Version 5.4
Homo sapiens Protein: ROGDI
Summary
InnateDB Protein IDBP-13122.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ROGDI
Protein Name rogdi homolog (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000322832
InnateDB Gene IDBG-13120 (ROGDI)
Protein Structure
UniProt Annotation
Function May act as a positive regulator of cell proliferation. {ECO:0000250}.
Subcellular Localization Nucleus envelope {ECO:0000269PubMed:22482807}.
Disease Associations Kohlschuetter-Toenz syndrome (KTZS) [MIM:226750]: An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life. {ECO:0000269PubMed:22424600, ECO:0000269PubMed:22482807}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver. {ECO:0000269PubMed:22482807}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0008284 positive regulation of cell proliferation
GO:0030097 hemopoiesis
Cellular Component
GO:0005622 intracellular
GO:0005635 nuclear envelope
Protein Structure and Domains
PDB ID
InterPro IPR028241 RAVE subunit 2/Rogdi
PFAM PF10259
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9GZN7
PhosphoSite PhosphoSite-Q9GZN7
TrEMBL D3DUE5
UniProt Splice Variant
Entrez Gene 79641
UniGene Hs.459795
RefSeq NP_078865
HUGO HGNC:29478
OMIM 614574
CCDS CCDS10523
HPRD 13388
IMGT
EMBL AK026039 AL136675 BC012901 CH471112 CR457355 CR533547
GenPept AAH12901 BAB15331 CAB66610 CAG33636 CAG38578 EAW85258 EAW85260 EAW85261

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca