Version 5.4
Homo sapiens Gene: KCTD7
Summary
InnateDB Gene IDBG-408379.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCTD7
Gene Name potassium channel tetramerisation domain containing 7
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000243335
Encoded Proteins
IDBP-18689
potassium channel tetramerisation domain containing 7
IDBP-18693
potassium channel tetramerisation domain containing 7
IDBP-376893
potassium channel tetramerisation domain containing 7
IDBP-376895
potassium channel tetramerisation domain containing 7
IDBP-476145
potassium channel tetramerisation domain containing 7
IDBP-480206
potassium channel tetramerisation domain containing 7
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011] RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:66628881-66811187
Strand Forward strand
Band q11.21
Transcripts
ENST00000275532 ENSP00000275532
ENST00000380828 ENSP00000370208
ENST00000443322 ENSP00000411624
ENST00000449064 ENSP00000388463
ENST00000503687 ENSP00000421074
ENST00000510829 ENSP00000421124
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
Biological Process
GO:0008219 cell death
GO:0051260 protein homooligomerization
Cellular Component
GO:0005829 cytosol
GO:0005886 plasma membrane
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.530053 Hs.546627 Hs.627532
RefSeq NM_001167961 NM_153033 NM_001287060 NM_001287061 NM_001287062 NM_014504
HUGO
OMIM
CCDS CCDS55117 CCDS5534 CCDS5535 CCDS69308 CCDS75610
HPRD 13770
IMGT
EMBL
GenPept
RNA Seq Atlas

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