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].
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000166801 - Ensembl, May 2017
^ abcGRCm38: 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 - # 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. PMC3675238. PMID 23684011.
Further readingedit
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. PMC3475652. 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. PMC3675238. 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. PMC4283098. PMID 24561620.
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.
family, with, sequence, similarity, member, family, with, sequence, similarity, member, protein, that, humans, encoded, fam111a, gene, fam111aidentifiersaliasesfam111a, gcleb, kcs2, family, with, sequence, similarity, member, aexternal, idsomim, 615292, 191550. Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene 5 FAM111AIdentifiersAliasesFAM111A GCLEB KCS2 family with sequence similarity 111 member AExternal IDsOMIM 615292 MGI 1915508 HomoloGene 49696 GeneCards FAM111AGene location Human Chr Chromosome 11 human 1 Band11q12 1Start59 142 748 bp 1 End59 155 039 bp 1 Gene location Mouse Chr Chromosome 19 mouse 2 Band19 A 19Start12 523 104 bp 2 End12 567 132 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inmonocyteright uterine tubecancellous bonelymph nodespleenAchilles tendonprostateappendixrectumendometriumTop expressed inspleendermisotic placodesacculebone marrowatrioventricular valveblooduretersuperior cervical ganglioncorneaMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein bindingCellular componentcytoplasm chromatin nucleus fibrillar centerBiological processDNA replication negative regulation of viral genome replication viral process defense response to virusSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez63901107373EnsemblENSG00000166801ENSMUSG00000024691UniProtQ96PZ2Q9D2L9RefSeq mRNA NM 198847NM 001142519NM 001142520NM 001142521NM 001312909NM 001312910NM 001312911NM 022074NM 001369455NM 001369456NM 001369457NM 026640NM 001346545RefSeq protein NP 001135991NP 001135992NP 001135993NP 001299838NP 001299839NP 001299840NP 071357NP 942144NP 001356386NP 001361733NP 001361777NP 001361778NP 001361779NP 001361780NP 001361781NP 001361782NP 001361783NP 001361784NP 001361785NP 001361786NP 001361787NP 001361788NP 001361789NP 001361790NP 001361791NP 001361792NP 001361793NP 001361794NP 001361795NP 001361796NP 001361797NP 001361798NP 001361799NP 001333474NP 080916Location UCSC Chr 11 59 14 59 16 MbChr 19 12 52 12 57 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThe 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 Gorna MW Le Bechec 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 Bonafe 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 editFine 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 Gorna MW Le Bechec 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 Bonafe 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 nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte This article incorporates text from the United States National Library of Medicine which is in the public domain Retrieved from https en wikipedia org w index php title Family with sequence similarity 111 member a amp oldid 1121521146, wikipedia, wiki, book, books, library,
