Version 5.4
Homo sapiens Gene: JRK
Summary
InnateDB Gene IDBG-305040.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol JRK
Gene Name jerky homolog (mouse)
Synonyms jerky; JH8
Species Homo sapiens
Ensembl Gene ENSG00000234616
Encoded Proteins
IDBP-809582
Jrk homolog (mouse)
IDBP-809575
Jrk homolog (mouse)
IDBP-809580
Jrk homolog (mouse)
IDBP-809581
Jrk homolog (mouse)
IDBP-809588
Jrk homolog (mouse)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is the human homolog of the mouse jerky gene. The encoded protein has similarity to several nuclear regulatory proteins, including centromere protein B, suggesting that it might function as a DNA-binding protein. Insertional inactivation of this gene in transgenic mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene, making this gene a strong candidate for CAE. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:142657460-142681968
Strand Reverse strand
Band q24.3
Transcripts
ENST00000506774
ENST00000503272 ENSP00000482585
ENST00000591180
ENST00000591357
ENST00000587883
ENST00000585503
ENST00000587499
ENST00000614134 ENSP00000485390
ENST00000615982 ENSP00000483808
ENST00000571961 ENSP00000461610
ENST00000612905 ENSP00000482410
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030529 ribonucleoprotein complex
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL D3DWI5 O75566
UniProt Splice Variant
Entrez Gene 8629
UniGene
RefSeq NM_001279352 NM_001077527 NM_003724 XM_006716677 XM_006716678 XM_006716679
HUGO HGNC:6199
OMIM 603210
CCDS CCDS75797 CCDS75796
HPRD
IMGT
EMBL AF072469 CH471162
GenPept AAC32354 EAW82316 EAW82317
RNA Seq Atlas 8629

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