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FLASH GENE

Symbol

KCTD17

contributors: mct - updated : 30-06-2015

HGNC name	potassium channel tetramerisation domain containing 17
HGNC id	25705

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DYT26 myoclonic dystonia 26
Location	22q12.3      Physical location : 37.447.778 - 37.459.429
Synonym symbol(s)	FLJ12242

DNA

TYPE	functioning gene
STRUCTURE	11.67 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001282684 9 - 1779 NP_001269613 - 321 - - NM_001282685 7 - 1607 NP_001269614 - 225 - - NM_024681 8 - 1707 NP_078957 - 297 - - NM_001282686 6 - 1516 NP_001269615 - 220 - -

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly Nervous brain diencephalon thalamus   highly Homo sapiens Adult   brain basal nuclei putamen   predominantly Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

BTB/POZ domain

HOMOLOGY

interspecies

ortholog to murine Kctd17

Homologene

FAMILY

KCTD family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	contributes to the ubiquitin-proteasome machinery, acting as an adaptor for the CUL3-RING E3 ligase and targeting substrates for degradation through polyubiquitinylation
	involved in regulation of cellular proliferation, gene transcription, cytosketelon organization, protein degradation targeting via the ubiquitin-proteasome system, and regulation of G protein-coupled receptors
	potential relevant contribution of KCTD17 to regulation of dopaminergic transmission in the putamen

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

KCTD17 is a substrate-adaptor for Cul3-RING E3 ligases (CRL3) that polyubiquitylates trichoplein, and CRL3-KCTD17 targets trichoplein to proteolysis to initiate the axoneme extension during ciliogenesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DYT26

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   specifically arrests ciliogenesis at the initial step of axoneme extension through aberrant trichoplein-Aurora-A activity

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS