FAM3C

FAM3C
Identifiers
Aliases	FAM3C , ILEI, GS3786, family with sequence similarity 3 member C, FAM3 metabolism regulating signaling molecule C
External IDs	OMIM: 608618; MGI: 107892; HomoloGene: 8926; GeneCards: FAM3C; OMA:FAM3C - orthologs
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7q31.31 Start 121,348,878 bp [1] End 121,396,364 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6 A3.1|6 9.24 cM Start 22,306,519 bp [2] End 22,356,242 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa Achilles tendon Pons duodenum lateral nuclear group of thalamus germinal epithelium pericardium vulva endometrium mucosa of sigmoid colon Top expressed in neural layer of retina molar semi-lunar valve cumulus cell aortic valve epithelium of stomach ascending aorta Ileal epithelium urothelium mucous cell of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytokine activity protein binding Cellular component extracellular exosome cytoplasmic vesicle platelet dense granule lumen extracellular region extracellular space Golgi apparatus Biological process multicellular organism development platelet degranulation regulation of signaling receptor activity biological process negative regulation of gluconeogenesis signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10447 27999 Ensembl ENSG00000196937 ENSMUSG00000029672 UniProt Q92520 Q91VU0 RefSeq (mRNA) NM_001040020 NM_014888 NM_138587 RefSeq (protein) NP_001035109 NP_055703 NP_613053 Location (UCSC) Chr 7: 121.35 – 121.4 Mb Chr 6: 22.31 – 22.36 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Protein FAM3C is a protein that in humans is encoded by the FAM3C gene. ^{[5] [6]}

Function

This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. Alternate transcriptional splice variants which encode the same protein have been characterized. ^[6] FAM3C functions and expression also were studied in mammalian brains ^{[7] [8]} which shown that a reduced FAM3C level associated to the onset of sporadic Alzheimer's disease (AD), which highlighted FAM3C as a promising therapeutic target for Alzheimer's disease. Moreover, level of FAM3C was claimed to be a biomarker for AD together with saposin D. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000196937 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029672 – 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. Zhu Y, Xu G, Patel A, McLaughlin MM, Silverman C, Knecht K, Sweitzer S, Li X, McDonnell P, Mirabile R, Zimmerman D, Boyce R, Tierney LA, Hu E, Livi GP, Wolf B, Abdel-Meguid SS, Rose GD, Aurora R, Hensley P, Briggs M, Young PR (August 2002). "Cloning, expression, and initial characterization of a novel cytokine-like gene family". Genomics. 80 (2): 144–50. doi:10.1006/geno.2002.6816. PMID   12160727.
6. "Entrez Gene: FAM3C family with sequence similarity 3, member C".
7. Hasegawa H, Liu L, Tooyama I, Murayama S, Nishimura M (June 2014). "The FAM3 superfamily member ILEI ameliorates Alzheimer's disease-like pathology by destabilizing the penultimate amyloid-β precursor". Nature Communications. 5: 3917. Bibcode:2014NatCo...5.3917H. doi: 10.1038/ncomms4917 . PMID   24894631.
8. Liu L, Watanabe N, Akatsu H, Nishimura M (August 2016). "Neuronal expression of ILEI/FAM3C and its reduction in Alzheimer's disease". Neuroscience. 330: 236–46. doi:10.1016/j.neuroscience.2016.05.050. PMID   27256505. S2CID   24057333.
9. US 7993868,Davies, Huw Alun; Blennow, Kaj& McGuire, James Norton,"Saposin D and FAM3C are biomarkers for alzheimer's disease",published 9 Aug 2011 

Further reading

• Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi: 10.1101/gr.8.11.1097 . PMID   9847074.
• Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM (July 2004). "Lineage-specific gene duplication and loss in human and great ape evolution". PLOS Biology. 2 (7): E207. doi: 10.1371/journal.pbio.0020207 . PMC   449870 . PMID   15252450.
• Mauri P, Scarpa A, Nascimbeni AC, Benazzi L, Parmagnani E, Mafficini A, Della Peruta M, Bassi C, Miyazaki K, Sorio C (July 2005). "Identification of proteins released by pancreatic cancer cells by multidimensional protein identification technology: a strategy for identification of novel cancer markers". FASEB Journal. 19 (9): 1125–7. doi: 10.1096/fj.04-3000fje . PMID   15985535. S2CID   33940827.
• Grønborg M, Kristiansen TZ, Iwahori A, Chang R, Reddy R, Sato N, Molina H, Jensen ON, Hruban RH, Goggins MG, Maitra A, Pandey A (January 2006). "Biomarker discovery from pancreatic cancer secretome using a differential proteomic approach". Molecular & Cellular Proteomics. 5 (1): 157–71. doi: 10.1074/mcp.M500178-MCP200 . PMID   16215274.
• Guo J, Cheng H, Zhao S, Yu L (January 2006). "GG: a domain involved in phage LTF apparatus and implicated in human MEB and non-syndromic hearing loss diseases". FEBS Letters. 580 (2): 581–4. doi:10.1016/j.febslet.2005.12.076. PMID   16406369. S2CID   1013478.
• Waerner T, Alacakaptan M, Tamir I, Oberauer R, Gal A, Brabletz T, Schreiber M, Jechlinger M, Beug H (September 2006). "ILEI: a cytokine essential for EMT, tumor formation, and late events in metastasis in epithelial cells". Cancer Cell. 10 (3): 227–39. doi: 10.1016/j.ccr.2006.07.020 . PMID   16959614.