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

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Summary

Official Symbol: KBTBD13provided by HGNC
Official Full Name: kelch repeat and BTB (POZ) domain containing 13provided by HGNC
Primary source: HGNC:37227
Locus tag: hCG_1645727
See related: Ensembl:ENSG00000234438; MIM:613727; Vega:OTTHUMG00000172424
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]

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Genomic context

Location :: 15q22.31

Sequence :: Chromosome: 15; NC_000015.9 (65369154..65372276)

See KBTBD13 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: kelch repeat and BTB domain-containing protein 13

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NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

NM_001101362.2 → NP_001094832.1 kelch repeat and BTB domain-containing protein 13

Status: REVIEWED

Source sequence(s)

AC013553, DB331058

Consensus CDS

CCDS45281.1

UniProtKB/Swiss-Prot

C9JR72

Related

ENSP00000388723, OTTHUMP00000255396, ENST00000432196, OTTHUMT00000418468

Conserved Domains (3) summary

PHA03098
Location:201 – 393
Blast Score: 196

PHA03098; kelch-like protein; Provisional

cl02518
Location:13 – 101
Blast Score: 138

BTB; BTB/POZ domain

cl02701
Location:247 – 292
Blast Score: 132

Kelch_3; Galactose oxidase, central domain