NBPF19
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Neuroblastoma breakpoint family member 19, or NBPF19, 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
human 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, ...
s is encoded by the NBPF19
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 ...
. This protein is included in the neuroblastoma breakpoint family of proteins.


Gene

The NBPF19 gene is a protein-encoding gene in humans. It is composed of 80,464 bases including all introns and exons. It is located on the positive strand of chromosome 1 at locus 1q21.2.


Expression

EST profiling of NBPF19 shows it to be ubiquitously expressed in most human tissues at unremarkable amounts. It is expressed in relatively higher amounts in the
skin Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have diffe ...
, lymphoid organs (
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 includ ...
,
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 the gonads (
ovary The ovary is an organ in the female reproductive system that produces an ovum. When released, this travels down the fallopian tube into the uterus, where it may become fertilized by a sperm. There is an ovary () found on each side of the body. ...
,
testes A testicle or testis (plural testes) is the male reproductive gland or gonad in all bilaterians, including humans. It is homologous to the female ovary. The functions of the testes are to produce both sperm and androgens, primarily testoster ...
).


Transcript

The mRNA transcript of NBPF19 in humans is 13,190 bases long. There are 2 predicted alternative splicing isoforms, although none have been experimentally observed.


Protein

The protein product of the NBPF19 transcript is composed of 3,843 amino acids and weights 440.5 kD. It contains 45 DUF1220 domains of unknown function but that have been linked to evolutionary changes and generally decrease in number in species increasingly evolutionarily distant from humans.


Structure

NBPF19 is expected to undergo many post-translational modifications, most notably
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 ...
and
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 ...
. The protein is extensively phosphorylated on serine, threonine and tyrosine residues in a repetitive pattern seen in the figure to the left. There are 14 predicted repeats within the protein sequence likely to be sites of sumoylation. The tertiary structure of NBPF19 is predicted to be roughly 50% coiled-coil and 40%
alpha helical 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 ...
. There is no presence of a signal peptide or any transmembrane domains. NBPF19 is likely 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 Nucle ...
due to the presence of a nuclear localization signal near its 5' terminus.


Homology

NBPF19 is one of 26 identified members of the neuroblastoma breakpoint family of proteins in humans. Sequence similarity among these proteins is largely limited to conservation of DUF1220 domains. The most highly-similar paralogs are listed below: NBPF19 is not well conserved outside of humans and any notable conservation does not extend past primates and mammals. Select species possess short sequences of similarity and are listed below: * ''
Pan troglodytes The chimpanzee (''Pan troglodytes''), also known as simply the chimp, is a species of Hominidae, great ape native to the forest and savannah of tropical Africa. It has four confirmed subspecies and a fifth proposed subspecies. When its close r ...
'' (common chimpanzee) * ''
Pongo abelii The Sumatran orangutan (''Pongo abelii'') is one of the three species of orangutans. Critically Endangered, and found only in the north of the Indonesian island of Sumatra, it is rarer than the Bornean orangutan but more common than the recently ...
'' (Sumatran orangutan) * '' Piliocolobus tephrosceles'' (Ugandan red colobus) * ''
Bos taurus Cattle (''Bos taurus'') are large, domesticated, cloven-hooved, herbivores. They are a prominent modern member of the subfamily Bovinae and the most widespread species of the genus ''Bos''. Adult females are referred to as cows and adult ma ...
'' (cow) * ''
Felis catus The cat (''Felis catus'') is a domestic species of small carnivorous mammal. It is the only domesticated species in the family Felidae and is commonly referred to as the domestic cat or house cat to distinguish it from the wild members of t ...
'' (cat) * ''
Camelus ferus A camel (from: la, camelus and grc-gre, κάμηλος (''kamēlos'') from Hebrew or Phoenician: גָמָל ''gāmāl''.) is an even-toed ungulate in the genus ''Camelus'' that bears distinctive fatty deposits known as "humps" on its back. C ...
'' (Bactrian camel) * ''
Sus scrofa The wild boar (''Sus scrofa''), also known as the wild swine, common wild pig, Eurasian wild pig, or simply wild pig, is a suid native to much of Eurasia and North Africa, and has been introduced to the Americas and Oceania. The species is no ...
'' (wild boar) * ''
Equus asinus The domestic donkey is a hoofed mammal in the family Equidae, the same family as the horse. It derives from the African wild ass, ''Equus africanus'', and may be classified either as a subspecies thereof, ''Equus africanus asinus'', or as a ...
'' (donkey)


References


Further reading

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