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Aliases for FAM111A Gene

Aliases for FAM111A Gene

  • Family With Sequence Similarity 111, Member A 2 3
  • KIAA1895 4 6
  • GCLEB 3 6
  • KCS2 3 6
  • Protein FAM111A 3

External Ids for FAM111A Gene

Summaries for FAM111A Gene

GeneCards Summary for FAM111A Gene

FAM111A (Family With Sequence Similarity 111, Member A) is a Protein Coding gene. Diseases associated with FAM111A include gracile bone dysplasia and kenny-caffey syndrome. An important paralog of this gene is FAM111B.

UniProtKB/Swiss-Prot for FAM111A Gene

  • Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis (PubMed:24561620). May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction (PubMed:23093934).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM111A Gene

Genomics for FAM111A Gene

Genomic Location for FAM111A Gene

Start:
59,142,748 bp from pter
End:
59,155,039 bp from pter
Size:
12,292 bases
Orientation:
Plus strand

Genomic View for FAM111A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM111A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM111A Gene

Regulatory Elements for FAM111A Gene

Proteins for FAM111A Gene

  • Protein details for FAM111A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PZ2-F111A_HUMAN
    Recommended name:
    Protein FAM111A
    Protein Accession:
    Q96PZ2
    Secondary Accessions:
    • A8K5Y8
    • Q5RKS9
    • Q5XKM2
    • Q68DK9
    • Q6IPR7
    • Q9H5Y1

    Protein attributes for FAM111A Gene

    Size:
    611 amino acids
    Molecular mass:
    70196 Da
    Quaternary structure:
    • Interacts with PCNA; then interaction is direct. Interacts with SV40 virus large T antigen and this interaction is required for efficient viral replication and sustained viral gene expression in restrictive cell types.
    SequenceCaution:
    • Sequence=BAB15486.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB67788.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for FAM111A Gene

Proteomics data for FAM111A Gene at MOPED

Post-translational modifications for FAM111A Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys30, Lys65, Lys163, Lys165, Lys286, Lys304, Lys321, and Lys586

No data available for DME Specific Peptides for FAM111A Gene

Domains for FAM111A Gene

Protein Domains for FAM111A Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

F111A_HUMAN
Domain:
  • The PIP-box mediates the interaction with PCNA.:
    • Q96PZ2
Family:
  • Belongs to the FAM111 family.:
    • Q96PZ2
genes like me logo Genes that share domains with FAM111A: view

No data available for Gene Families for FAM111A Gene

Function for FAM111A Gene

Molecular function for FAM111A Gene

UniProtKB/Swiss-Prot Function: Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis (PubMed:24561620). May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction (PubMed:23093934).
UniProtKB/Swiss-Prot Induction: Regulated in a cell cycle dependent manner with the lowest expression during G0 or the quiescent phase and with peak expression during G2/M phase (at protein level).

Gene Ontology (GO) - Molecular Function for FAM111A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004252 serine-type endopeptidase activity --
GO:0005515 protein binding IPI 23093934
genes like me logo Genes that share ontologies with FAM111A: view

Phenotypes for FAM111A Gene

GenomeRNAi human phenotypes for FAM111A:
genes like me logo Genes that share phenotypes with FAM111A: view

miRNA for FAM111A Gene

miRTarBase miRNAs that target FAM111A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FAM111A Gene

Localization for FAM111A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM111A Gene

Nucleus. Cytoplasm. Note=Mainly localizes to nucleus: colocalizes with PCNA on replication sites. {ECO:0000269 PubMed:24561620}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM111A Gene COMPARTMENTS Subcellular localization image for FAM111A gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FAM111A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 24561620
GO:0005634 nucleus IDA 23093934
GO:0005737 cytoplasm IDA 23093934
genes like me logo Genes that share ontologies with FAM111A: view

Pathways for FAM111A Gene

SuperPathways for FAM111A Gene

No Data Available

Interacting Proteins for FAM111A Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000355264%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000355264 Q96PZ2-F111A_HUMAN for FAM111A Gene via STRING I2D

Gene Ontology (GO) - Biological Process for FAM111A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IMP 24561620
GO:0006508 proteolysis --
GO:0016032 viral process IEA --
GO:0045071 negative regulation of viral genome replication IMP 23093934
GO:0051607 defense response to virus IEA --
genes like me logo Genes that share ontologies with FAM111A: view

No data available for Pathways by source for FAM111A Gene

Transcripts for FAM111A Gene

Unigene Clusters for FAM111A Gene

Family with sequence similarity 111, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM111A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for FAM111A Gene

GeneLoc Exon Structure for
FAM111A
ECgene alternative splicing isoforms for
FAM111A

Expression for FAM111A Gene

mRNA expression in normal human tissues for FAM111A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM111A Gene

SOURCE GeneReport for Unigene cluster for FAM111A Gene Hs.150651

genes like me logo Genes that share expressions with FAM111A: view

Orthologs for FAM111A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM111A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM111A 36
  • 98.91 (n)
  • 97.05 (a)
FAM111A 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM111A 37
  • 46 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM111A 36
  • 76.23 (n)
  • 64.77 (a)
FAM111A 37
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam111a 36
  • 72.7 (n)
  • 57.81 (a)
Fam111a 16
Fam111a 37
  • 56 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 14 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 39 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam111a 36
  • 72.08 (n)
  • 57.55 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 32 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CR450726.1 37
  • 26 (a)
ManyToMany
FP102192.1 37
  • 25 (a)
ManyToMany
LOC101886834 36
  • 49.37 (n)
  • 33.73 (a)
Species with no ortholog for FAM111A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM111A Gene

ENSEMBL:
Gene Tree for FAM111A (if available)
TreeFam:
Gene Tree for FAM111A (if available)

Paralogs for FAM111A Gene

Paralogs for FAM111A Gene

Selected SIMAP similar genes for FAM111A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAM111A: view

Variants for FAM111A Gene

Sequence variations from dbSNP and Humsavar for FAM111A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs14600 -- 59,154,944(-) ACCCT(A/T)TATAT utr-variant-3-prime
rs483316 -- 59,151,050(-) AAAAT(G/T)GTTCT intron-variant
rs484179 -- 59,151,143(+) ATTTC(A/C)AATAC intron-variant
rs557003 -- 59,149,356(-) AACCC(A/C)ATGCC intron-variant
rs592110 -- 59,150,706(-) ATTAT(A/T)TTTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM111A Gene

Variant ID Type Subtype PubMed ID
dgv386e1 CNV Complex 17122850
esv2674064 CNV Deletion 23128226

Relevant External Links for FAM111A Gene

HapMap Linkage Disequilibrium report
FAM111A
Human Gene Mutation Database (HGMD)
FAM111A

Disorders for FAM111A Gene

(2) OMIM Diseases for FAM111A Gene (615292)

UniProtKB/Swiss-Prot

F111A_HUMAN
  • Kenny-Caffey syndrome 2 (KCS2) [MIM:127000]: A disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269 PubMed:23684011, ECO:0000269 PubMed:23996431, ECO:0000269 PubMed:24635597}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gracile bone dysplasia (GCLEB) [MIM:602361]: A perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels. {ECO:0000269 PubMed:23684011}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with FAM111A: view

Publications for FAM111A Gene

  1. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. (PMID: 23684011) Unger S. … Superti-Furga A. (Am. J. Hum. Genet. 2013) 2 3 4
  2. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. (PMID: 23996431) Isojima T. … Kitanaka S. (J. Bone Miner. Res. 2013) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4
  4. Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor. (PMID: 23093934) Fine D.A. … DeCaprio J.A. (PLoS Pathog. 2012) 3 4
  5. Nascent chromatin capture proteomics determines chromatin dynamics during DNA replication and identifies unknown fork components. (PMID: 24561620) Alabert C. … Groth A. (Nat. Cell Biol. 2014) 3 4

Products for FAM111A Gene

Sources for FAM111A Gene

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