BPIFB6 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | BPIFB6 , BPIL3, LPLUNC6, BPI fold containing family B member 6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 614110 MGI: 2684965 HomoloGene: 18375 GeneCards: BPIFB6 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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BPI fold containing family B, member 6 (BPIFB6), also known as bactericidal/permeability-increasing protein-like 3 (BPIL3), is a protein that in humans is encoded by the BPIFB6 gene, also known as BPIL3 and LPLUNC6. It is expressed at high levels in hypertrophic tonsils, [5] at relatively moderate levels in oronasal epithelium including nasal mucosa, tongue, and salivary gland, as well as esophageal mucosa at lesser levels. [6] Orthologs are present in many vertebrate species including mammals, birds, reptiles, and amphibians. [7]
BPIFB6 is a member of a BPI fold protein superfamily defined by the presence of the bactericidal/permeability-increasing protein fold (BPI fold) which is formed by two similar domains in a "boomerang" shape. [8] This superfamily is also known as the BPI/LBP/PLUNC family or the BPI/LPB/CETP family. [9] The BPI fold creates apolar binding pockets that can interact with hydrophobic and amphipathic molecules, such as the acyl carbon chains of lipopolysaccharide found on Gram-negative bacteria, but members of this family may have many other functions.
Genes for the BPI/LBP/PLUNC superfamily are found in all vertebrate species, including distant homologs in non-vertebrate species such as insects, mollusks, and roundworms. [10] [11] Within that broad grouping is the BPIF gene family whose members encode the BPI fold structural motif and are found clustered on a single chromosome, e.g., Chromosome 20 in humans, Chromosome 2 in mouse, Chromosome 3 in rat, Chromosome 17 in pig, Chromosome 13 in cow. The BPIF gene family is split into two groupings, BPIFA and BPIFB. In humans, BIPFA consists of 3 protein encoding genes BPIFA1 , BPIFA2 , BPIFA3 , and 1 pseudogene BPIFA4P ; while BPIFB consists of 5 protein encoding genes BPIFB1 , BPIFB2 , BPIFB3 , BPIFB4 , BPIFB6 and 2 pseudogenes BPIFB5P , BPIFB9P . What appears as pseudogenes in humans may appear as fully functional genes in other species.
The BPIFB6 gene was first identified in humans as BPIL3 based on sequence homology [5] and was immediately recognized to be a member of the BPI fold gene superfamily.
BPIFB6 may function as a regulator of secretory pathway trafficking within cells, which in turn may help regulate virus infections. BPIFB6 has been assumed to be a secreted protein, based on the similarity of its gene sequence to other family members that are secreted. [12] But it has been demonstrated in one study to be located in the endoplasmic reticulum (ER). [13] The ER exists as a network of sheets and tubules and BPIFB6 was found to localize primarily to ER sheets where it interacts with two other PBI fold family members, BPIFB2 and BPIFB3. Further, silencing of the BPIFB6 gene caused dramatic changes in the morphology of the Golgi complex, Golgi fragmentation, and disruption of normal cytoplasmic vesicles. This all points to a role for BPIFB6 in secretory pathway trafficking, which was further illustrated by its effects on viral replication. Viruses such as coxsackievirus B (CVB) and poliovirus (PV) co-opt the host cell's secretory pathway, which controls the transport of proteins from the endoplasmic reticulum to the Golgi complex, to facilitate their replication. When the BPIFB6 gene was silenced, CVB and PV replication was blocked.
BPIFB6's association with mucosa containing tissues re-emerged in a study of biomarkers in rectal cancer. In an epigenome-wide analysis of DNA methylation, BPIB6/BPIL3 was one of two genes were significantly hypomethylated. [14] Also, tonsils which are mucosal lymphatic tissues, can become enlarged (hypertrophic) following inflammation from infection and recurrent pharyngitis (sore throat). Hypertrophic tonsils have been shown to have highly elevated expression of BPIFB6/BPIL3. [5]
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs and representing almost eight percent of the total DNA in human cells.
Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs. Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 66 million base pairs.
Lipopolysaccharide binding protein (LBP) is a protein that in humans is encoded by the LBP gene.
BPI fold containing family A, member 1 (BPIFA1), also known as Palate, lung, and nasal epithelium clone (PLUNC), is a protein that in humans is encoded by the BPIFA1 gene. It was also formerly known as "Secretory protein in upper respiratory tracts" (SPURT). The BPIFA1 gene sequence predicts 4 transcripts ; 3 mRNA variants have been well characterized. The resulting BPIFA1 is a secreted protein, expressed at very high levels in mucosa of the airways and salivary glands; at high levels in oropharyneal epithelium, including tongue and tonsils; and at moderate levels many other tissue types and glands including pituitary, testis, lung, bladder, blood, prostate, pancreas, levels in the digestive tract and pancreas. The protein can be detected on the apical side of epithelial cells and in airway surface liquid, nasal mucus, and sputum.
Membrane-bound transcription factor site-1 protease, or site-1 protease (S1P) for short, also known as subtilisin/kexin-isozyme 1 (SKI-1), is an enzyme that in humans is encoded by the MBTPS1 gene. S1P cleaves the endoplasmic reticulum loop of sterol regulatory element-binding protein (SREBP) transcription factors.
Transmembrane emp24 domain-containing protein 10 is a protein that in humans is encoded by the TMED10 gene.
Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene. Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in LMAN1 gene also cause F5F8D.
BPI fold-containing family B, member 2, (BPIFB2) also known as bactericidal/permeability-increasing protein-like 1, is a protein that in humans is encoded by the BPIFB2 gene.
In molecular biology, the lipid-binding serum glycoproteins family, also known as the BPI/LBP/Plunc family or LBP/BPI/CETP family represents a family which includes mammalian lipid-binding serum glycoproteins and/or proteins containing a structural motif known as the BPI fold. Members of this family include:
BPI fold containing family A, member 3 (BPIFA3) is a protein that in humans is encoded by the BPIFA3 gene. The gene is also known as SPLUNC3 and C20orf71 in humans and the orthologous gene in mice is 1700058C13Rik. There are multiple variants of the BPIFA3 projected to be a secreted protein. It is very highly expressed in testis with little or no expression in other tissues. The Human Protein Atlas project and Mouse ENCODE Consortium report RNA-Seq expression at RPKM levels of 29.1 for human testis and 69.4 for mouse, but 0 for all other tissues. Similarly, the Bgee consortium, using multiple techniques in addition to RNA-Seq, reports a relative Expression Score of 95.8 out of 100 for testis and 99.0 for sperm in humans; however low levels of BPIFA3 between 20 and 30 were seen for a variety of tissues such as muscle, glands, prostate, nervous system, and skin.
The FAM185A is a protein that in humans is encoded by the FAM185A gene. The FAM185A gene is found on the positive strand of Chromosome 7 at 7q22.1. The gene begins 102,389,399bp from the p-terminus of the chromosome and ends at 102,449,672bp from the p-terminus; it covers a total of 73,308 basepairs. The protein encoded by this gene is characterized by the presence of multiple copies of DUF4098 near its C-terminus. It is described as a Long Interspersed Nuclear Element (LINE), a subclass of penaeid repetitive elements (PREs).
Tetratricopeptide repeat protein 39B is a protein that in humans is encoded by the TTC39B gene. TTC39B is also known as C9orf52 or FLJ33868. The main feature within tetratricopeptide repeat 39B is the domain of unknown function 3808 (DUF3808), spanning the majority of the protein.
BPI fold containing family B, member 4 (BPIFB4) is a protein that in humans is encoded by the BPIFB4 gene. It was formerly known as "Long palate, lung and nasal epithelium carcinoma-associated protein 4" encoded by the LPLUNC4 gene. The BPIFB4 gene sequence predicts 4 transcripts ; 3 isoforms have been well characterized. In a variety of mammals, BPIFB4 is generally expressed in very high levels in the olfactory epithelium, high levels in the gonads and pituitary, moderate levels in white blood cells (monocytes) It can occur either localized in the cytoplasm of cells or secreted and circulated systemically in blood plasma.
BPI fold-containing family B member 1 (BPIFB1) is a protein that in humans is encoded by the BPIFB1 gene. BPIFB1 is a secreted protein, expressed at very high levels in mucosa of the airways and salivary glands, and at moderate levels in the digestive tract and pancreas.
Golgin A8 family member A is a protein that in humans is encoded by the GOLGA8A gene.
BPI fold containing family B, member 3 (BPIFB3) is a protein that in humans is encoded by the BPIFB3 gene. Two variants have been detected in humans.
BPI fold containing family B, member 5 is a non-human protein encoded by the Bpifb5 gene, also known as Lplunc5. The BPIFB5 protein and Bpifb5 gene have been characterized in mammals such as rodents and even-toed ungulates but are apparently lacking in primates and other vertebrates such as birds, reptiles, and amphibians. The protein in rodents is expressed at moderately high levels in mucosa of the airways and at moderate levels in salivary glands, esophagus, and gonads ; in even-toed ungulates expression is high in testis, moderate in brain and striated muscle, and low in kidney.
Vomeromodulin is a non-human protein also known as BPI fold containing family B, member 9 (BPIFB9) in the rat encoded by the Bpifb9/RYF3 gene, and as BPI fold containing family B, member 9A (BPIFB9A) encoded by the Bpifb9a gene in the mouse. This protein has been characterized in mammals such as rodents, carnivores, even-toed ungulates, insectivores, bats, lagomorphs, and shrews but is apparently absent in primates and other vertebrates such as birds, reptiles, and amphibians. Its function is associated with detection of chemical odorant pheromone molecules.
BPI fold containing family A, member 2 (BPIFA2), also known as Parotid Secretory Protein (PSP), is a protein that in humans is encoded by the BPIFA2 gene. The BPIFA2 gene sequence predicts multiple transcripts ; 2 mRNA variants have been well characterized. The resulting BPIFA2 is a secreted protein, expressed at very high levels in the parotid (salivary) gland; at high levels in oropharyngeal mucosa, including tongue; and at moderate levels many other tissue types and glands including mammary gland, testis, lung, bladder, blood, prostate, adrenal gland, kidney, and pancreas.
BPI fold containing family A, member 4 (BPIFA4) is a non-human protein encoded by the Bpifa4 gene in mammals such as monkey, cat, and cow but does not appear in rodents and humans. It is also known as Latherin in horse, encoded by the Lath/Bpifa4 gene but is somewhat divergent from the other species. Latherin/BPIFA4 is a secreted protein found in saliva and sweat.
See: Results by taxon
See: Subcellular Localization