KCTD7
entrez
154881
canonical
uniprot
Q96MP8
canonical
ensembl
ENSG00000243335
resolver
ensp
ENSP00000411624
resolver
ensp
ENSP00000492240
resolver
genesymbol
KCTD7
resolver
hgnc
HGNC:21957
resolver
uniprot
A4D2M4
resolver
uniprot
Q8IVR0
resolver
uniprot_entry
KCTD7_HUMAN
resolver
uniprot_sec
A4D2M4
resolver
uniprot_sec
Q8IVR0
resolver
amino_acid_sequence
MVVVTGREPDSRRQDGAMSSSDAEDDFLEPATPTATQAGHALPLLPQEFPEVVPLNIGGAHFTTRLSTLRCYEDTMLAAMFSGRHYIPTDSEGRYFIDRDGTHFGDVLNFLRSGDLPPRERVRAVYKEAQYYAIGPLLEQLENMQPLKGEKVRQAFLGLMPYYKDHLERIVEIARLRAVQRKARFAKLKVCVFKEEMPITPYECPLLNSLRFERSESDGQLFEHHCEVDVSFGPWEAVADVYDLLHCLVTDLSAQGLTVDHQCIGVCDKHLVNHYYCKRPIYEFKITWW
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]: A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM3 is an autosomal recessive, severe, form with early onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include intellectual disability, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis. {ECO:0000269|PubMed:17455289, ECO:0000269|PubMed:22606975, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:22693283, ECO:0000269|PubMed:22748208}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in KCTD7 are a cause of opsoclonus-myoclonus ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a rare pervasive and frequently permanent disorder that usually develops in previously healthy children with normal premorbid psychomotor development and characterized by association of abnormal eye movements (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia, functional regression, and behavioral problems. The syndrome is considered to be an immune-mediated disorder and may be tumor-associated or idiopathic. OMS is one of a few steroid responsive disorders of childhood. KCTD7 mutations have been found in a patient with an atypical clinical presentation characterized by non-epileptic myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-like eye movements, improvement of clinical symptoms under steroid treatment, and subsequent development of generalized epilepsy (PubMed:22638565). {ECO:0000269|PubMed:22638565}.
uniprot
proteins
function
FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that mediates the ubiquitination of multiple substrates, leading to either their proteasomal or lysosomal degradation, or modulating their activity through non-degradative ubiquitination (PubMed:36964131, PubMed:35921411). Regulates voltage-gated potassium channels, thereby modulating hyperpolarizing potassium currents in neurons and inducing potassium-dependent membrane hyperpolarization. Also regulates the neuronal glutamine transporter SLC38A2/SAT2, influencing neurotransmitter precursor availability (PubMed:27742667). Regulates calpain activity via atypical, non-degradative ubiquitination by mediating ubiquitination of CAPN1 via 'Lys6'-, 'Lys27'-, 'Lys29'-, and 'Lys63'-linked chains, and CAPN2 via 'Lys6'-linked chains, thereby preventing calpain autolysis (PubMed:36964131). Promotes lysosomal enzyme trafficking and maintains lysosomal function by acting as an endogenous regulator of CLN5, enhancing its ubiquitination and proteasomal degradation (PubMed:35921411). {ECO:0000250|UniProtKB:Q8BJK1, ECO:0000269|PubMed:27742667, ECO:0000269|PubMed:35921411, ECO:0000269|PubMed:36964131}.
uniprot
proteins
mass_dalton
33132
uniprot
proteins
mutagenesis
MUTAGEN 276; /note="Y->C: Abolished K(+) fluxes."; /evidence="ECO:0000269|PubMed:27742667
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17455289
uniprot
proteins
pubmed
22606975
uniprot
proteins
pubmed
22612257
uniprot
proteins
pubmed
22638565
uniprot
proteins
pubmed
22693283
uniprot
proteins
pubmed
22748208
uniprot
proteins
pubmed
27742667
uniprot
proteins
pubmed
35921411
uniprot
proteins
pubmed
36964131
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27742667}. Cytoplasm {ECO:0000269|PubMed:36964131}.
uniprot
proteins