FAM131A

Last updated
FAM131A
Identifiers
Aliases FAM131A , C3orf40, FLAT715, PRO1378, family with sequence similarity 131 member A
External IDs MGI: 1925658; HomoloGene: 82234; GeneCards: FAM131A; OMA:FAM131A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mb Chr 16: 20.51 – 20.52 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Contents

Gene

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. HSa FAM131A Conceptual Translation.pdf
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

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. Predicted Structure of FAM131A.png
Predicted tertiary structure of human FAM131A protein from AlphaFold.

Post-translational modifications

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

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

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. MSA for Wiki-2 of FAM131A.pdf
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

Species NameCommon NameDate of Divergence (mya)Accession NumberSequence Length (AA)Sequence Identity to Human Protein
Homo sapiens Humans0NP_653236366100%
Mus musculus House mouse87NP_59853936192.3%
Phascolarctos cinereus Koala160XP_02086144036273.6%
Sarcophilus harrisii Tasmanian devil160XP_03182396028364.1%
Alligator mississippiensis American alligator319XP_01933970832456.4%
Gallus gallus Chicken319XP_00364184133854.0%
Haliaeetus leucocephalus Bald eagle319XP_01057127927549.6%
Aptenodytes forsteri Emporer penguin319XP_00928634927549.6%
Python bivittatus Burmese python319XP_02502973630248.5%
Rhinatrema bivittatum Two-lined caecilian353XP_02947218529052.1%
Xenopus tropicalis Tropical clawed frog353XP_00491446034450.0%
Rana temporaria Common frog353XP_04020572134847.6%
Bufo bufo Common toad353XP_04028445726147.1%
Protopterus annectens West African lungfish408XP_043926343.136156.5%
Danio rerio Zebrafish431NP_00109362529343.4%
Oryzias latipes Japanese rice fish431XP_00407930833834.4%
Cheilinus undulatus Humphead wrasse431XP_04166011431831.4%
Amblyraja radiata Thorny skate464XP_03288807638051.8%
Petromyzon marinus Sea lamprey599XP_03280277838326.2%

Clinical significance

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

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000175182 Ensembl, May 2017
  2. 1 2 3 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.