Family with sequence similarity 111 member a

Protein-coding gene in the species Homo sapiens
FAM111A
Identifiers
AliasesFAM111A, GCLEB, KCS2, family with sequence similarity 111 member A
External IDsOMIM: 615292; MGI: 1915508; HomoloGene: 49696; GeneCards: FAM111A; OMA:FAM111A - orthologs
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for FAM111A
Genomic location for FAM111A
Band11q12.1Start59,142,748 bp[1]
End59,155,039 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for FAM111A
Genomic location for FAM111A
Band19 A|19Start12,523,104 bp[2]
End12,567,132 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 19: 12.52 – 12.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Family with sequence similarity 111 member A is a protein that in humans is encoded by the FAM111A gene.[5]

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[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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166801 – Ensembl, May 2017
  2. ^ a b c 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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This article incorporates text from the United States National Library of Medicine, which is in the public domain.