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FAM166B

From Wikipedia, the free encyclopedia

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

Gene

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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

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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

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

mRNA

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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

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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

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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

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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

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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

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Orthologs

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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 Name Common Name Protein Accession Number Sequence Length (aa) Identity Similarity
Homo Sapiens Human NP_001157782.1 275
Camelus Ferus Bactrian Camel XP_006187942.1 279 83% 87%
Bos Taurus Domestic Cow XP_005210130.1 303 81% 87%
Felis catus Domestic Cat XP_003995654.1 280 81% 86%
Tursiops truncatus Common Bottlenose Dolphin XP_004312901.1 274 80% 86%
Elephantulus edwardii Cape Elephant Shrew XP_006887001.1 275 80% 86%
Mus Musculus Mouse XP_006538075.1 273 75% 82%
Dasypus novemcinctus Nine-banded armadillo XP_004457403.1 286 75% 82%
Equus caballus Horse XP_001914783.2 300 75% 80%
Monodelphis domestica Gray short-tailed opossum XP_007498869.1 292 57% 68%
Chelonia mydas Green Turtle XP_007055984.1 251 47% 62%
Tinamus guttatus White-throated Tinamu XP_010220019.1 307 45% 55%
Python bivittatus Burmese Python XP_007427141.1 340 42% 56%
Xenopus tropicalis Western Clawed Frog NP_001106452.1 306 42% 55%
Anolis carolinesis Carolina Anole XP_003228316.1 314 40% 53%
Danio rerio Zebrafish NP_001076489.2 299 39% 52%
Poecilia formosa Amazon Molly XP_007566989.1 262 34% 50%
Ciona intestinalis Vase Tunicate XP_002129379.1 330 30% 42%
Picoides pubescens Downy Woodpecker XP_009895146.1 296 26% 41%
Hydra vulgaris Freshwater Polyp XP_002162128.1 282 26% 41%
Saccoglossus kowalevskii Acorn Worm XP_002739701.1 332 24% 41%
Stronglyocentrotus purpuratus Purple Sea Urchin XP_786484.3 333 24% 40%

Paralogs

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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

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Diseases

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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

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  1. ^ "NCBI Gene".
  2. ^ a b "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". Archived from the original on 2001-02-24.
  7. ^ "NCBI Nucleotide". 30 June 2018.
  8. ^ "NCBI Protein: FAM166B". Retrieved 28 Feb 2015.
  9. ^ "Biology Workbench 3.2".[permanent dead link]
  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".[permanent dead link]
  16. ^ a b "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)