FAM131A

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
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q27.1 Start 184,335,926 bp [1] End 184,348,421 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16 A3|16 Start 20,511,991 bp [2] End 20,521,798 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex right frontal lobe secondary oocyte dorsolateral prefrontal cortex Brodmann area 9 middle temporal gyrus orbitofrontal cortex Brodmann area 46 right hemisphere of cerebellum cingulate gyrus Top expressed in dentate gyrus of hippocampal formation granule cell primary visual cortex superior frontal gyrus hippocampus proper spermatid primary motor cortex subiculum muscle of thigh prefrontal cortex cingulate gyrus More reference expression data BioGPS n/a
Orthologs Species Human Mouse 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 Mb Chr 16: 20.51 – 20.52 Mb PubMed search [3] [4]
Wikidata
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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]

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.

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.

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.

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 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

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

References

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