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UniProtKB - Q8N5Z5 (KCD17_HUMAN)

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Protein

BTB/POZ domain-containing protein KCTD17

Gene

KCTD17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100379.17
HGNCiHGNC:25705 KCTD17
MIMi616386 gene
neXtProtiNX_Q8N5Z5

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:rs786205860EnsemblClinVar.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

EPDiQ8N5Z5
MaxQBiQ8N5Z5
PeptideAtlasiQ8N5Z5
PRIDEiQ8N5Z5
ProteomicsDBi72116
72117 [Q8N5Z5-2]

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

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 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • cullin family protein binding Source: UniProtKB
  • identical protein binding Source: IntAct
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi122848, 78 interactors
IntActiQ8N5Z5, 24 interactors
MINTiQ8N5Z5

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

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
KOiK21914
OMAiGWKFEQM
OrthoDBiEOG091G0JJT
PhylomeDBiQ8N5Z5
TreeFamiTF313754

Family and domain databases

InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
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:rs786205860EnsemblClinVar.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 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
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: July 18, 2018
This is version 123 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

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