KBTBD13 kelch repeat and BTB domain containing 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KBTBD13provided by HGNC
Official Full Name: kelch repeat and BTB domain containing 13provided by HGNC
Primary source: HGNC:HGNC:37227
See related: Ensembl:ENSG00000234438 MIM:613727; AllianceGenome:HGNC:37227
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NEM6; HCG1645727
Summary: The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]
Orthologs: mouse all
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Genomic context

Location:: 15q22.31

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (65076746..65079948)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (62886164..62889366)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (65369084..65372286)

Chromosome 15 - NC_000015.10 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.
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Title: NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Title: KBTBD13 is an actin-binding protein that modulates muscle kinetics.
these results demonstrate that KBTBD13 is a putative substrate adaptor for Cul3-RL that functions as a muscle specific ubiquitin ligase, and thereby implicate the ubiquitin proteasome pathway in the pathogenesis of KBTBD13-associated NEM.
Title: KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families
Title: Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nemaline myopathy 6 MedGen: C1836472 OMIM: 609273 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S155 (e-PCR), detects polymorphism
- UniSTS:83007

D15S125 (e-PCR)
- UniSTS:78193

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin filament binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
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
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

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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

Names: kelch repeat and BTB (POZ) domain containing 13; nemaline myopathy type 6

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.

Genomic

NG_021411.1 RefSeqGene

Range

5001..8123

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_682

mRNA and Protein(s)

NM_001101362.3 → NP_001094832.1 kelch repeat and BTB domain-containing protein 13

See identical proteins and their annotated locations for NP_001094832.1

Status: REVIEWED

Source sequence(s)

AC013553

Consensus CDS

CCDS45281.1

UniProtKB/Swiss-Prot

C9JR72

Related

ENSP00000388723.2, ENST00000432196.5

Conserved Domains (4) summary

smart00225
Location:13 → 101

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

cl02518
Location:7 → 101

BTB; BTB/POZ domain