Homo sapiens Protein: SP110
Summary
InnateDB Protein IDBP-82820.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SP110
Protein Name SP110 nuclear body protein
Synonyms IFI41; IFI75; IPR1; VODI;
Species Homo sapiens
Ensembl Protein ENSP00000258381
InnateDB Gene IDBG-82818 (SP110)
Protein Structure
UniProt Annotation
Function Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00185, ECO:0000255PROSITE-ProRule:PRU00747, ECO:0000269PubMed:10913195}. Note=Found in the nuclear body.
Disease Associations Hepatic venoocclusive disease with immunodeficiency (VODI) [MIM:235550]: Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B-cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. {ECO:0000269PubMed:16648851}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 20 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007165 signal transduction
GO:0016032 viral process
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
Protein Structure and Domains
PDB ID
InterPro IPR000770 SAND domain
IPR001487 Bromodomain
IPR001965 Zinc finger, PHD-type
IPR004865 Sp100
IPR010919 SAND domain-like
IPR011011 Zinc finger, FYVE/PHD-type
IPR019787 Zinc finger, PHD-finger
PFAM PF01342
PF00439
PF03172
PF00628
PRINTS PR00503
PIRSF
SMART SM00258
SM00297
SM00249
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HB58
PhosphoSite PhosphoSite-Q9HB58
TrEMBL Q2I9M3
UniProt Splice Variant
Entrez Gene 3431
UniGene Hs.601987
RefSeq NP_536349
HUGO HGNC:5401
OMIM 604457
CCDS CCDS2475
HPRD 06832
IMGT
EMBL AC009950 AF280094 AF280095 AK026488 AK301097 BC019059 CH471063 DQ124709 DQ124710 DQ124711 DQ124712 DQ124713 DQ124714 DQ124715 HQ269346 HQ269347 HQ269348 L22342 L22343
GenPept AAA18806 AAD13402 AAF99318 AAG09826 AAH19059 AAX93281 AAZ23281 AAZ23282 AAZ23283 AAZ23284 AAZ23285 AEK50372 AEK50373 AEK50374 BAG62696 EAW70915