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NBPF
The neuroblastoma breaking point family (''NBPF'') is a family of genes involved in neuronal development. The family is highly specific to primates, with minimal similarity or presence in other mammals and no presence in other animals, and its genes' content has been subject to a very high number of duplications in humans. It was described by Vandepoele ''et al.'' in 2005 and named as such because '' NBPF1'' was found to be broken by a chromosomal translocation in a neuroblastoma patient. The ''NBPF'' genes contain multiple copies of the Olduvai domain. A higher number of copies of this domain has been found to be correlated with brain size and autism severity, while a lower number of copies has been found to be correlated with schizophrenia severity. The only other gene known to have an Olduvai domain is myomegalin, which is believed to be the origin of the ''NBPF'' genes as it has orthologues in more basal mammals. Additionally, myomegalin is adjacent to many of the ''NBPF'' gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF1
Neuroblastoma breakpoint family, member 1, or NBPF1, is a protein that is encoded by the gene ''NBPF1'' in humans. This protein is member of the neuroblastoma breakpoint family of proteins, a group of proteins that are thought to be involved in the development of the nervous system. Gene The NBPF1 gene in humans is located on the minus strand of 1p36.3 in humans and is 51179 base pairs long including exons and introns. It is located between the protein coding genes NECAP2 and CROCC. NBPF1 is one of the 26 known members of the Neuroblastoma Breakpoint Family genes and pseudogenes. The NBPF2 pseudogene and NBPF3 gene are the most similar genes located close to NBPF1 and they reside on the chromosomal location 1p36.12. Most members of the NBPF gene family are located on chromosomal location 1q21.1-1q23.3 in humans, and these genes are more similar to each other in sequence than they are to NBPF1. Transcript The transcript for NBPF1 in humans is a 6183 base pair mRNA that is made ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF12
Neuroblastoma breakpoint family, member 1, or NBPF1, is a protein that is encoded by the gene ''NBPF1'' in humans. This protein is member of the neuroblastoma breakpoint family of proteins, a group of proteins that are thought to be involved in the development of the nervous system. Gene The NBPF1 gene in humans is located on the minus strand of 1p36.3 in humans and is 51179 base pairs long including exons and introns. It is located between the protein coding genes NECAP2 and CROCC. NBPF1 is one of the 26 known members of the Neuroblastoma Breakpoint Family genes and pseudogenes. The NBPF2 pseudogene and NBPF3 gene are the most similar genes located close to NBPF1 and they reside on the chromosomal location 1p36.12. Most members of the NBPF gene family are located on chromosomal location 1q21.1-1q23.3 in humans, and these genes are more similar to each other in sequence than they are to NBPF1. Transcript The transcript for NBPF1 in humans is a 6183 base pair mRNA that is made ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF26
The neuroblastoma breaking point family (''NBPF'') is a family of genes involved in neuronal development. The family is highly specific to primates, with minimal similarity or presence in other mammals and no presence in other animals, and its genes' content has been subject to a very high number of duplications in humans. It was described by Vandepoele ''et al.'' in 2005 and named as such because ''NBPF1'' was found to be broken by a chromosomal translocation in a neuroblastoma patient. The ''NBPF'' genes contain multiple copies of the Olduvai domain. A higher number of copies of this domain has been found to be correlated with brain size and autism severity, while a lower number of copies has been found to be correlated with schizophrenia severity. The only other gene known to have an Olduvai domain is myomegalin, which is believed to be the origin of the ''NBPF'' genes as it has orthologues in more basal mammals. Additionally, myomegalin is adjacent to many of the ''NBPF'' genes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF20
The neuroblastoma breaking point family (''NBPF'') is a family of genes involved in neuronal development. The family is highly specific to primates, with minimal similarity or presence in other mammals and no presence in other animals, and its genes' content has been subject to a very high number of duplications in humans. It was described by Vandepoele ''et al.'' in 2005 and named as such because ''NBPF1'' was found to be broken by a chromosomal translocation in a neuroblastoma patient. The ''NBPF'' genes contain multiple copies of the Olduvai domain. A higher number of copies of this domain has been found to be correlated with brain size and autism severity, while a lower number of copies has been found to be correlated with schizophrenia severity. The only other gene known to have an Olduvai domain is myomegalin, which is believed to be the origin of the ''NBPF'' genes as it has orthologues in more basal mammals. Additionally, myomegalin is adjacent to many of the ''NBPF'' genes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF19
Neuroblastoma breakpoint family member 19, or NBPF19, is a protein that in humans is encoded by the NBPF19 gene. 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, lymphoid organs (lymph nodes, spleen) and the gonads (ovary, testes). 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 be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF3
Neuroblastoma breakpoint family, member 3, also known as NBPF3, is a human gene of the neuroblastoma breakpoint family, which resides on chromosome 1 of the human genome. NBPF3 is located at 1p36.12, immediately upstream of genes ALPL and RAP1GAP. Protein sequence The NBPF3 gene is 633 amino acids long and contains five DUF1220 domains, which are highlighted in the image below. DUF1220 domains are found in all other members of the neuroblastoma breakpoint family. The protein has a very repetitive structure, since, along with the remaining members of its protein family, it likely arose form segmental duplications on chromosome 1. The domains are located at residues 236–298, 322–385, 394–460, 469–535, and 544–610. The protein sequence is rich in three amino acids that are polar and negatively charged at physiological pH: glutamic acid, aspartic acid and glutamine. The isoelectric point of the protein is 4.21, the acidity of which may be attributed to the abundance of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Olduvai Domain
The Olduvai domain, known until 2018 as DUF1220 (domain of unknown function 1220) and the NBPF repeat, is a protein domain that shows a striking human lineage-specific (HLS) increase in copy number and appears to be involved in human brain evolution. The protein domain has also been linked to several neurogenetic disorders such as schizophrenia (in reduced copies) and increased severity of autism (in increased copies). In 2018, it was named by its discoverers after Olduvai Gorge in Tanzania, one of the most important archaeological sites for early humans, to reflect data indicating its role in human brain size and evolution. Olduvai domains form the core of ''NBPF'' genes, which first appeared in placental mammals and experienced a rapid expansion in monkeys (simians) through duplication to reach over 20 genes in humans. In humans, Olduvai domains are repeated often dozens of times within these genes. The only other gene an Olduvai domain has been found in is mammalian myomegalin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF10
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. 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 Odontoblast Phenotype Gene Neighborhood NOTCH2NL, SEC22B, HFE2, TXNIP are close neighbors of NBPF10. All of these neighboring genes are well studied in their own right. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NBPF15
Neuroblastoma breakpoint family, member 15, also known as NBPF15, is a protein which in humans is encoded by the ''NBPF15'' gene. The gene is 18762 bp long, with mRNA that is 3837 bp long. The gene is located on chromosome 1q21.1. Its sub-cellular location is predicted to be in the nucleus and cytoplasm. It contains what is known as the NBPF repeat, which is a two-exon stretch of sequence that is characteristic of all 21 members of the NBPF gene family. The repeat is considered the ancestral exons, and the NBPF family has been linked to primate evolution. Function The function of NBPF16 is not fully understood. It is a member of the NBPF family of proteins, which have been linked to possible roles in oncogenesis and tumor suppressor genes. Protein The protein is composed of 670 amino acids. The gene contains five domains of unknown function, called DUF1220. DUF1220 domains are found in all members of the NBPF gene family, although the number differs between each member. Repe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myomegalin
Myomegalin, also known as phosphodiesterase 4D-interacting protein or cardiomyopathy-associated protein 2, is a protein that in humans is encoded by the ''PDE4DIP'' gene. It has roles in the formation of microtubules from the centrosome. Its name derives from the fact that it is highly expressed in units of tubular myofibrils known as sarcomeres and is a large protein, at 2,324 amino acids. It was first characterised in 2000. Structure and function Myomegalin is mostly composed of alpha-helix and coiled-coil structures and has domains shared with microtubule-associated proteins. It has several isoforms, at least two of which have been characterised, CM-MMG and EB-MMG. Myomegalin is necessary for the sufficient growth of microtubules from the centrosomes. The CM-MMG isoform binds at the centrosome with γ-tubulin in an AKAP9-dependent manner and on the near side of the Golgi apparatus, while the EB-MMG isoform binds with MAPRE1 at the Golgi apparatus and increases MAPRE1's ef ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuroblastoma
Neuroblastoma (NB) is a type of cancer that forms in certain types of nerve tissue. It most frequently starts from one of the adrenal glands but can also develop in the neck, chest, abdomen, or spine. Symptoms may include bone pain, a lump in the abdomen, neck, or chest, or a painless bluish lump under the skin. Typically, neuroblastoma occurs due to a genetic mutation occurring during early development. Rarely, it may be due to a mutation inherited from a person's parents. Environmental factors have not been found to be involved. Diagnosis is based on a tissue biopsy. Occasionally, it may be found in a baby by ultrasound during pregnancy. At diagnosis, the cancer has usually already spread. The cancer is divided into low-, intermediate-, and high-risk groups based on a child's age, cancer stage, and what the cancer looks like. Treatment and outcomes depends on the risk group a person is in. Treatments may include observation, surgery, radiation, chemotherapy, or stem cell t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Family
A gene family is a set of several similar genes, formed by duplication of a single original gene, and generally with similar biochemical functions. One such family are the genes for human hemoglobin subunits; the ten genes are in two clusters on different chromosomes, called the α-globin and β-globin loci. These two gene clusters are thought to have arisen as a result of a precursor gene being duplicated approximately 500 million years ago. Genes are categorized into families based on shared nucleotide or protein sequences. Phylogenetic techniques can be used as a more rigorous test. The positions of exons within the coding sequence can be used to infer common ancestry. Knowing the sequence of the protein encoded by a gene can allow researchers to apply methods that find similarities among protein sequences that provide more information than similarities or differences among DNA sequences. If the genes of a gene family encode proteins, the term '' protein family'' is often ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
