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
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 7:66628881-66811187
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 Q96MP8
TrEMBL A0A024RDL6 A0A024RDN7 B3KMF1 C9JDA2 C9JTB6 E9PFK9 E9PHB8 Q3HKR1
UniProt Splice Variant
Entrez Gene 27342
UniGene Hs.530053 Hs.546627 Hs.627532
RefSeq NM_001167961 NM_001287060 NM_001287061 NM_001287062 NM_014504 NM_153033
HUGO HGNC:17676 HGNC:21957
OMIM 609700 611725
CCDS CCDS55117 CCDS5534 CCDS5535 CCDS69308 CCDS75610
HPRD 13770
IMGT
EMBL AC006001 AC027644 AC079588 AK001702 AK056631 BC042482 CH236961 CH471140 DQ230535
GenPept AAH42482 ABA64475 BAB71236 BAG50963 EAL23735 EAX07914 EAX07916 EAX07919 EAX07920
ImmGen KCTD7 (murine)
RNA Seq Atlas 154881 27342