InnateDB Protein
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IDBP-587249.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FAM111A
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Protein Name
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family with sequence similarity 111, member A
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000434435
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InnateDB Gene
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IDBG-48138 (FAM111A)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus. Cytoplasm. Note=Mainly localizes to nucleus: colocalizes with PCNA on replication sites. {ECO:0000269PubMed:24561620}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001254
Peptidase S1
IPR009003
Trypsin-like cysteine/serine peptidase domain
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PFAM |
PF00089
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PRINTS |
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PIRSF |
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SMART |
SM00020
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TIGRFAMs |
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Modification |
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SwissProt |
Q96PZ2
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PhosphoSite |
PhosphoSite-Q96PZ2
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TrEMBL |
E9PR18
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UniProt Splice Variant |
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Entrez Gene |
63901
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UniGene |
Hs.601227
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RefSeq |
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HUGO |
HGNC:24725
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OMIM |
615292
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CCDS |
CCDS7973
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HPRD |
07015
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IMGT |
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EMBL |
AB067482
AK026447
AK291453
AP001258
BC013137
BC054515
BC071759
CH471076
CR749358
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GenPept |
AAH13137
AAH54515
AAH71759
BAB15486
BAB67788
BAF84142
CAH18211
EAW73834
EAW73835
EAW73836
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