Wikipedia

FAM131A

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.[5]

FAM131A
Identifiers
AliasesFAM131A, C3orf40, FLAT715, PRO1378, family with sequence similarity 131 member A
External IDsMGI: 1925658; HomoloGene: 82234; GeneCards: FAM131A; OMA:FAM131A - orthologs
Orthologs
SpeciesHumanMouse
Entrez

131408

78408

Ensembl

ENSG00000175182

ENSMUSG00000050821

UniProt

Q6UXB0

Q8BWU3

RefSeq (mRNA)

NM_001171093
NM_144635
NM_001366133
NM_001366134

NM_133778

RefSeq (protein)

NP_001164564
NP_653236
NP_001353062
NP_001353063

NP_598539

Location (UCSC)Chr 3: 184.34 – 184.35 MbChr 16: 20.51 – 20.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

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The gene, FAM131A, which is found on the plus strand of chromosome 3 (3q27.1), spans 7,847 base pairs in humans.[6] The FAM131A gene transcribes an mRNA sequence that is 2,437 nucleotides.[7] FAM131A is most highly expressed in the brain,[8] with a low tissue specificity.[9][10]

 
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.

Protein

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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.[11] There have 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.[12] 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.[13] The FAM131A protein is predicted to be contained within the nucleus and in the nucleolus,[14][15] and is predicted to be primarily localized to the nucleoli rim within the cell.[16]

 
Predicted tertiary structure of human FAM131A protein from AlphaFold.[17]

Post-translational modifications

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Five different post-translational modification sites have been predicted for the FAM131A protein. These include three different theoretical sumoylation sites[18] and two different theoretical lysine acetylation sites.[19]

Interacting proteins

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A few proteins have been found to be co-expressed alongside the FAM131 protein, including Von Willebrand Factor A Domain-Containing 5B2 (VWA5B2),[20] Grid 2 Interacting Protein (GRID2IP),[21] and Chordin (CHRD).[22][23]

Homology

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Multiple sequence alignment of FAM131 in distant orthologs. The consensus sequences indicate highly conserved amino acids with an uppercase letter, moderately conserved amino acids with a lowercase letter, and low conservation of an amino acid with a dot.

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%).[24] The furthest date of divergence was found in fish, specifically Pretromyzon marinus, otherwise known as the Sea lamprey, at 599 million years ago.[25] FAM131A was not found in any invertebrates, which could indicate that FAM131A is restricted to vertebrates.

Table of orthologs

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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

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Studies have found having high expression of FAM131A is prognostically unfavorable for patients with ovarian cancer[26] or endometrial cancer.[27]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000175182 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050821 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "FAM131A family with sequence similarity 131 member A [ Homo sapiens (human) ]". www.ncbi.nlm.nih.gov. Retrieved 2022-12-14.
  6. ^ "Human Gene FAM131A (ENST00000639617.1) from GENCODE V41". genome.ucsc.edu. Retrieved 2022-12-16.
  7. ^ "Homo sapiens family with sequence similarity 131 member A (FAM131A), transcript variant 1, mRNA". 2021-06-26.
  8. ^ "FAM131A Gene Expression - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  9. ^ "Tissue Cell Type - FAM131A - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-12-16.
  10. ^ Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, et al. (January 2015). "Proteomics. Tissue-based map of the human proteome". Science. 347 (6220): 1260419. doi:10.1126/science.1260419. PMID 25613900. S2CID 802377.
  11. ^ "Expasy - Compute pI/Mw tool". web.expasy.org. Retrieved 2022-12-15.
  12. ^ "protein FAM131A isoform 2 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-16.
  13. ^ "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-12-15.
  14. ^ "PSORT II Prediction". psort.hgc.jp. Retrieved 2022-12-15.
  15. ^ "DeepLoc - 2.0". DTU Health Tech. Retrieved 2022-12-14.
  16. ^ "FAM131A protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-12-14.
  17. ^ "AlphaFold Protein Structure Database". alphafold.ebi.ac.uk. Retrieved 2022-12-15.
  18. ^ "GPS-SUMO: Prediction of SUMOylation Sites & SUMO-interaction Motifs". sumosp.biocuckoo.org. Archived from the original on 2018-05-06. Retrieved 2022-12-16.
  19. ^ "GPS-PAIL 2.0 - Prediction of Acetylation on Internal Lysines". pail.biocuckoo.org. Retrieved 2022-12-16.
  20. ^ Direk K, Lau W, Small KS, Maniatis N, Andrew T (September 2014). "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. PMC 4173130. PMID 25117150.
  21. ^ Lee E, Takita C, Wright JL, Slifer SH, Martin ER, Urbanic JJ, et al. (June 2019). "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. PMC 6567461. PMID 31196165.
  22. ^ Wang YF, Yan JJ, Tseng YC, Chen RD, Hwang PP (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. PMC 4551755. PMID 26327813.
  23. ^ "FAM131A protein (human) - STRING interaction network". string-db.org. Retrieved 2022-12-16.
  24. ^ "EMBOSS Needle < Pairwise Sequence Alignment < EMBL-EBI". www.ebi.ac.uk. Retrieved 2022-12-16.
  25. ^ "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2022-12-16.
  26. ^ Zhao M, Wang T, Liu Q, Cummins S (July 2017). "Copy number alteration of neuropeptides and receptors in multiple cancers". Scientific Reports. 7 (1): 4598. Bibcode:2017NatSR...7.4598Z. doi:10.1038/s41598-017-04832-0. PMC 5496884. PMID 28676692.
  27. ^ Uhlén M, Björling E, Agaton C, Szigyarto CA, Amini B, Andersen E, et al. (December 2005). "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. PMID 16127175.
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