| 释义 |
- Function
- References
- Further reading
{{Infobox_gene}}Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene.[1]FunctionThe protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. References 1. ^{{cite web| title = Entrez Gene: Family with sequence similarity 111 member A| url = https://www.ncbi.nlm.nih.gov/gene/63901| accessdate = 2018-10-23}}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Fine DA, Rozenblatt-Rosen O, Padi M, Korkhin A, James RL, Adelmant G, Yoon R, Guo L, Berrios C, Zhang Y, Calderwood MA, Velmurgan S, Cheng J, Marto JA, Hill DE, Cusick ME, Vidal M, Florens L, Washburn MP, Litovchick L, DeCaprio JA |title=Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor |journal=PLoS Pathog. |volume=8 |issue=10 |pages=e1002949 |date=2012 |pmid=23093934 |pmc=3475652 |doi=10.1371/journal.ppat.1002949 |url=}}
- {{cite journal |vauthors=Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A |title=FAM111A mutations result in hypoparathyroidism and impaired skeletal development |journal=Am. J. Hum. Genet. |volume=92 |issue=6 |pages=990–5 |date=June 2013 |pmid=23684011 |pmc=3675238 |doi=10.1016/j.ajhg.2013.04.020 |url=}}
- {{cite journal |vauthors=Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S |title=A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2 |journal=J. Bone Miner. Res. |volume=29 |issue=4 |pages=992–8 |date=April 2014 |pmid=23996431 |doi=10.1002/jbmr.2091 |url=}}
- {{cite journal |vauthors=Alabert C, Bukowski-Wills JC, Lee SB, Kustatscher G, Nakamura K, de Lima Alves F, Menard P, Mejlvang J, Rappsilber J, Groth A |title=Nascent chromatin capture proteomics determines chromatin dynamics during DNA replication and identifies unknown fork components |journal=Nat. Cell Biol. |volume=16 |issue=3 |pages=281–93 |date=March 2014 |pmid=24561620 |pmc=4283098 |doi=10.1038/ncb2918 |url=}}
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