FAM3C

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

FAM3C
Identifiers
AliasesFAM3C, ILEI, GS3786, family with sequence similarity 3 member C, FAM3 metabolism regulating signaling molecule C
External IDsOMIM: 608618 MGI: 107892 HomoloGene: 8926 GeneCards: FAM3C
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q31.31Start121,348,878 bp[1]
End121,396,364 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 6: 22.31 – 22.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 saponin D.[9]

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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. 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.
  9. , Davies, Huw Alun; Kaj Blennow & James Norton McGuire, "Saposin D and FAM3C are biomarkers for alzheimer's disease"

Further reading


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