Gene

kctd1

ID

ZDB-GENE-040724-194

Name

potassium channel tetramerization domain containing 1

Symbol

kctd1 Nomenclature History

Previous Names

si:ch211-192k9.2

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to act upstream of or within protein homooligomerization. Human ortholog(s) of this gene implicated in scalp-ear-nipple syndrome. Orthologous to human KCTD1 (potassium channel tetramerization domain containing 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

GEO (1)

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
sa7468	Allele with one point mutation	Unknown	Missense	ENU

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Sequence Targeting Reagents

No data available

Human Disease

Associated With kctd1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
scalp-ear-nipple syndrome	Alliance	Scalp-ear-nipple syndrome	181270

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Associated With kctd1 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
Domain	IPR021893	Domain of unknown function DUF3504
Domain	IPR048595	BTB/POZ domain-containing protein KCTD1/15-like, C-terminal domain
Domain	IPR048599	BTB/POZ domain-containing protein KCTD1, BTB/POZ domain

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Domain Details Per Protein

Protein	Additional Resources	Length	BTB/POZ domain	BTB/POZ domain-containing protein KCTD1/15-like, C-terminal domain	BTB/POZ domain-containing protein KCTD1, BTB/POZ domain	Domain of unknown function DUF3504	Mitochondrial antiviral-signaling domain-containing protein	Potassium channel tetramerisation-type BTB domain	SKP1/BTB/POZ domain superfamily
UniProtKB:Q5SNS9	InterPro	271
UniProtKB:A0A8M3ALF6	InterPro	754

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Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Genome Build: GRCz11Chromosome: 20

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	kctd1-201 (1) Ensembl	Ensembl	2,105 nt	Select Tool ZFIN BLAST
mRNA	kctd1-202 (1) Ensembl	Ensembl	852 nt	Select Tool ZFIN BLAST
mRNA	kctd1-203 (1) Ensembl	Ensembl	2,465 nt	Select Tool ZFIN BLAST

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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	CH211-192K9	AL954739

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Sequences

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_005160473 (1)		Select Tool ZFIN BLAST NCBI BLAST MegaBLAST Ensembl UCSC BLAT
Genomic	GenBank:AL954739 (1)	154604 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A8M3ALF6 (1)	754 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Species	Symbol	Chromosome	Accession #	Evidence
Human	KCTD1	18	Ensembl:ENSG00000134504 Gene:284252 HGNC:18249 OMIM:613420	Amino acid sequence comparison (1) Conserved genome location (synteny) (1)
Mouse	Kctd1	18	Ensembl:ENSMUSG00000036225 Gene:106931 MGI:1918269	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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