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Aliases for FAM111A Gene

Aliases for FAM111A Gene

  • Family With Sequence Similarity 111 Member A 2 3 5
  • Family With Sequence Similarity 111, Member A 2 3
  • KIAA1895 4
  • GCLEB 3
  • KCS2 3

External Ids for FAM111A Gene

Previous GeneCards Identifiers for FAM111A Gene

  • GC11P058669
  • GC11P058910
  • GC11P055256

Summaries for FAM111A Gene

Entrez Gene Summary for FAM111A Gene

  • 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. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

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, Type 2. GO annotations related to this gene include serine-type endopeptidase activity. 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM111A Gene

Genomics for FAM111A Gene

Regulatory Elements for FAM111A Gene

Enhancers for FAM111A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAM111A on UCSC Golden Path with GeneCards custom track

Promoters for FAM111A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM111A on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM111A Gene

Chromosome:
11
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

Genes around FAM111A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM111A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM111A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 30, Lys 65, Lys 165, Lys 286, Lys 304, Lys 321, and Lys 586
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAM111A Gene

Domains & Families for FAM111A Gene

Protein Domains for FAM111A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM111A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PZ2

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for FAM111A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for FAM111A Gene

miRTarBase miRNAs that target FAM111A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for FAM111A Gene

Pathways & Interactions 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
genes like me logo Genes that share ontologies with FAM111A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM111A Gene

Drugs & Compounds for FAM111A Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for FAM111A Gene

This gene is overexpressed in Lung (49.2) and Pancreatic juice (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FAM111A Gene



SOURCE GeneReport for Unigene cluster for FAM111A Gene Hs.150651

genes like me logo Genes that share expression patterns with FAM111A: view

Protein tissue co-expression partners for FAM111A Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FAM111A Gene

Orthologs for FAM111A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM111A Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia FAM111A 35
  • 76.23 (n)
  • 64.77 (a)
FAM111A 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam111a 35
  • 72.7 (n)
  • 57.81 (a)
Fam111a 16
Fam111a 36
  • 56 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM111A 35
  • 98.91 (n)
  • 97.05 (a)
FAM111A 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam111a 35
  • 72.08 (n)
  • 57.55 (a)
cow
(Bos Taurus)
Mammalia FAM111A 36
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 14 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 39 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 32 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC101886834 35
  • 49.37 (n)
  • 33.73 (a)
CR450726.1 36
  • 26 (a)
ManyToMany
FP102192.1 36
  • 25 (a)
ManyToMany
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

(1) 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
VAR_069513 Gracile bone dysplasia (GCLEB)
VAR_069515 Kenny-Caffey syndrome 2 (KCS2)
VAR_069516 Gracile bone dysplasia (GCLEB)
VAR_069517 Gracile bone dysplasia (GCLEB)
VAR_069518 Kenny-Caffey syndrome 2 (KCS2)

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

Variation tolerance for FAM111A Gene

Residual Variation Intolerance Score: 20.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM111A Gene

Human Gene Mutation Database (HGMD)
FAM111A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM111A Gene

Disorders for FAM111A Gene

MalaCards: The human disease database

(5) MalaCards diseases for FAM111A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gracile bone dysplasia
  • habrodysplasia
kenny-caffey syndrome, type 2
  • kenny-caffey syndrome type 2
kenny-caffey syndrome
  • kenny syndrome
hypoparathyroidism
  • hypoparathyroidism, idiopathic
hypoparathyroidism-retardation-dysmorphism syndrome
  • hrd syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

F111A_HUMAN
  • 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.
  • 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.

Relevant External Links for FAM111A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM111A
genes like me logo Genes that share disorders with FAM111A: view

No data available for Genatlas for FAM111A Gene

Publications for FAM111A Gene

  1. 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 67
  2. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. (PMID: 23684011) Unger S. … Superti-Furga A. (Am. J. Hum. Genet. 2013) 2 3
  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. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  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

Products for FAM111A Gene

Sources for FAM111A Gene

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