Английская Википедия:FAM86B1

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gif of FAM86B1 protein structure predicted by AlphaFold. Shows the FAM86 domain, the smaller of the two protein domains and consisting of several alpha helices, and the AdoMet MTases domain, consisting of a beta sheet surrounded by a few alpha helices, as well as the separation of the two domains, which have a thin and flexible link, making the protein roughly form a "S" shape.

FAM86B1 protein structure from AlphaFold. Colored red for alpha helices, yellow for beta sheet, green for peroxisomal targeting signal, and blue for other coils. Created using NCBI iCn3D protein visualizer.

FAM86B1 is a protein, which in humans is encoded by the FAM86B1 gene. FAM86B1 is an essential gene in humans. The protein contains two domains: FAM86, and AdoMet-MTase.

FAM86B1 homologs are found in most eukaryotes, from mammals to plants such as wild soybean.

Gene

FAM86B1 in the human genome is located at 8p23.1, spanning about 12,000 base pairs. FAM86B1 contains 9 exons.

8p23.1 is the location of one of the largest and most common genetic inversions in humans. FAM86B1 is upregulated in inv-8p23.1. In the non-inverted allele 8p23.1, FAM86B1 is on the negative strand. In the allele inv-8p23.1, FAM86B1 is on the positive strand.

Production

In humans, there are 20 alternative splicings of FAM86B1, and 19 mRNA transcripts. In humans, FAM86B1 is expressed ubiquitously, and most strongly in brain tissues and the pituitary gland.

Protein

The human FAM86B1 protein contains two domains, FAM86 and AdoMet-MTase, making FAM86B1 a member of these two protein families. The human FAM86B1 gene encodes 13 protein isoforms. FAM86B1 is a non-classically secreted protein, targeted to the peroxisome by a C-terminus signal.

FAM86B1 interacts with ubiquitin-C and FAM86C1.

Evolution

FAM86B1 homologs are seen in most eukaryotes, but are not found in distant plants, such as green algae. Wild soybean is the most distant species from humans with a FAM86B1 homolog.

FAM86B1 in humans is paralogous with other FAM86 protein-coding genes.

Human FAM86 protein-coding genes

Gene symbol	Gene location	NCBI gene ID
EEF2KMT	16p13.3	196483
FAM86B1	8p23.1	85002
FAM86B2	8p23.1	653333
FAM86B3	8p23.1	286042
LOC128966622	8p23.1	128966622
FAM86C1	11q13.4	55199
FAM86C2	11q13.2	645332

Clinical significance

Cancer

Alternative splicings of FAM86B1 are associated with decreased relapse in rectal cancer and surviving longer in glioblastoma. In bladder urothelial carcinoma, a differing FAM86B1 expression pattern compared to noncancer controls is associated with surviving longer. In glioma, lower survival rates are associated with downregulation of FAM86B1. Loss of FAM86B1 expression is associated with uterine carcinosarcoma, prostate adenocarcinoma, and bladder urothelial carcinoma.

Infection

Severe respiratory syncytial virus bronchiolitis is associated with downregulation of FAM86B1. Enterovirus-71, a positive-sense single-stranded RNA virus, binds to FAM86B1. FAM86B1 is upregulated after exposure to the infection agent of Candida albicans.

Inflammation

FAM86B1 is upregulated after exposure to oS100A4, a potential trigger of inflammation in rheumatoid arthritis. FAM86B1 is downregulated after remote ischemic preconditioning, which inhibits inflammation regulation.