Homo sapiens Gene: KCTD7
Summary
InnateDB Gene IDBG-408379.3
Last Modified 2013-04-25 [Report errors or provide feedback]
Gene Symbol KCTD7
Gene Name potassium channel tetramerisation domain containing 7
Synonyms CLN14; EPM3;
Species Homo sapiens
Ensembl Gene ENSG00000243335
Encoded Proteins
potassium channel tetramerisation domain containing 7
potassium channel tetramerisation domain containing 7
potassium channel tetramerisation domain containing 7
potassium channel tetramerisation domain containing 7
potassium channel tetramerisation domain containing 7
potassium channel tetramerisation domain containing 7
potassium channel tetramerisation domain containing 7
Protein Structure
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 7:66093868-66276446
Strand Forward strand
Band q11.21
Transcripts
ENST00000275532 ENSP00000275532
ENST00000380828 ENSP00000370208
ENST00000443322 ENSP00000411624
ENST00000449064 ENSP00000388463
ENST00000451741 ENSP00000398177
ENST00000503687 ENSP00000421074
ENST00000510829 ENSP00000421124
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
Experimentally validated
Total 34 [view]
Protein-Protein 32 [view]
Protein-DNA 1 [view]
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 Q96MP8
TrEMBL B3KMF1 C9JDA2 C9JTB6 E7ERJ8 E9PHB8
UniProt Splice Variant
Entrez Gene 27342
UniGene Hs.530053 Hs.546627 Hs.627532
RefSeq NM_001167961 NM_014504 NM_153033
HUGO 21957
OMIM 609700 611725
CCDS CCDS55117 CCDS5534 CCDS5535
HPRD 13770
IMGT
EMBL AC006001 AC027644 AC079588 AK001702 AK056631 BC042482 CH236961 CH471140
GenPept AAH42482 BAB71236 BAG50963 EAL23735 EAX07919
ImmGen KCTD7 (murine)
RNA Seq Atlas 154881 27342