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Protein

BTB/POZ domain-containing protein KCTD17

Gene

KCTD17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).2 Publications

GO - Molecular functioni

  • cullin family protein binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • protein complex binding Source: GO_Central

GO - Biological processi

  • cell projection organization Source: UniProtKB-KW
  • endoplasmic reticulum calcium ion homeostasis Source: UniProtKB
  • positive regulation of cilium assembly Source: UniProtKB
  • proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
  • protein homooligomerization Source: InterPro

Keywordsi

Biological processCilium biogenesis/degradation, Ubl conjugation pathway

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD17
Gene namesi
Name:KCTD17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100379.17.
HGNCiHGNC:25705. KCTD17.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Dystonia 26, myoclonic (DYT26)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616398
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073806145R → H in DYT26; does not affect cytoplasmic subcellular location. 1 PublicationCorresponds to variant dbSNP:rs786205860Ensembl.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi79734.
MalaCardsiKCTD17.
MIMi616398. phenotype.
OpenTargetsiENSG00000100379.
PharmGKBiPA142671638.

Polymorphism and mutation databases

DMDMi205371782.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002478411 – 321BTB/POZ domain-containing protein KCTD17Add BLAST321

Proteomic databases

MaxQBiQ8N5Z5.
PeptideAtlasiQ8N5Z5.
PRIDEiQ8N5Z5.

PTM databases

iPTMnetiQ8N5Z5.
PhosphoSitePlusiQ8N5Z5.

Expressioni

Tissue specificityi

Highly expressed in brain. Highest expression is observed in the putamen and the thalamus.1 Publication

Gene expression databases

BgeeiENSG00000100379.
CleanExiHS_KCTD17.
ExpressionAtlasiQ8N5Z5. baseline and differential.
GenevisibleiQ8N5Z5. HS.

Organism-specific databases

HPAiHPA018459.

Interactioni

Subunit structurei

Interacts with TCHP. Interacts with CUL3, as part of the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • cullin family protein binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • protein complex binding Source: GO_Central

Protein-protein interaction databases

BioGridi122848. 76 interactors.
IntActiQ8N5Z5. 23 interactors.
MINTiMINT-1436480.

Structurei

Secondary structure

1321
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi31 – 37Combined sources7
Beta strandi40 – 45Combined sources6
Helixi46 – 49Combined sources4
Helixi56 – 61Combined sources6
Beta strandi76 – 78Combined sources3
Helixi82 – 84Combined sources3
Helixi85 – 94Combined sources10
Helixi105 – 115Combined sources11
Helixi118 – 126Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5A6RX-ray2.85A/B/C/D/E20-131[»]
ProteinModelPortaliQ8N5Z5.
SMRiQ8N5Z5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 101BTBAdd BLAST71

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili203 – 246Sequence analysisAdd BLAST44

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi258 – 311Pro-richAdd BLAST54

Keywords - Domaini

Coiled coil

Phylogenomic databases

GeneTreeiENSGT00530000062980.
HOGENOMiHOG000231167.
HOVERGENiHBG108056.
InParanoidiQ8N5Z5.
OMAiGWKFEQM.
OrthoDBiEOG091G0JJT.
PhylomeDBiQ8N5Z5.
TreeFamiTF313754.

Family and domain databases

InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
PfamiView protein in Pfam
PF02214. BTB_2. 1 hit.
SMARTiView protein in SMART
SM00225. BTB. 1 hit.
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N5Z5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQTPRPAMRM EAGEAAPPAG AGGRAAGGWG KWVRLNVGGT VFLTTRQTLC
60 70 80 90 100
REQKSFLSRL CQGEELQSDR DETGAYLIDR DPTYFGPILN FLRHGKLVLD
110 120 130 140 150
KDMAEEGVLE EAEFYNIGPL IRIIKDRMEE KDYTVTQVPP KHVYRVLQCQ
160 170 180 190 200
EEELTQMVST MSDGWRFEQL VNIGSSYNYG SEDQAEFLCV VSKELHSTPN
210 220 230 240 250
GLSSESSRKT KSTEEQLEEQ QQQEEEVEEV EVEQVQVEAD AQEKAQSSQD
260 270 280 290 300
PANLFSLPPL PPPPLPAGGS RPHPLRPEAE LAVRASPRPL ARPQSCHPCC
310 320
YKPEAPGCEA PDHLQGLGVP I
Length:321
Mass (Da):35,670
Last modified:September 2, 2008 - v3
Checksum:iDB80D4B4BD8CB7E7
GO
Isoform 2 (identifier: Q8N5Z5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     245-268: Missing.

Note: No experimental confirmation available.
Show »
Length:297
Mass (Da):33,276
Checksum:iF69D7CFFE51B0FC9
GO

Sequence cautioni

The sequence AAH25403 differs from that shown. The sequence differs in the N-terminus for unknown reasons.Curated
The sequence AAH31038 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6P → R in AAH31038 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02715751R → G1 PublicationCorresponds to variant dbSNP:rs17852877Ensembl.1
Natural variantiVAR_073806145R → H in DYT26; does not affect cytoplasmic subcellular location. 1 PublicationCorresponds to variant dbSNP:rs786205860Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_020072245 – 268Missing in isoform 2. 2 PublicationsAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL022314 Genomic DNA. Translation: CAQ07355.1.
AL022314 Genomic DNA. Translation: CAQ07356.1.
CH471095 Genomic DNA. Translation: EAW60139.1.
BC025403 mRNA. Translation: AAH25403.1. Sequence problems.
BC031038 mRNA. Translation: AAH31038.1. Different initiation.
AK022304 mRNA. Translation: BAB14007.1.
CCDSiCCDS13940.2. [Q8N5Z5-2]
CCDS74854.1. [Q8N5Z5-1]
RefSeqiNP_001269613.1. NM_001282684.1. [Q8N5Z5-1]
NP_001269614.1. NM_001282685.1.
NP_001269615.1. NM_001282686.1.
NP_078957.2. NM_024681.3. [Q8N5Z5-2]
UniGeneiHs.517597.

Genome annotation databases

EnsembliENST00000402077; ENSP00000384391; ENSG00000100379. [Q8N5Z5-2]
ENST00000403888; ENSP00000385096; ENSG00000100379. [Q8N5Z5-1]
GeneIDi79734.
KEGGihsa:79734.
UCSCiuc010gxb.5. human. [Q8N5Z5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCD17_HUMAN
AccessioniPrimary (citable) accession number: Q8N5Z5
Secondary accession number(s): B0QYA9, B0QYB0, O95517
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: September 2, 2008
Last modified: September 27, 2017
This is version 116 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references