Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
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KCTD7 interacts with CUL3
"abrogated interaction with cullin-3"
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R184C variant abrogates CUL3 interaction and alters localization
"The identified variant altered the localization pattern of KCTD7 and abrogated interaction with cullin-3"
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Links KCTD7 to ubiquitin-proteasome system
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
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KCTD7 hyperpolarizes cells in K+-dependent manner
"wild-type KCTD7 hyperpolarizes cells in a K+ dependent manner"
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KCTD7 regulates SAT2/SLC38A2 glutamine transporter activity
"regulates activity of the neuronal glutamine transporter SAT2"
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Pathogenic variants impair K+ fluxes and glutamine transport
"the F232fs variant impairs K+ fluxes and obliterates SAT2-dependent glutamine transport"
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Patient CSF shows altered glutamate/glutamine levels
"The cerebrospinal fluid level of glutamate was decreased while glutamine was increased"
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
NEDD8:AcM-UBE2M binds CRL3 E3 ubiquitin ligase complex
AcM-UBE2M transfers NEDD8 to CRL3 E3 ubiquitin ligase complex
CAND1 binds cytosolic CRL E3 ubiquitin ligases
COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
Deep research review for KCTD7
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KCTD7 functions as BTB/POZ-domain adaptor that binds CUL3
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KCTD7-CUL3 complex visualized by cryo-EM in 2023
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Wild-type KCTD7 localizes to plasma membrane and cytoplasm
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Structural work shows homopentameric BTB assemblies
Cyberian deep research on KCTD7 function