FAM166B


Family with Sequence Similarity 166, member B, or FAM166B, is an uncharacterized protein in humans that is encoded by the FAM166B gene.

Gene

The FAM166B gene is located on the short arm of chromosome 9 at 9p13.3 on the minus strand.[1] The genomic sequence spans 2,069 base pairs from 35563899 to 35561830. Gene neighbors are RUSC2, RPS29P17, and TESK1.

Location and Neighborhood of FAM166B on Chromosome 9

Expression

FAM166B is expressed 0.5 times higher than average in humans.[2] FAM166B is highly expressed in the adrenal gland, fallopian tube, and respiratory epithelial tissues. It is weakly to moderately expressed in skeletal muscle and heart muscle.[3][4][5]

Promoter

FAM166B is predicted to have a promoter that spans 680 bp and includes the 5' UTR.[6]

mRNA

In humans, FAM166B has 10 transcript variants, which are all spliced.[2] FAM166B transcript variant 1 is 1,092 bp in length and contains 6 total exons. The accession number for this variant is NM_001164310.[7]

Protein

The amino acid sequence is 275 amino acids in length and contains 3 DUF 2475 regions.[8] The three DUF2475 regions are located from amino acids 15 to 80, 174 to 234, and 234 to 261.The predicted molecular weight is 30.6 kdal with the predicted isoelectric point of 8.414.[9] It is known to have a higher than normal proline composition compared to other human proteins at 12.4%. The protein has a negative charged region from residues 141 to 172.[10]

1    MAVASTFIPGLNPQNPHYIPGYTGHCPLLRFSVGQTYGQVTGQLLRGPPGLAWPPVHRTLLPPIRPPRSP
71   EVPRESLPVRRGQERLSSSMIPGYTGFVPRAQFIFAKNCSQVWAEALSDFTHLHEKQGSEELPKEAKGRK
141  DTEKDQVPEPEGQLEEPTLEVVEQASPYSMDDRDPRKFFMSGFTGYVPCARFLFGSSFPVLTNQALQEFG
211  QKHSPGSAQDPKHLPPLPRTYPQNLGLLPNYGGYVPGYKFQFGHTFGHLTHDALGLSTFQKQLLA

Post-Translational Modifications

FAM166B is predicted to have 12 phosphorylation, 3 sumoylation, and 1 acetylation sites.[11][12][13] FAM166 has no predicted signal peptide sequences.[14]

Structure

FAM166B is predicted to be composed mostly of coils with short interspersed regions of alpha helices and beta sheets.[15] There are no predicted transmembrane domains and this is consistent through orthologs.[16]

Subcellular Localization

However, the intracellular location of FAM166B is unknown.[17][18] The average hydrophobicity of the protein is -0.519272, which suggests that it is a soluble protein.[16]

Homology

Orthologs

FAM166B has a number of orthologs in mammals, birds, reptiles, fish, and some invertebrates. The table below lists a number of FAM166B orthologs that were found using BLAST.[19] The table descending exhibits the diversity of species with FAM166B orthologs in descending order of identity.

Scientific NameCommon NameProtein Accession NumberSequence Length (aa)IdentitySimilarity
Homo SapiensHumanNP_001157782.1275
Camelus FerusBactrian CamelXP_006187942.127983%87%
Bos TaurusDomestic CowXP_005210130.130381%87%
Felis catusDomestic CatXP_003995654.128081%86%
Tursiops truncatusCommon Bottlenose DolphinXP_004312901.127480%86%
Elephantulus edwardiiCape Elephant ShrewXP_006887001.127580%86%
Mus MusculusMouseXP_006538075.127375%82%
Dasypus novemcinctusNine-banded armadilloXP_004457403.128675%82%
Equus caballusHorseXP_001914783.230075%80%
Monodelphis domesticaGray short-tailed opossumXP_007498869.129257%68%
Chelonia mydasGreen TurtleXP_007055984.125147%62%
Tinamus guttatusWhite-throated TinamuXP_010220019.130745%55%
Python bivittatusBurmese PythonXP_007427141.134042%56%
Xenopus tropicalisWestern Clawed FrogNP_001106452.130642%55%
Anolis carolinesisCarolina AnoleXP_003228316.131440%53%
Danio rerioZebrafishNP_001076489.229939%52%
Poecilia formosaAmazon MollyXP_007566989.126234%50%
Ciona intestinalisVase TunicateXP_002129379.133030%42%
Picoides pubescensDowny WoodpeckerXP_009895146.129626%41%
Hydra vulgarisFreshwater PolypXP_002162128.128226%41%
Saccoglossus kowalevskiiAcorn WormXP_002739701.133224%41%
Stronglyocentrotus purpuratusPurple Sea UrchinXP_786484.333324%40%

Paralogs

FAM166B has one paralog, FAM166A, which spans 317 aa and has a 25% identity.[20] The accession number for FAM166A is NP_001001710.

Clinical Significance

Diseases

Currently, FAM166 is not associated within a human disease or condition. Despite being located on Spastic paraplegia 46, a locus on chromosome 9, that is known to cause an autosomal-recessive disease called hereditary spastic paraplegia (HSP), FAM166B was determined not to be the gene responsible for the disease due to its frequency in the population controls.[21] FAM166B was excluded from a patent looking for genes that are prognosis predictors for classic Hodgkin's lymphoma (cHL).[22]

References
  1. "NCBI Gene".
  2. "AceView, NCBI".
  3. "NCBI UniGene: FAM166B".
  4. "Human Protein Atlas: FAM166B".
  5. Gaudet, P; Argout-Put, G; Cusin, I; et al. (December 3, 2013). "neXtProt: Organizing Protein Knowledge in the Context of Human Proteome Projects". Journal of Proteome Research. 12 (1): 293–298. doi:10.1021/pr300830v. PMID 23205526.
  6. "Genomatix ElDorado".
  7. "NCBI Nucleotide". 30 June 2018. {{cite journal}}: Cite journal requires |journal= (help)
  8. "NCBI Protein: FAM166B". Retrieved 28 Feb 2015.
  9. "Biology Workbench 3.2".
  10. Brendel, V; Nourbakhsh, I.R.; Blaisdell, B.E. (March 1992). "Methods and algorithms for statistical analysis of protein sequences". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2002–2006. Bibcode:1992PNAS...89.2002B. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.
  11. "Net Phos 2.0".
  12. "NetAcet".
  13. "SUMOplot".
  14. "SignalP".
  15. "Biology Workbench 3.2: PELE".
  16. "SOSUI".
  17. "The Human Protein Atlas".
  18. "COMPARTMENTS: FAM166B".
  19. "NCBI BLAST".
  20. "NCBI Protein: FAM166A".
  21. Martin, E; Schule, R; Smets, K; et al. (2013). "Loss of Function of Glucocerebrosidase GBA2 is responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia". American Journal of Human Genetics. 92 (2): 238–244. doi:10.1016/j.ajhg.2012.11.021. PMC 3567271. PMID 23332916.
  22. Gascoyne, R; Steidl, C; Scott, D. "Predicting prognosis in Classic Hodgkin Lymphoma". {{cite journal}}: Cite journal requires |journal= (help)
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.