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FAM111A
Identifiers
Aliases	FAM111A, GCLEB, KCS2, family with sequence similarity 111 member A
External IDs	OMIM: 615292; MGI: 1915508; HomoloGene: 49696; GeneCards: FAM111A; OMA:FAM111A - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q12.1 Start 59,142,748 bp End 59,155,039 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19 A|19 Start 12,523,104 bp End 12,567,132 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte tendon of biceps brachii right uterine tube trabecular bone ventricular zone lymph node spleen Achilles tendon prostate Top expressed in granulocyte fetal liver hematopoietic progenitor cell tibiofemoral joint otic vesicle spleen dermis mesenteric lymph nodes otic placode saccule endothelial cell of lymphatic vessel More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm chromatin nucleus fibrillar center Biological process DNA replication negative regulation of viral genome replication viral process defense response to virus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 63901 107373 Ensembl ENSG00000166801 ENSMUSG00000024691 UniProt Q96PZ2 Q9D2L9 RefSeq (mRNA) NM_198847 NM_001142519 NM_001142520 NM_001142521 NM_001312909 NM_001312910 NM_001312911 NM_022074 NM_001369455 NM_001369456 NM_001369457 NM_026640 NM_001346545 RefSeq (protein) NP_001135991 NP_001135992 NP_001135993 NP_001299838 NP_001299839 NP_001299840 NP_071357 NP_942144 NP_001356386 NP_001361733 NP_001361777 NP_001361778 NP_001361779 NP_001361780 NP_001361781 NP_001361782 NP_001361783 NP_001361784 NP_001361785 NP_001361786 NP_001361787 NP_001361788 NP_001361789 NP_001361790 NP_001361791 NP_001361792 NP_001361793 NP_001361794 NP_001361795 NP_001361796 NP_001361797 NP_001361798 NP_001361799 NP_001333474 NP_080916 Location (UCSC) Chr 11: 59.14 – 59.16 Mb Chr 19: 12.52 – 12.57 Mb PubMed search
Wikidata
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Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene.

Function

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) and the more severe osteocraniostenosis (OCS; MIM 602361), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing of the FAM111A transcript results in multiple transcript variants. .

References

1. ^ GRCh38: Ensembl release 89: ENSG00000166801 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000024691 – 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. "Entrez Gene: Family with sequence similarity 111 member A". Retrieved 2018-10-23.
6. "OMIM Entry - # 127000 - KENNY-CAFFEY SYNDROME, TYPE 2; KCS2".
7. "OMIM Entry - # 602361 - GRACILE BONE DYSPLASIA; GCLEB".
8. 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

• 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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