InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FAM111A

Summary

InnateDB Protein

IDBP-48140.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FAM111A

Protein Name

family with sequence similarity 111, member A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000355264

InnateDB Gene

IDBG-48138 (FAM111A)

Protein Structure

UniProt Annotation

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). {ECO:0000269PubMed:23093934, ECO:0000269PubMed:24561620}.

Subcellular Localization

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

Disease Associations

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:0000269PubMed:23684011, ECO:0000269PubMed:23996431, ECO:0000269PubMed: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:0000269PubMed:23684011}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004252	serine-type endopeptidase activity
GO:0005515	protein binding

Biological Process

GO:0000087	mitotic M phase
GO:0006260	DNA replication
GO:0006508	proteolysis
GO:0016032	viral process
GO:0045071	negative regulation of viral genome replication
GO:0051607	defense response to virus