NBPF10
Encyclopedia
Neuroblastoma breakpoint family member 10 is a protein
that in Homo sapiens is encoded by the NBPF10 gene
.
The full gene is 75,313 bp, with the major isoform of mRNA being 10,697 bp long. The gene is located at 1q21.1. NBPF contains what is known as the DUF1220
repeats. The highly conserved, repeated region is believed to be originated from MGC8902
. The NBPF family has been linked to primate evolution.. It is assumed to be related to the 1q21.1 deletion syndrome
and 1q21.1 duplication syndrome
.
Orthologs of NBPF10 are found in other primates; distant orthologs are found in bovine, equine, and canine
Phenotype
, HFE2
, TXNIP
are close neighbors of NBPF10. All of these neighboring genes are well studied in their own right.
content which may make the protein less susceptible to post-translational modification.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in Homo sapiens is encoded by the NBPF10 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
The full gene is 75,313 bp, with the major isoform of mRNA being 10,697 bp long. The gene is located at 1q21.1. NBPF contains what is known as the DUF1220
DUF1220
DUF1220 is a protein domain of unknown function that shows a striking human-specific increase in copy number and may be important to human brain evolution. The copy number of DUF1220 domains increases generally as a function of a species evolutionary proximity to humans. DUF1220 copy number is...
repeats. The highly conserved, repeated region is believed to be originated from MGC8902
MGC8902
MGC8902 is the gene implicated in the function of the neocortex. Researchers predict MGC8902 encodes for multiple sections of a protein, called DUF1220, whose function is unknown but which is abundant in the neocortex and in particular subsets of brain cells....
. The NBPF family has been linked to primate evolution.. It is assumed to be related to the 1q21.1 deletion syndrome
1q21.1 deletion syndrome
1q21.1 deletion syndrome or 1q21.1 microdeletion is a rare aberration of chromosome 1. , the international rare chromosome disorder group, has 48 genetically confirmed registered cases of this deletion worldwide ....
and 1q21.1 duplication syndrome
1q21.1 duplication syndrome
1q21.1 duplication syndrome or 1q21.1 microduplication is a rare aberration of chromosome 1. , the international rare chromosome disorder group, has 38 genetically confirmed registered cases of this duplication worldwide ....
.
Homology
Paralogs of NBPF10 includes other NBPF family members.Orthologs of NBPF10 are found in other primates; distant orthologs are found in bovine, equine, and canine
Functional role
Although NBPF10's function is unknown, there is reason to believe that NBPF10 is an important biomarker for the OdontoblastOdontoblast
In vertebrates, an odontoblast is a biological cell of neural crest origin that is part of the outer surface of the dental pulp, and whose biological function is dentinogenesis, which is the creation of dentin, the substance under the tooth enamel....
Phenotype
Phenotype
A phenotype is an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior...
Gene Neighborhood
NOTCH2NL, SEC22BSEC22B
Vesicle-trafficking protein SEC22b is a protein that in humans is encoded by the SEC22B gene. SEC22B has been shown to interact with syntaxin 18.-Further reading:...
, HFE2
Hemojuvelin
Hemojuvelin is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis. In humans, the hemojuvelin protein is encoded by the HFE2 gene...
, TXNIP
TXNIP
Thioredoxin-interacting protein is a protein that in humans is encoded by the TXNIP gene.-Interactions:TXNIP has been shown to interact with Thioredoxin and ZBTB32.-Related gene problems:*TAR syndrome*1q21.1 deletion syndrome...
are close neighbors of NBPF10. All of these neighboring genes are well studied in their own right.
Post-translational modification
NBPF10 has extremely low threonineThreonine
Threonine is an α-amino acid with the chemical formula HO2CCHCHCH3. Its codons are ACU, ACA, ACC, and ACG. This essential amino acid is classified as polar...
content which may make the protein less susceptible to post-translational modification.