Kbtbd13 kelch repeat and BTB (POZ) domain containing 13 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kbtbd13provided by MGI
Official Full Name: kelch repeat and BTB (POZ) domain containing 13provided by MGI
Primary source: MGI:MGI:1921742
See related: Ensembl:ENSMUSG00000054978 AllianceGenome:MGI:1921742
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 5430433E21Rik
Summary: Enables actin filament binding activity. Acts upstream of or within actin filament organization; regulation of the force of skeletal muscle contraction; and relaxation of skeletal muscle. Predicted to be located in Z disc. Used to study nemaline myopathy 6. Human ortholog(s) of this gene implicated in nemaline myopathy 6. Orthologous to human KBTBD13 (kelch repeat and BTB domain containing 13). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 9 C; 9 35.28 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (65295965..65299000, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (65388684..65391652, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KBTBD13 is a novel cardiomyopathy gene.
Title: KBTBD13 is a novel cardiomyopathy gene.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Title: KBTBD13 is an actin-binding protein that modulates muscle kinetics.

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Variation

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Alleles

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

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

General gene information

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Markers

BB096760 (e-PCR)
- UniSTS:208399

NoName (e-PCR)
- UniSTS:493343

NoName (e-PCR)
- UniSTS:236170

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of the force of skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of the force of skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of the force of skeletal muscle contraction	ISO Inferred from Sequence Orthology more info	PubMed
involved_in relaxation of skeletal muscle	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within relaxation of skeletal muscle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within relaxation of skeletal muscle	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in myofibril	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: kelch repeat and BTB domain-containing protein 13

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_028974.2 → NP_083250.1 kelch repeat and BTB domain-containing protein 13

See identical proteins and their annotated locations for NP_083250.1

Status: VALIDATED

Source sequence(s)

AC114645

Consensus CDS

CCDS57682.1

UniProtKB/Swiss-Prot

Q8C828

UniProtKB/TrEMBL

A4VCI8

Related

ENSMUSP00000136872.2, ENSMUST00000068307.4

Conserved Domains (3) summary

smart00225
Location:13 → 100

BTB; Broad-Complex, Tramtrack and Bric a brac

sd00038
Location:202 → 244

Kelch; KELCH repeat [structural motif]

pfam01344
Location:247 → 292

Kelch_1; Kelch motif