Kctd13 potassium channel tetramerisation domain containing 13 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kctd13provided by MGI
Official Full Name: potassium channel tetramerisation domain containing 13provided by MGI
Primary source: MGI:MGI:1923739
See related: Ensembl:ENSMUSG00000030685 AllianceGenome:MGI:1923739
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pdip1; Poldip1; PDIP1alpha; 1500003N18Rik
Summary: Enables identical protein binding activity. Involved in negative regulation of Rho protein signal transduction and positive regulation of synaptic transmission. Predicted to be located in nuclear body. Predicted to be part of Cul3-RING ubiquitin ligase complex. Is expressed in central nervous system and retina. Orthologous to human KCTD13 (potassium channel tetramerization domain containing 13). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cortex adult (RPKM 27.2), frontal lobe adult (RPKM 25.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 69.25 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (126528051..126544781)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (126928840..126947897)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13.
Title: KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13.
Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function.
Title: Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function.
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.
Title: Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.
these data suggest that KCTD13 contributes to the neurocognitive aspects of patients with the BP4-BP5 deletion, likely through genetic interactions with other loci.
Title: Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
Kctd13 deletion reduces synaptic transmission, which correlates with increased levels of RhoA, a KCTD13/CUL3 ubiquitin ligase substrate
Title: Kctd13 deletion reduces synaptic transmission via increased RhoA.
Study identifies Bacurd1/Kctd13 and Bacurd2/Tnfaip1 as interacting partners to RhoA GTPase proteins which influence the development of cortical neurons.
Title: Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons.
PDIP1 mRNA was expressed in 3T3-L1 adipocytes and THP-1 macrophages.
Title: Isolation and characterization of a transcriptional cofactor and its novel isoform that bind the deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.
Promoter of the mouse polymerase delta-interacting protein 1 gene (PDIP1) was characterized; it is regulated by the AP-2 and Sp-1 transcription factors.
Title: Genomic organization, promoter characterization and roles of Sp1 and AP-2 in the basal transcription of mouse PDIP1 gene.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
contributes_to ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Rho protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
NOT involved_in neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in stress fiber assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Cul3-RING ubiquitin ligase complex	ISO Inferred from Sequence Orthology more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1

Names: BTB/POZ domain-containing protein KCTD13; polymerase delta-interacting protein 1; tumor necrosis factor alpha-inducible protein PDIP1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172747.2 → NP_766335.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1

See identical proteins and their annotated locations for NP_766335.1

Status: PROVISIONAL

Source sequence(s)

AK075722

Consensus CDS

CCDS21851.1

UniProtKB/Swiss-Prot

Q6AXE9, Q8BGV7

Related

ENSMUSP00000032924.6, ENSMUST00000032924.6

Conserved Domains (2) summary

smart00225
Location:42 → 141

BTB; Broad-Complex, Tramtrack and Bric a brac

cl02518
Location:43 → 133

BTB; BTB/POZ domain