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Aliases for KBTBD13 Gene

Aliases for KBTBD13 Gene

  • Kelch Repeat And BTB Domain Containing 13 2 3
  • Kelch Repeat And BTB (POZ) Domain Containing 13 2 3 5
  • Nemaline Myopathy Type 6 2 3
  • HCG1645727 3
  • NEM6 3

External Ids for KBTBD13 Gene

Previous GeneCards Identifiers for KBTBD13 Gene

  • GC15P065369
  • GC15P042193
  • GC15P065099
  • GC15P065435

Summaries for KBTBD13 Gene

Entrez Gene Summary for KBTBD13 Gene

  • 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]

GeneCards Summary for KBTBD13 Gene

KBTBD13 (Kelch Repeat And BTB Domain Containing 13) is a Protein Coding gene. Diseases associated with KBTBD13 include nemaline myopathy 6, autosomal dominant and childhood-onset nemaline myopathy. An important paralog of this gene is KLHL36.

UniProtKB/Swiss-Prot for KBTBD13 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KBTBD13 Gene

Genomics for KBTBD13 Gene

Regulatory Elements for KBTBD13 Gene

Promoters for KBTBD13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KBTBD13 on UCSC Golden Path with GeneCards custom track

Genomic Location for KBTBD13 Gene

Chromosome:
15
Start:
65,076,816 bp from pter
End:
65,079,938 bp from pter
Size:
3,123 bases
Orientation:
Plus strand

Genomic View for KBTBD13 Gene

Genes around KBTBD13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KBTBD13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KBTBD13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD13 Gene

Proteins for KBTBD13 Gene

  • Protein details for KBTBD13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    C9JR72-KBTBD_HUMAN
    Recommended name:
    Kelch repeat and BTB domain-containing protein 13
    Protein Accession:
    C9JR72

    Protein attributes for KBTBD13 Gene

    Size:
    458 amino acids
    Molecular mass:
    49485 Da
    Quaternary structure:
    • Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and RBX1. Interacts with CUL3.

neXtProt entry for KBTBD13 Gene

Proteomics data for KBTBD13 Gene at MOPED

Post-translational modifications for KBTBD13 Gene

Other Protein References for KBTBD13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KBTBD13 Gene

Domains & Families for KBTBD13 Gene

Gene Families for KBTBD13 Gene

Protein Domains for KBTBD13 Gene

Suggested Antigen Peptide Sequences for KBTBD13 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

C9JR72

UniProtKB/Swiss-Prot:

KBTBD_HUMAN :
  • The BCB domain mediates the interaction with CUL3.
  • Contains 5 Kelch repeats.
Domain:
  • The BCB domain mediates the interaction with CUL3.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KBTBD13: view

Function for KBTBD13 Gene

Molecular function for KBTBD13 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.

Gene Ontology (GO) - Molecular Function for KBTBD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KBTBD13: view

Human Phenotype Ontology for KBTBD13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for KBTBD13 Gene

Localization for KBTBD13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KBTBD13 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KBTBD13 Gene COMPARTMENTS Subcellular localization image for KBTBD13 gene
Compartment Confidence
endoplasmic reticulum 3
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for KBTBD13 Gene

Pathways & Interactions for KBTBD13 Gene

SuperPathways for KBTBD13 Gene

No Data Available

UniProtKB/Swiss-Prot C9JR72-KBTBD_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for KBTBD13 Gene

Gene Ontology (GO) - Biological Process for KBTBD13 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KBTBD13 Gene

Drugs & Compounds for KBTBD13 Gene

No Compound Related Data Available

Transcripts for KBTBD13 Gene

mRNA/cDNA for KBTBD13 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KBTBD13 Gene

Kelch repeat and BTB (POZ) domain containing 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KBTBD13 Gene

No ASD Table

Relevant External Links for KBTBD13 Gene

GeneLoc Exon Structure for
KBTBD13
ECgene alternative splicing isoforms for
KBTBD13

Expression for KBTBD13 Gene

mRNA expression in normal human tissues for KBTBD13 Gene

mRNA differential expression in normal tissues according to GTEx for KBTBD13 Gene

This gene is overexpressed in Muscle - Skeletal (x14.1), Heart - Left Ventricle (x11.7), Artery - Tibial (x6.0), and Heart - Atrial Appendage (x5.9).

SOURCE GeneReport for Unigene cluster for KBTBD13 Gene Hs.586890

mRNA Expression by UniProt/SwissProt for KBTBD13 Gene

C9JR72-KBTBD_HUMAN
Tissue specificity: Expressed in skeletal muscle.
genes like me logo Genes that share expression patterns with KBTBD13: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KBTBD13 Gene

Orthologs for KBTBD13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KBTBD13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KBTBD13 35
  • 99.08 (n)
  • 99.31 (a)
KBTBD13 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KBTBD13 36
  • 90 (a)
OneToOne
KBTBD13 35
  • 88.43 (n)
  • 89.52 (a)
dog
(Canis familiaris)
Mammalia KBTBD13 35
  • 91.27 (n)
  • 93.64 (a)
mouse
(Mus musculus)
Mammalia Kbtbd13 16
Kbtbd13 35
  • 83.11 (n)
  • 86.24 (a)
Kbtbd13 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KBTBD13 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD13 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD13 35
  • 69.7 (n)
  • 64.09 (a)
KBTBD13 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KBTBD13 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489313 35
  • 57.11 (n)
  • 55.5 (a)
zebrafish
(Danio rerio)
Actinopterygii KBTBD13 (1 of 3) 36
  • 48 (a)
OneToMany
KBTBD13 (2 of 3) 36
  • 49 (a)
OneToMany
KBTBD13 (3 of 3) 36
  • 53 (a)
OneToMany
Species with no ortholog for KBTBD13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KBTBD13 Gene

ENSEMBL:
Gene Tree for KBTBD13 (if available)
TreeFam:
Gene Tree for KBTBD13 (if available)

Paralogs for KBTBD13 Gene

genes like me logo Genes that share paralogs with KBTBD13: view

Variants for KBTBD13 Gene

Sequence variations from dbSNP and Humsavar for KBTBD13 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_064889 Nemaline myopathy 6 (NEM6)
VAR_064890 Nemaline myopathy 6 (NEM6)
VAR_064891 Nemaline myopathy 6 (NEM6)
rs6494511 -- 65,080,118(+) CAttc(A/T)ttttt downstream-variant-500B
rs16948496 -- 65,079,803(+) CTCGC(A/G)CCAGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KBTBD13 Gene

Variant ID Type Subtype PubMed ID
nsv904308 CNV Loss 21882294
nsv827363 CNV Gain 20364138

Variation tolerance for KBTBD13 Gene

Gene Damage Index Score: 2.38; 42.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KBTBD13 Gene

HapMap Linkage Disequilibrium report
KBTBD13
Human Gene Mutation Database (HGMD)
KBTBD13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KBTBD13 Gene

Disorders for KBTBD13 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KBTBD13 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KBTBD_HUMAN
  • Nemaline myopathy 6 (NEM6) [MIM:609273]: A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. {ECO:0000269 PubMed:21109227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KBTBD13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KBTBD13
genes like me logo Genes that share disorders with KBTBD13: view

No data available for Genatlas for KBTBD13 Gene

Publications for KBTBD13 Gene

  1. KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. (PMID: 22542517) Sambuughin N. … Maynard E. (Biochem. Biophys. Res. Commun. 2012) 2 3 4 67
  2. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (PMID: 21109227) Sambuughin N. … Goldfarb L.G. (Am. J. Hum. Genet. 2010) 2 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Sequence and structural analysis of BTB domain proteins. (PMID: 16207353) Stogios P.J. … PrivAc G.G. (Genome Biol. 2005) 3
  5. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. (PMID: 12805120) Gommans I.M. … Kremer H. (Brain 2003) 3

Products for KBTBD13 Gene

Sources for KBTBD13 Gene

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