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,... See more...

Aliases for FAM111A Gene

Aliases for FAM111A Gene

  • Family With Sequence Similarity 111 Member A 2 3 5
  • Protein FAM111A 3 4
  • Family With Sequence Similarity 111, Member A 2
  • 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. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is FAM111B.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for FAM111A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM111A Gene

Genomics for FAM111A Gene

GeneHancer (GH) Regulatory Elements for FAM111A Gene

Promoters and enhancers for FAM111A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J059141 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 781.8 +1.2 1155 5.4 SIN3A ZBTB40 CTCF FOXA1 SMARCE1 POLR2A USF2 HDAC2 CREB1 ZNF362 FAM111A ENSG00000255381 FAM111A-DT HSALNG0084390 LOC100422399 lnc-FAM111B-1 lnc-MPEG1-6 PATL1 ENSG00000269570 ENSG00000255139
GH11J058571 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.4 -565.2 -565247 11 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 LCORL ZBTB6 FOXA1 RBPJ ZFP91 LPXN ZFP91-CNTF ENSG00000269570 ENSG00000255139 ENSG00000255008 FAM111A CLP1 CTNND1 ZDHHC5
GH11J059809 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 20.2 +667.8 667781 2.3 ZNF24 SP1 ZBTB40 CTCF SIX5 ZBTB6 LCORL FOXA1 RBPJ POLR2A MRPL16 lnc-GIF-1-001 lnc-GIF-1-002 ENSG00000255139 PATL1 FAM111A ENSG00000255008 STX3
GH11J059559 Promoter/Enhancer 1.5 ENCODE CraniofacialAtlas dbSUPER 26.4 +418.5 418535 3.3 GTF3C2 SIN3A ZNF24 ZBTB40 MLX SMARCE1 POLR2A NR2F6 CREB1 MIXL1 TRK-TTT3-4 ENSG00000269570 ENSG00000255008 ENSG00000255139 PATL1 FAM111A FAM111A-DT STX3 MS4A2 OSBP
GH11J059544 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 18.6 +406.4 406360 8.8 GTF3C2 ZNF24 ZBTB40 CTCF LCORL ZBTB6 RBPJ SMARCE1 MCM5 USF2 TRV-TAC1-1 TRV-TAC2-1 lnc-OR4D9-1-002 ENSG00000269570 ENSG00000255139 PATL1 ENSG00000255008 ZFP91 FAM111A-DT FAM111A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM111A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM111A gene promoter:
  • c-Rel
  • FOXO1
  • FOXO1a
  • Max
  • SRY

Genomic Locations for FAM111A Gene

Genomic Locations for FAM111A Gene
chr11:59,142,748-59,155,039
(GRCh38/hg38)
Size:
12,292 bases
Orientation:
Plus strand
chr11:58,910,221-58,922,512
(GRCh37/hg19)
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.
    • (Microbial infection) 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

Post-translational modifications for FAM111A Gene

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

No data available for DME Specific Peptides for FAM111A Gene

Domains & Families for FAM111A Gene

Gene Families for FAM111A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FAM111A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM111A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM111A (F111A_HUMAN)

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

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).

Phenotypes From GWAS Catalog for FAM111A Gene

Gene Ontology (GO) - Molecular Function for FAM111A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23093934
genes like me logo Genes that share ontologies with FAM111A: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM111A gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM111A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 24561620
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA,IDA 23093934
GO:0005737 cytoplasm IDA,IEA 23093934
genes like me logo Genes that share ontologies with FAM111A: view

Pathways & Interactions for FAM111A Gene

PathCards logo

SuperPathways for FAM111A Gene

No Data Available

Interacting Proteins for FAM111A Gene

Gene Ontology (GO) - Biological Process for FAM111A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IMP 24561620
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 and SIGNOR curated interactions for FAM111A Gene

Drugs & Compounds for FAM111A Gene

No Compound Related Data Available

Transcripts for FAM111A Gene

CRISPR Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for FAM111A Gene



Protein tissue co-expression partners for FAM111A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM111A Gene:

FAM111A

SOURCE GeneReport for Unigene cluster for FAM111A Gene:

Hs.150651

Evidence on tissue expression from TISSUES for FAM111A Gene

  • Intestine(4.3)
  • Lung(4.3)
  • Nervous system(4.3)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM111A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • kidney
  • spleen
Pelvis:
  • pelvis
  • penis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FAM111A: view

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
chimpanzee
(Pan troglodytes)
Mammalia FAM111A 33 32
  • 98.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM111A 33 32
  • 76.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam111a 17 33 32
  • 72.7 (n)
rat
(Rattus norvegicus)
Mammalia Fam111a 32
  • 72.08 (n)
cow
(Bos Taurus)
Mammalia FAM111A 33
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 39 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 14 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 32 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC101886834 32
  • 49.37 (n)
CR450726.1 33
  • 26 (a)
ManyToMany
FP102192.1 33
  • 25 (a)
ManyToMany
Species where no ortholog for FAM111A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FAM111A: view image

Paralogs for FAM111A Gene

Paralogs for FAM111A Gene

(1) SIMAP similar genes for FAM111A Gene using alignment to 3 proteins:

  • F111A_HUMAN
  • E9PNQ0_HUMAN
  • E9PR18_HUMAN
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 Variation AA Info Type
rs1565206032 pathogenic, Gracile bone dysplasia 59,152,688(+) TTCTTCTTC/TTCTTC coding_sequence_variant, inframe_deletion
rs587777011 conflicting-interpretations-of-pathogenicity, pathogenic, Kenny-Caffey syndrome type 2, not provided, Kenny-Caffey syndrome 2 (KCS2) [MIM:127000] 59,153,374(+) G/A coding_sequence_variant, missense_variant
rs587777012 conflicting-interpretations-of-pathogenicity, Kenny-Caffey syndrome type 2, Kenny-Caffey syndrome 2 (KCS2) [MIM:127000] 59,153,199(+) T/C coding_sequence_variant, missense_variant
rs587777013 pathogenic-likely-pathogenic, Gracile bone dysplasia, Gracile bone dysplasia (GCLEB) [MIM:602361] 59,153,251(+) A/G/T coding_sequence_variant, missense_variant
rs587777014 pathogenic-likely-pathogenic, Gracile bone dysplasia, Gracile bone dysplasia (GCLEB) [MIM:602361] 59,152,680(+) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2674064 CNV deletion 23128226
esv2759830 CNV gain 17122850
nsv1050013 CNV gain 25217958

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)

Additional Variant Information for FAM111A Gene

Human Gene Mutation Database (HGMD)
FAM111A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for 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. Nascent chromatin capture proteomics determines chromatin dynamics during DNA replication and identifies unknown fork components. (PMID: 24561620) Alabert C … Groth A (Nature cell biology 2014) 2 3 4 56
  2. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. (PMID: 23996431) Isojima T … Kitanaka S (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2014) 2 3 4 56
  3. Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. (PMID: 24635597) Nikkel SM … Boycott KM (Clinical genetics 2014) 3 4 56
  4. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. (PMID: 23684011) Unger S … Superti-Furga A (American journal of human genetics 2013) 3 4 56
  5. Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor. (PMID: 23093934) Fine DA … DeCaprio JA (PLoS pathogens 2012) 3 4 56

Products for FAM111A Gene

Sources for FAM111A Gene