FAM131A

edit

FAM131A (Family with Sequence Similarity 131 Member A) is a protein that is encoded by the FAM131A gene in humans. Aliases for FAM131A include C3orf40, FLAT715, and PRO1378.[1]

Gene

edit
 
Conceptual Translation of Human FAM131A. Annotations indicate start codon, exon boundaries, polyadenylation signals, polyadenylation sites, disordered region, region excluded from isoform 2, and stop codon. Amino acids conserved from distant orthologs are bolded.

The gene, FAM131A, which is found on the plus strand of chromosome 3 (3q27.1), spans 7,847 base pairs in humans.[2] The FAM131A gene transcribes an mRNA sequence that is 2,437 nucleotides.[3] FAM131A is most highly expressed in the brain[4], with a low tissue specificity.[5][6]

Protein

edit

The FAM131A protein in humans is 366 amino acids in length, with a theoretical molecular weight of 39.5 kDa and a theoretical isoelectric point of 4.59.[7] There has only been two isoforms found for the protein this gene encodes in humans, and isoform two is shorter at the N-terminus than isoform one due to amino acids 1-85 being absent in isoform two.[8] It was also determined that Asparagine, Threonine, and Isoleucine are represented less in the FAM131A protein in comparison to most human proteins. However, Serine is more highly represented in the FAM131A protein in comparison to most human proteins.[9] The FAM131A protein is predicted to be contained within nucleus and in the nucleolus[10][11], and is predicted to be primarily localized to the nucleoli rim within the cell.[12]

 
Predicted tertiary structure of human FAM131A protein from AlphaFold.[13]

Post-Translational Modifications

edit

Five different post-translational modification cites have been predicted for the FAM131A protein. These include three different theoretical sumolyation sites[14] and two different theoretical lysine acetylation sites.[15]

Interacting Proteins

edit

A few proteins have been found to be co-expressed alongside the FAM131 protein, including Von Willebrand Factor A Domain-Containing 5B2 (VWA5B2)[16], Grid 2 Interacting Protein (GRID2IP)[17], and Chordin (CHRD).[18][19]

Homology

edit
 
Multiple sequence alignment of FAM131 in distant orthologs

Orthologs were found for FAM131A in mammals (sequence identity ranging from 73.6%-92.3%), reptiles (sequence identity ranging from 48.5%-56.4%), birds (sequence identity ranging from 49.6%-54.0%), amphibians (sequence identity ranging from 47.1%-52.1%), and fish (sequence identity ranging from 26.2%-56.5%).[20] The furthest date of divergence was found in fish, specifically Pretromyzon marinus, otherwise known as the Sea lamprey, at 599 million years ago.[21] FAM131A was not found in any invertebrates, which could indicate that FAM131A is restricted to vertebrates.

Table of Orthologs

edit
Species Name Common Name Date of Divergence (mya) Accession Number Sequence Length (AA) Sequence Identity to Human Protein
Homo sapiens Humans 0 NP_653236 366 100%
Mus musculus House mouse 87 NP_598539 361 92.3%
Phascolarctos cinereus Koala 160 XP_020861440 362 73.6%
Sarcophilus harrisii Tasmanian devil 160 XP_031823960 283 64.1%
Alligator mississippiensis American alligator 319 XP_019339708 324 56.4%
Gallus gallus Chicken 319 XP_003641841 338 54.0%
Haliaeetus leucocephalus Bald eagle 319 XP_010571279 275 49.6%
Aptenodytes forsteri Emporer penguin 319 XP_009286349 275 49.6%
Python bivittatus Burmese python 319 XP_025029736 302 48.5%
Rhinatrema bivittatum Two-lined caecilian 353 XP_029472185 290 52.1%
Xenopus tropicalis Tropical clawed frog 353 XP_004914460 344 50.0%
Rana temporaria Common frog 353 XP_040205721 348 47.6%
Bufo bufo Common toad 353 XP_040284457 261 47.1%
Protopterus annectens West African lungfish 408 XP_043926343.1 361 56.5%
Danio rerio Zebrafish 431 NP_001093625 293 43.4%
Oryzias latipes Japanese rice fish 431 XP_004079308 338 34.4%
Cheilinus undulatus Humphead wrasse 431 XP_041660114 318 31.4%
Amblyraja radiata Thorny skate 464 XP_032888076 380 51.8%
Petromyzon marinus Sea lamprey 599 XP_032802778 383 26.2%

Clinical Significance

edit

Studies have found having high expression of FAM131A is prognostically unfavorable for patients with ovarian cancer[22] or endometrial cancer[23]

References

edit
  1. ^ "FAM131A family with sequence similarity 131 member A [ Homo sapiens (human) ]". www.ncbi.nlm.nih.gov. Retrieved 2022-12-14.
  2. ^ "Human Gene FAM131A (ENST00000639617.1) from GENCODE V41". genome.ucsc.edu. Retrieved 2022-12-16.
  3. ^ "Homo sapiens family with sequence similarity 131 member A (FAM131A), transcript variant 1, mRNA". 2021-06-26. {{cite journal}}: Cite journal requires |journal= (help)
  4. ^ "FAM131A Gene Expression - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  5. ^ "Tissue Cell Type - FAM131A - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-12-16.
  6. ^ Uhlén, Mathias; Fagerberg, Linn; Hallström, Björn M.; Lindskog, Cecilia; Oksvold, Per; Mardinoglu, Adil; Sivertsson, Åsa; Kampf, Caroline; Sjöstedt, Evelina; Asplund, Anna; Olsson, IngMarie; Edlund, Karolina; Lundberg, Emma; Navani, Sanjay; Szigyarto, Cristina Al-Khalili (2015-01-23). "Tissue-based map of the human proteome". Science. 347 (6220): 1260419. doi:10.1126/science.1260419. ISSN 0036-8075.
  7. ^ "Expasy - Compute pI/Mw tool". web.expasy.org. Retrieved 2022-12-15.
  8. ^ "protein FAM131A isoform 2 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  9. ^ "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-12-15.
  10. ^ "PSORT II Prediction". psort.hgc.jp. Retrieved 2022-12-15.
  11. ^ "DeepLoc - 2.0". DTU Health Tech. Retrieved 2022-12-14.
  12. ^ "FAM131A protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-12-14.
  13. ^ "AlphaFold Protein Structure Database". alphafold.ebi.ac.uk. Retrieved 2022-12-15.
  14. ^ "GPS-SUMO: Prediction of SUMOylation Sites & SUMO-interaction Motifs". sumosp.biocuckoo.org. Retrieved 2022-12-16.
  15. ^ "GPS-PAIL 2.0 - Prediction of Acetylation on Internal Lysines". pail.biocuckoo.org. Retrieved 2022-12-16.
  16. ^ Direk, Kenan; Lau, Winston; Small, Kerrin S.; Maniatis, Nikolas; Andrew, Toby (2014-08-12). "ABCC5 Transporter is a Novel Type 2 Diabetes Susceptibility Gene in European and African American Populations". Annals of Human Genetics. 78 (5): 333–344. doi:10.1111/ahg.12072. ISSN 0003-4800. PMC 4173130. PMID 25117150.{{cite journal}}: CS1 maint: PMC format (link)
  17. ^ Lee, Eunkyung; Takita, Cristiane; Wright, Jean L.; Slifer, Susan H.; Martin, Eden R.; Urbanic, James J.; Langefeld, Carl D.; Lesser, Glenn J.; Shaw, Edward G.; Hu, Jennifer J. (2019-06-13). "Genome-wide enriched pathway analysis of acute post-radiotherapy pain in breast cancer patients: a prospective cohort study". Human Genomics. 13 (1): 28. doi:10.1186/s40246-019-0212-8. ISSN 1479-7364. PMC 6567461. PMID 31196165.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  18. ^ Wang, Yi Fang; Yan, Jia Jiun; Tseng, Yung Che; Chen, Ruo Dong; Hwang, Pung Pung (2015-08-15). "Molecular physiology of an extra-renal Cl- uptake mechanism for body fluid Cl- homeostasis". International Journal of Biological Sciences. 11 (10): 1190–1203. doi:10.7150/ijbs.11737. ISSN 1449-2288. PMID 26327813.
  19. ^ "FAM131A protein (human) - STRING interaction network". string-db.org. Retrieved 2022-12-16.
  20. ^ "EMBOSS Needle < Pairwise Sequence Alignment < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-12-16.
  21. ^ "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2022-12-16.
  22. ^ Zhao, Min; Wang, Tianfang; Liu, Qi; Cummins, Scott (2017-07-04). "Copy number alteration of neuropeptides and receptors in multiple cancers". Scientific Reports. 7 (1): 4598. doi:10.1038/s41598-017-04832-0. ISSN 2045-2322.
  23. ^ Uhlén, Mathias; Björling, Erik; Agaton, Charlotta; Szigyarto, Cristina Al-Khalili; Amini, Bahram; Andersen, Elisabet; Andersson, Ann-Catrin; Angelidou, Pia; Asplund, Anna; Asplund, Caroline; Berglund, Lisa; Bergström, Kristina; Brumer, Harry; Cerjan, Dijana; Ekström, Marica (2005-12-01). "A Human Protein Atlas for Normal and Cancer Tissues Based on Antibody Proteomics". Molecular & Cellular Proteomics. 4 (12): 1920–1932. doi:10.1074/mcp.M500279-MCP200. ISSN 1535-9476.{{cite journal}}: CS1 maint: unflagged free DOI (link)

Category:Uncharacterized proteins