Protein Summary
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). 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, ...more
- ENST00000361723
- ENSP00000355264
- ENSG00000166801
- ENST00000420244
- ENSP00000406683
- ENST00000528737
- ENSP00000434435
- ENST00000531147
- ENSP00000431631
- ENST00000533703
- ENSP00000433154
- KIAA1895
- KCS2
- GCLEB
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
transcription factor perturbation | 0.8 | ||
transcription factor | 0.72 | ||
tissue sample | 0.7 | ||
phenotype | 0.66 | ||
disease perturbation | 0.62 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 19.71 (req: < 5)
Gene RIFs: 5 (req: <= 3)
Antibodies: 41 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 19.71 (req: >= 5)
Gene RIFs: 5 (req: > 3)
Antibodies: 41 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 4
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (21)
TP53
Family: TF
Novelty: 0.00001907
p_int: 0.952013352
p_ni: 0.047986648
Score: 0.403
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (0)
Viral Interactions (0)
Gene Ontology Terms (8)
Components (4)
Processes (4)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | HPA | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Disease Associations ()
GWAS Traits (3)
Items per page:
1 – 3 of 3
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
heel bone mineral density | 2 | 1 | 2 | 66.8 | |||||
mathematical ability | 2 | 1 | 2 | 7.1 | |||||
sex hormone-binding globulin measurement | 1 | 1 | 1 | 4.5 | |||||
Items per page:
1 – 3 of 3
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
heel bone mineral density | 2 | 66.8 | |||||
mathematical ability | 2 | 7.1 | |||||
sex hormone-binding globulin measurement | 1 | 4.5 | |||||
Find similar targets by:
IDG Resources
Orthologs (6)
1 – 5 of 6
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | family with sequence similarity 111 member A | VGNC:53063 | 451209 | |||||
Macaque | family with sequence similarity 111 member A | 701070 | ||||||
Mouse | MGI:1915508 | 107373 | ||||||
Rat | RGD:1560913 | 499322 | ||||||
Dog | family with sequence similarity 111 member A | VGNC:40578 | 609888 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | family with sequence similarity 111 member A | |||||
Macaque | family with sequence similarity 111 member A | |||||
Mouse | ||||||
Rat | ||||||
Dog | family with sequence similarity 111 member A | |||||
Publication Statistics
PubMed Score 19.71
PubMed score by year
PubTator Score 7.19
PubTator score by year
Related Publications
Text Mined References (11)
GeneRif Annotations (5)
Items per page:
0 of 0
PMID | Year | Title |
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