Ankycorbin is an

ankyrin repeat The ankyrin repeat is a 33-residue motif in proteins consisting of two alpha helices separated by loops, first discovered in signaling proteins in yeast Cdc10 and '' Drosophila'' Notch. Domains consisting of ankyrin tandem repeats mediate ...

and

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 v ...

domain containing

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the '' RAI14''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

. It is expressed in a variety of human tissues and is thought to play a role in actin regulation of ectoplasmic specialization, establishment of sperm polarity and sperm adhesion. It may also promote the integrity of Sertoli cell tight junctions at the blood testis barrier.

Gene

Location

RAI14 contains 15

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 sequence ...

s and is located on the plus strand of chromosome number 5 at position 5p13.2. It spans 5,068

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 position 34,656,328 to 34,832,612.

Gene Neighborhood

Genes TTC23L and LOC105374721 neighbor RAI14 on chromosome 5.

Expression

RAI14 is expressed within a wide range of human tissues. Some areas of the highest expression by TPM (transcripts per million) include tissues of the endometrium, smooth muscle, cervix, cervix, testis, and spleen. Within the human brain, RAI14 expression is abundant in the area around the brain stem and

medulla Medulla (Latin for "marrow") or medullary may refer to: Science * Medulla oblongata, a part of the brain stem * Renal medulla, a part of the kidney * Adrenal medulla, a part of the adrenal gland * Medulla of ovary, a stroma in the center of the ...

. The highest expression levels came from the

myelencephalon The myelencephalon or afterbrain is the most posterior region of the embryonic hindbrain, from which the medulla oblongata develops. Myelencephalon is from myel- (bone marrow or spinal cord) and encephalon (the vertebrate brain). Development ...

, a region of the embryonic brain that would later become the medulla oblongata. RAI14_Expression_via_The_Human_Protein_Atlas

Homology

Paralogs

RAI14 does not have any

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 speci ...

Orthologs

Most of the entire sequence of the ankycorbin protein is well conserved between the majority of mammals and

vertebrate Vertebrates () are animals with a vertebral column (backbone or spine), and a cranium, or skull. The vertebral column surrounds and protects the spinal cord, while the cranium protects the brain. The vertebrates make up the subphylum Vertebra ...

s. More distantly related

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 ...

, such as sharks, begin to lose similarity and become less conserved in the

C-terminus The C-terminus (also known as the carboxyl-terminus, carboxy-terminus, C-terminal tail, carboxy tail, C-terminal end, or COOH-terminus) is the end of an amino acid chain (protein Proteins are large biomolecules and macromolecules that comp ...

end of the protein. Ankycorbin is not well conserved within invertebrates, such as coral, at all. The latter half of the protein is largely missing and the only portion that retains some semblance of conservation is the area near the N-terminus that is associated with the ankyrin repeat domain. RAI14_Expression_Within_Human_Brain

Protein

Transcripts

Ankycorbin has four different

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

(A, B, C, and D) with most isoforms containing one or more splice variants that mainly differ in the

5' UTR The 5′ untranslated region (also known as 5′ UTR, leader sequence, transcript leader, or leader RNA) is the region of a messenger RNA (mRNA) that is directly Upstream and downstream (DNA), upstream from the initiation codon. This region is im ...

. Isoform D is the longest known isoform at 983 amino acids in length, however isoform A (980 amino acids) is the most predominant form of the protein.

General Properties

The RAI14 protein has a predicted weight of 110.0 kDal and an isoelectric point of 5.87. It's also predicted to have glutamine rich region between nucleotides 914-978 and is otherwise rich in lycine, glutamate, and serine while being poor in glycine and phenylalanine. It is a soluble protein.

Structure and Domains

Ankycorbin contains an

ankyrin Ankyrins are a family of proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane cytoskeleton. Ankyrins have binding sites for the beta subunit of spectrin and at least 12 families of integral mem ...

repeat region located near the

N-terminus The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the amin ...

that consists of 6 ankyrin repeats. The protein is predominantly composed of alpha helices and coiled-coil domains with no predicted beta-sheet structures.

Post Translational Modifications

RAI14 is a highly phosphorylated protein with hundreds of predicted phosphorylation sites. It is predicted to be a nuclear protein and contains 3 nuclear localization signals.

Function

RAI14 is predicted to play a role in cell-cell adhesion sites, particularly the cell-cell interactions of

Sertoli cell Sertoli cells are a type of sustentacular "nurse" cell found in human testes which contribute to the process of spermatogenesis (the production of sperm) as a structural component of the seminiferous tubules. They are activated by follicle-sti ...

s from within the testis. Sertoli cells are involved in the creation of the

blood testis barrier Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood is compos ...

and provides a specialized, protected environment within the

seminiferous tubule Seminiferous tubules are located within the testicles, and are the specific location of meiosis, and the subsequent creation of male gametes, namely spermatozoa. Structure The epithelium of the tubule consists of a type of sustentacular cells k ...

s of the testis for

germ cell A germ cell is any cell that gives rise to the gametes of an organism that reproduces sexually. In many animals, the germ cells originate in the primitive streak and migrate via the gut of an embryo to the developing gonads. There, they unde ...

development.

References

{{Reflist