Homo sapiens Gene: KCTD7 | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 7:66628881-66811187 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q11.21 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 | |||||||||||||||||||