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 sp ...

for c14orf93. C14orf93 is part of the family DUF4616; this family is marked by a domain of unknown function in the C-terminal domain. DUF4616 proteins are between 166 and 538 amino acids in length, and they are part of the sI21231 superfamily. The last 200 residues C-terminus is highly conserved with a seventeen residue pattern from 439-456 that is notably conserved in all orthologs. This region likely plays a major part in the function of c14orf93.

References

{{reflist Uncharacterized proteins