KCTD17
entrez
79734
canonical
uniprot
Q8N5Z5
canonical
ensembl
ENSG00000100379
resolver
ensp
ENSP00000384391
resolver
ensp
ENSP00000385096
resolver
ensp
ENSP00000409638
resolver
ensp
ENSP00000480699
resolver
ensp
ENSP00000646736
resolver
ensp
ENSP00000681779
resolver
ensp
ENSP00000789908
resolver
enst
ENST00000610767
resolver
genesymbol
KCTD17
resolver
hgnc
HGNC:25705
resolver
uniprot
A0A087WX35
resolver
uniprot
B0QYA9
resolver
uniprot
B0QYB0
resolver
uniprot
O95517
resolver
uniprot_entry
A0A087WX35_HUMAN
resolver
uniprot_entry
KCD17_HUMAN
resolver
uniprot_sec
B0QYA9
resolver
uniprot_sec
B0QYB0
resolver
uniprot_sec
O95517
resolver
amino_acid_sequence
MRMEAGEAAPPAGAGGRAAGGWGKWVRLNVGGTVFLTTRQTLCREQKSFLSRLCQGEELQSDRDETGAYLIDRDPTYFGPILNFLRHGKLVLDKDMAEEGVLEEAEFYNIGPLIRIIKDRMEEKDYTVTQVPPKHVYRVLQCQEEELTQMVSTMSDGWRFEQLVNIGSSYNYGSEDQAEFLCVVSKELHSTPNGLSSESSRKTKSTEEQLEEQQQQEEEVEEVEVEQVQVEADAQEKAQSSQDPANLFSLPPLPPPPLPAGGSRPHPLRPEAELAVRASPRPLARPQSCHPCCYKPEAPGCEAPDHLQGLGVPI
uniprot
proteins
disease_involvement
DISEASE: Dystonia 26, myoclonic (DYT26) [MIM:616398]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. {ECO:0000269|PubMed:25983243}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediates the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. Thereby, positively regulates ciliogenesis, playing a crucial role in the initial steps of axoneme extension (PubMed:25270598). May also play a role in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243). {ECO:0000269|PubMed:25270598, ECO:0000269|PubMed:25983243}.
uniprot
proteins
mass_dalton
34888
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
25270598
uniprot
proteins
pubmed
25983243
uniprot
proteins
pubmed
28963344
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25983243}.
uniprot
proteins