UniProtKB - Q8N5Z5 (KCD17_HUMAN)
BTB/POZ domain-containing protein KCTD17
KCTD17
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 PublicationsGO - Molecular functioni
- cullin family protein binding Source: UniProtKB
- identical protein binding Source: IntAct
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 process | Cilium biogenesis/degradation, Ubl conjugation pathway |
Enzyme and pathway databases
PathwayCommonsi | Q8N5Z5 |
SignaLinki | Q8N5Z5 |
Names & Taxonomyi
Protein namesi | Recommended name: BTB/POZ domain-containing protein KCTD17 |
Gene namesi | Name:KCTD17 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25705, KCTD17 |
MIMi | 616386, gene |
neXtProti | NX_Q8N5Z5 |
VEuPathDBi | HostDB:ENSG00000100379 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: GOC
Other locations
- Cul3-RING ubiquitin ligase complex Source: UniProtKB
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Dystonia 26, myoclonic (DYT26)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073806 | 145 | R → H in DYT26; does not affect cytoplasmic subcellular location. 1 PublicationCorresponds to variant dbSNP:rs786205860Ensembl. | 1 |
Keywords - Diseasei
Disease variant, DystoniaOrganism-specific databases
DisGeNETi | 79734 |
MalaCardsi | KCTD17 |
MIMi | 616398, phenotype |
OpenTargetsi | ENSG00000100379 |
Orphaneti | 36899, Myoclonus-dystonia syndrome |
PharmGKBi | PA142671638 |
Miscellaneous databases
Pharosi | Q8N5Z5, Tbio |
Genetic variation databases
BioMutai | KCTD17 |
DMDMi | 205371782 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000247841 | 1 – 321 | BTB/POZ domain-containing protein KCTD17Add BLAST | 321 |
Proteomic databases
EPDi | Q8N5Z5 |
jPOSTi | Q8N5Z5 |
MassIVEi | Q8N5Z5 |
MaxQBi | Q8N5Z5 |
PeptideAtlasi | Q8N5Z5 |
PRIDEi | Q8N5Z5 |
ProteomicsDBi | 72116 [Q8N5Z5-1] 72117 [Q8N5Z5-2] |
PTM databases
iPTMneti | Q8N5Z5 |
PhosphoSitePlusi | Q8N5Z5 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000100379, Expressed in caudate nucleus and 216 other tissues |
ExpressionAtlasi | Q8N5Z5, baseline and differential |
Genevisiblei | Q8N5Z5, HS |
Organism-specific databases
HPAi | ENSG00000100379, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Homopentamer; forms an closed pentamer (PubMed:28963344).
Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (PubMed:28963344).
Interacts with TCHP (PubMed:25270598).
Interacts with CUL3, as part of the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1 (PubMed:25270598).
2 PublicationsBinary interactionsi
Q8N5Z5
Isoform 2 [Q8N5Z5-2]
With | #Exp. | IntAct |
---|---|---|
STK16 [O75716] | 3 | EBI-10189368,EBI-749295 |
GO - Molecular functioni
- cullin family protein binding Source: UniProtKB
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 122848, 125 interactors |
IntActi | Q8N5Z5, 94 interactors |
MINTi | Q8N5Z5 |
STRINGi | 9606.ENSP00000385096 |
Miscellaneous databases
RNActi | Q8N5Z5, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q8N5Z5 |
SMRi | Q8N5Z5 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 31 – 101 | BTBAdd BLAST | 71 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 25 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 197 – 275 | DisorderedSequence analysisAdd BLAST | 79 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 203 – 246 | Sequence analysisAdd BLAST | 44 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 219 – 236 | Acidic residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 240 – 254 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 255 – 271 | Pro residuesSequence analysisAdd BLAST | 17 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG2715, Eukaryota |
GeneTreei | ENSGT00940000161746 |
HOGENOMi | CLU_070830_2_0_1 |
InParanoidi | Q8N5Z5 |
OMAi | SCHACCY |
OrthoDBi | 1333587at2759 |
PhylomeDBi | Q8N5Z5 |
TreeFami | TF313754 |
Family and domain databases
Gene3Di | 3.30.710.10, 1 hit |
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR011333, SKP1/BTB/POZ_sf IPR003131, T1-type_BTB |
Pfami | View protein in Pfam PF02214, BTB_2, 1 hit |
SMARTi | View protein in SMART SM00225, BTB, 1 hit |
SUPFAMi | SSF54695, SSF54695, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WX35 | A0A087WX35_HUMAN | BTB/POZ domain-containing protein K... | KCTD17 | 213 | Annotation score: | ||
B0QYB2 | B0QYB2_HUMAN | BTB/POZ domain-containing protein K... | KCTD17 | 63 | Annotation score: | ||
H0Y731 | H0Y731_HUMAN | BTB/POZ domain-containing protein K... | KCTD17 | 180 | Annotation score: | ||
H7C323 | H7C323_HUMAN | BTB/POZ domain-containing protein K... | KCTD17 | 104 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 6 | P → R in AAH31038 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027157 | 51 | R → G1 PublicationCorresponds to variant dbSNP:rs17852877Ensembl. | 1 | |
Natural variantiVAR_073806 | 145 | R → H in DYT26; does not affect cytoplasmic subcellular location. 1 PublicationCorresponds to variant dbSNP:rs786205860Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_020072 | 245 – 268 | Missing in isoform 2. 2 PublicationsAdd BLAST | 24 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL022314 Genomic DNA No translation available. 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 |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000402077.8; ENSP00000384391.4; ENSG00000100379.18 ENST00000403888.8; ENSP00000385096.4; ENSG00000100379.18 |
GeneIDi | 79734 |
KEGGi | hsa:79734 |
MANE-Selecti | ENST00000403888.8; ENSP00000385096.4; NM_001282684.2; NP_001269613.2 |
UCSCi | uc010gxb.5, human [Q8N5Z5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL022314 Genomic DNA No translation available. 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 |
RefSeqi | NP_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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5A6R | X-ray | 2.85 | A/B/C/D/E | 20-131 | [»] | |
AlphaFoldDBi | Q8N5Z5 | |||||
SMRi | Q8N5Z5 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122848, 125 interactors |
IntActi | Q8N5Z5, 94 interactors |
MINTi | Q8N5Z5 |
STRINGi | 9606.ENSP00000385096 |
PTM databases
iPTMneti | Q8N5Z5 |
PhosphoSitePlusi | Q8N5Z5 |
Genetic variation databases
BioMutai | KCTD17 |
DMDMi | 205371782 |
Proteomic databases
EPDi | Q8N5Z5 |
jPOSTi | Q8N5Z5 |
MassIVEi | Q8N5Z5 |
MaxQBi | Q8N5Z5 |
PeptideAtlasi | Q8N5Z5 |
PRIDEi | Q8N5Z5 |
ProteomicsDBi | 72116 [Q8N5Z5-1] 72117 [Q8N5Z5-2] |
Protocols and materials databases
Antibodypediai | 11878, 117 antibodies from 20 providers |
DNASUi | 79734 |
Genome annotation databases
Ensembli | ENST00000402077.8; ENSP00000384391.4; ENSG00000100379.18 ENST00000403888.8; ENSP00000385096.4; ENSG00000100379.18 |
GeneIDi | 79734 |
KEGGi | hsa:79734 |
MANE-Selecti | ENST00000403888.8; ENSP00000385096.4; NM_001282684.2; NP_001269613.2 |
UCSCi | uc010gxb.5, human [Q8N5Z5-1] |
Organism-specific databases
CTDi | 79734 |
DisGeNETi | 79734 |
GeneCardsi | KCTD17 |
HGNCi | HGNC:25705, KCTD17 |
HPAi | ENSG00000100379, Tissue enhanced (brain) |
MalaCardsi | KCTD17 |
MIMi | 616386, gene 616398, phenotype |
neXtProti | NX_Q8N5Z5 |
OpenTargetsi | ENSG00000100379 |
Orphaneti | 36899, Myoclonus-dystonia syndrome |
PharmGKBi | PA142671638 |
VEuPathDBi | HostDB:ENSG00000100379 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2715, Eukaryota |
GeneTreei | ENSGT00940000161746 |
HOGENOMi | CLU_070830_2_0_1 |
InParanoidi | Q8N5Z5 |
OMAi | SCHACCY |
OrthoDBi | 1333587at2759 |
PhylomeDBi | Q8N5Z5 |
TreeFami | TF313754 |
Enzyme and pathway databases
PathwayCommonsi | Q8N5Z5 |
SignaLinki | Q8N5Z5 |
Miscellaneous databases
BioGRID-ORCSi | 79734, 11 hits in 1069 CRISPR screens |
GenomeRNAii | 79734 |
Pharosi | Q8N5Z5, Tbio |
PROi | PR:Q8N5Z5 |
RNActi | Q8N5Z5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100379, Expressed in caudate nucleus and 216 other tissues |
ExpressionAtlasi | Q8N5Z5, baseline and differential |
Genevisiblei | Q8N5Z5, HS |
Family and domain databases
Gene3Di | 3.30.710.10, 1 hit |
InterProi | View protein in InterPro IPR000210, BTB/POZ_dom IPR011333, SKP1/BTB/POZ_sf IPR003131, T1-type_BTB |
Pfami | View protein in Pfam PF02214, BTB_2, 1 hit |
SMARTi | View protein in SMART SM00225, BTB, 1 hit |
SUPFAMi | SSF54695, SSF54695, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KCD17_HUMAN | |
Accessioni | Q8N5Z5Primary (citable) accession number: Q8N5Z5 Secondary accession number(s): B0QYA9, B0QYB0, O95517 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 25, 2006 |
Last sequence update: | September 2, 2008 | |
Last modified: | May 25, 2022 | |
This is version 145 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references