Family with sequence similarity 111 member a
Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene.[5]
Function
[edit]The 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. Monoallelic variants in this gene have been associated with dominantly inherited Kenny-Caffey syndrome (KCS; MIM 127000[6]) and the more severe osteocraniostenosis (OCS; MIM 602361[7]), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia.[8] Alternative splicing of the FAM111A transcript results in multiple transcript variants. [provided by RefSeq, Aug 2015].
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000166801 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024691 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Family with sequence similarity 111 member A". Retrieved 2018-10-23.
- ^ "OMIM Entry - # 127000 - KENNY-CAFFEY SYNDROME, TYPE 2; KCS2".
- ^ "OMIM Entry - # 602361 - GRACILE BONE DYSPLASIA; GCLEB".
- ^ 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 (June 2013). "FAM111A mutations result in hypoparathyroidism and impaired skeletal development". Am. J. Hum. Genet. 92 (6): 990–5. doi:10.1016/j.ajhg.2013.04.020. PMC 3675238. PMID 23684011.
Further reading
[edit]- 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 (2012). "Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor". PLOS Pathog. 8 (10): e1002949. doi:10.1371/journal.ppat.1002949. PMC 3475652. PMID 23093934.
- 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 (June 2013). "FAM111A mutations result in hypoparathyroidism and impaired skeletal development". Am. J. Hum. Genet. 92 (6): 990–5. doi:10.1016/j.ajhg.2013.04.020. PMC 3675238. PMID 23684011.
- 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 (April 2014). "A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2". J. Bone Miner. Res. 29 (4): 992–8. doi:10.1002/jbmr.2091. PMID 23996431. S2CID 24976414.
- Alabert C, Bukowski-Wills JC, Lee SB, Kustatscher G, Nakamura K, de Lima Alves F, Menard P, Mejlvang J, Rappsilber J, Groth A (March 2014). "Nascent chromatin capture proteomics determines chromatin dynamics during DNA replication and identifies unknown fork components". Nat. Cell Biol. 16 (3): 281–93. doi:10.1038/ncb2918. PMC 4283098. PMID 24561620.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.