Version 5.4
Homo sapiens Protein: RBM28
Summary
InnateDB Protein IDBP-39630.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RBM28
Protein Name RNA binding motif protein 28
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000223073
InnateDB Gene IDBG-39628 (RBM28)
Protein Structure
UniProt Annotation
Function Nucleolar component of the spliceosomal ribonucleoprotein complexes. {ECO:0000269PubMed:17081119}.
Subcellular Localization Nucleus, nucleolus {ECO:0000269PubMed:12429849, ECO:0000269PubMed:17081119, ECO:0000269Ref.7}.
Disease Associations Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079]: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. {ECO:0000269PubMed:18439547}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed. {ECO:0000269PubMed:18439547}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 26 [view]
Protein-Protein 25 [view]
Protein-DNA 1 [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:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006397 mRNA processing
GO:0008380 RNA splicing
Cellular Component
GO:0005681 spliceosomal complex
GO:0005730 nucleolus
Protein Structure and Domains
PDB ID
InterPro IPR000504 RNA recognition motif domain
PFAM PF00076
PRINTS
PIRSF
SMART SM00360
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NW13
PhosphoSite PhosphoSite-Q9NW13
TrEMBL A0A024R753
UniProt Splice Variant
Entrez Gene 55131
UniGene Hs.274263
RefSeq NP_060547
HUGO HGNC:21863
OMIM 612074
CCDS CCDS5801
HPRD 07668
IMGT
EMBL AC010655 AC018635 AK001239 AK222716 AK300500 BC013889 CH236947 CH471070
GenPept AAH13889 BAA91575 BAD96436 BAG62214 EAL24314 EAW83643 EAW83644

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