Gene

kctd17

ID

ZDB-GENE-130531-80

Name

potassium channel tetramerization domain containing 17

Symbol

kctd17 Nomenclature History

Previous Names

si:ch73-139e5.3

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Predicted to enable cullin family protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to act upstream of or within protein homooligomerization. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in myoclonic dystonia 26. Orthologous to human KCTD17 (potassium channel tetramerization domain containing 17).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Allele	Type	Localization	Consequence	Mutagen	Supplier
sa42010	Allele with one point mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this) European Zebrafish Resource Center (EZRC) (order this)
sa42011	Allele with one point mutation	Unknown	Splice Site	ENU	Zebrafish International Resource Center (ZIRC) (order this)

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Sequence Targeting Reagents

No data available

Human Disease

Associated With kctd17 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
myoclonic dystonia 26	Alliance	Dystonia 26, myoclonic	616398

Associated With kctd17 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000210	BTB/POZ domain
Domain	IPR003131	Potassium channel tetramerisation-type BTB domain
Homologous_superfamily	IPR011333	SKP1/BTB/POZ domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M2B2U6	InterPro	315
UniProtKB:U3JA92	InterPro	299
UniProtKB:A0A8M9PSC5	InterPro	298
UniProtKB:A0AB32TZ72	InterPro	314

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 12

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	kctd17-201 (1) Ensembl	Ensembl		4,907 nt	Select Tool ZFIN BLAST
mRNA	kctd17-202 (1) Ensembl	Ensembl		924 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

No data available

Marker Relationships

Relationship	Marker Type	Marker	Accession Numbers	Citations
Contained in	BAC	CH73-139E5	CU462845	ZFIN Curated Data

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_068224757 (1)	4951 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CR354584 (1)	218091 nt	Select Tool MegaBLAST
Polypeptide	UniProtKB:A0A8M2B2U6 (1)	315 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	KCTD17	22	Ensembl:ENSG00000100379 Gene:79734 HGNC:25705 OMIM:616386	Conserved genome location (synteny) (1) Amino acid sequence comparison (1)
Mouse	Kctd17	15	Ensembl:ENSMUSG00000033287 Gene:72844 MGI:1920094	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)

Citations

Include unpublished citations

Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549

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