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Aliases for KBTBD13 Gene

Aliases for KBTBD13 Gene

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

External Ids for KBTBD13 Gene

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 (POZ) Domain Containing 13) is a Protein Coding gene. Diseases associated with KBTBD13 include childhood-onset nemaline myopathy and kbtbd13-related 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

Genomic Location for KBTBD13 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KBTBD13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KBTBD13 Gene

No data available for Regulatory Elements 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
    Secondary Accessions:

    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 for KBTBD13 Gene

Gene Families for KBTBD13 Gene

HGNC:
  • BTBD :BTB/POZ domain containing

Protein Domains for KBTBD13 Gene

UniProtKB/Swiss-Prot:

KBTBD_HUMAN
Domain:
  • The BCB domain mediates the interaction with CUL3:
    • C9JR72
  • Contains 1 BTB (POZ) domain.:
    • C9JR72
Similarity:
  • Contains 5 Kelch repeats.:
    • C9JR72
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:0005515 protein binding --
genes like me logo Genes that share ontologies with KBTBD13: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for KBTBD13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with KBTBD13: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with KBTBD13: view

No data available for Pathways by source for KBTBD13 Gene

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 (14.1), Heart - Left Ventricle (11.7), Artery - Tibial (6.0), and Heart - Atrial Appendage (5.9).

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 expressions with KBTBD13: view

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 36
  • 99.08 (n)
  • 99.31 (a)
KBTBD13 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KBTBD13 36
  • 88.43 (n)
  • 89.52 (a)
KBTBD13 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KBTBD13 36
  • 91.27 (n)
  • 93.64 (a)
mouse
(Mus musculus)
Mammalia Kbtbd13 36
  • 83.11 (n)
  • 86.24 (a)
Kbtbd13 16
Kbtbd13 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KBTBD13 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KBTBD13 37
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves KBTBD13 36
  • 69.7 (n)
  • 64.09 (a)
KBTBD13 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KBTBD13 37
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489313 36
  • 57.11 (n)
  • 55.5 (a)
zebrafish
(Danio rerio)
Actinopterygii KBTBD13 (1 of 3) 37
  • 48 (a)
OneToMany
KBTBD13 (2 of 3) 37
  • 49 (a)
OneToMany
KBTBD13 (3 of 3) 37
  • 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 MAF
rs2919358 Benign 65,077,057(+) GCAGG(C/T)CGTGG reference, missense
rs2919359 Benign 65,077,613(+) GGCGA(A/G)TTCCA reference, synonymous-codon
rs2919360 Benign 65,078,015(+) CGCGG(C/T)GACAC synonymous-codon, reference
rs2946640 -- 65,075,238(+) TTCTC(A/G)CCGGG upstream-variant-2KB
rs2946641 -- 65,076,322(+) tcctg(A/G)ggcca upstream-variant-2KB

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

Relevant External Links for KBTBD13 Gene

HapMap Linkage Disequilibrium report
KBTBD13
Human Gene Mutation Database (HGMD)
KBTBD13
Locus Specific Mutation Databases (LSDB)
KBTBD13

Disorders for KBTBD13 Gene

(1) OMIM Diseases for KBTBD13 Gene (613727)

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.

(1) University of Copenhagen DISEASES for KBTBD13 Gene

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

Publications for KBTBD13 Gene

  1. 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 4
  2. 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
  3. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 4
  4. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 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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