InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TOPORS

Summary

InnateDB Protein

IDBP-55975.6

Last Modified

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

Gene Symbol

TOPORS

Protein Name

topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase

Synonyms

LUN; P53BP3; RP31; TP53BPL;

Species

Homo sapiens

Ensembl Protein

ENSP00000369187

InnateDB Gene

IDBG-55971 (TOPORS)

Protein Structure

UniProt Annotation

Function

Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage- induced cell death through IKBKE sumoylation. {ECO:0000269PubMed:15247280, ECO:0000269PubMed:15735665, ECO:0000269PubMed:16122737, ECO:0000269PubMed:17803295, ECO:0000269PubMed:18077445, ECO:0000269PubMed:19473992, ECO:0000269PubMed:20188669}.

Subcellular Localization

Nucleus. Nucleus, PML body. Note=Localizes to discrete nuclear foci which partly overlap with PML nuclear bodies. Targeted to PML nuclear bodies upon DNA damage.

Disease Associations

Retinitis pigmentosa 31 (RP31) [MIM:609923]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:17924349}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at highest levels in testis and at lower levels in adrenal gland, bone marrow, brain, colon, heart, kidney, liver, muscle, ovary, pancreas, placenta, prostate, skeletal muscle, skin, small intestine, spleen, stomach, testis, thymus, thyroid and uterus. Expressed in the alveolar epithelium of the lung. Expression is commonly decreased in colon adenocarcinomas and lung cancers. {ECO:0000269PubMed:10415337, ECO:0000269PubMed:11278651, ECO:0000269PubMed:15107820}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 58 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	58 [view]
Protein-Protein	58 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003823	antigen binding
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0019789	SUMO ligase activity
GO:0044547	DNA topoisomerase binding
GO:0046872	metal ion binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006511	ubiquitin-dependent protein catabolic process
GO:0006513	protein monoubiquitination
GO:0006974	cellular response to DNA damage stimulus
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0010842	retina layer formation
GO:0016925	protein sumoylation
GO:0034504	protein localization to nucleus
GO:0035845	photoreceptor cell outer segment organization
GO:0043066	negative regulation of apoptotic process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0046548	retinal rod cell development
GO:0046549	retinal cone cell development
GO:0051443	positive regulation of ubiquitin-protein transferase activity
GO:0051457	maintenance of protein location in nucleus
GO:0070936	protein K48-linked ubiquitination

Cellular Component

GO:0000151	ubiquitin ligase complex
GO:0000922	spindle pole
GO:0000930	gamma-tubulin complex
GO:0005634	nucleus
GO:0005814	centriole
GO:0005868	cytoplasmic dynein complex
GO:0016605	PML body
GO:0016607	nuclear speck
GO:0030496	midbody
GO:0032391	photoreceptor connecting cilium
GO:0036064	ciliary basal body