KBTBD13 Gene
protein-coding GIFtS: 35
GCID: GC15P065369
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|
kelch repeat and BTB (POZ) domain containing 13
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Aliases
for KBTBD13 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Kelch Repeat And BTB (POZ) Domain Containing 131 2 | | NEM61 2 5 | | HCG_16457271 | | HCG16457272 | | Kelch Repeat And BTB Domain-Containing Protein 132 | | Nemaline Myopathy Type 62 |
Export aliases for KBTBD13 gene to outside databasesPrevious GC identifer: GC15P042193 |
Summaries
for KBTBD13 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KBTBD13:
The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTBdomain functions as a protein-protein interaction module, which includes an ability to self-associate or to interactwith non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and hasbeen found in proteins with diverse functions. Known functions of these family members include transcriptionregulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeletonregulation. The exact function of this family member has yet to be determined. (provided by RefSeq, Jun 2010)
UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex
|
Genomic Views
for KBTBD13 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for KBTBD13
Other transcription factors
Search SABiosciences Chromatin IP Primers for KBTBD13
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KBTBD13 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q22.31 Ensembl cytogenetic band: 15q22.31 HGNC cytogenetic band: 15q22.31KBTBD13 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15P065369: view genomic region
(about GC identifiers)
Start:
|
65,369,154 bp from pter |
End:
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65,372,276 bp from pter |
Size:
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3,123 bases |
Orientation:
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plus strand |
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Proteins
for KBTBD13 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72 (See
protein sequence)Recommended Name: Kelch repeat and BTB domain-containing protein 13 Size: 458 amino acids; 49485 Da
Subunit: Component of the BCR(KBTBD13) E3 ubiquitin ligase complex, at least composed of CUL3 and KBTBD13 and RBX1.Interacts with CUL3
Subcellular location: CytoplasmExplore the universe of human proteins at neXtProt for KBTBD13: NX_C9JR72
Post-translational modifications:
Autoubiquitinated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_C9JR72
KBTBD13 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001094832.1
ENSEMBL proteins: ENSP00000388723
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005737 | cytoplasm |
IEA | -- |
KBTBD13 for ontologies About GeneDecksing
KBTBD13 Antibody Products:
Assay Products for KBTBD13: |
Protein
Domains /
Families
for KBTBD13 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KBTBD13 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry C9JR72ProtoNet protein and cluster: C9JR72 UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72Domain: The BCB domain mediates the interaction with CUL3Similarity: Contains 1 BTB (POZ) domainSimilarity: Contains 5 Kelch repeats |
Function
for KBTBD13 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex
Clone
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD13 |
|
Pathways & Interactions
for KBTBD13 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72Pathway: Protein modification; protein ubiquitinationInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KBTBD13
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for KBTBD13 (ENSP000003887234) via UniProtKB, MINT, STRING, and/or I2D About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016567 | protein ubiquitination |
IEA | -- |
KBTBD13 for ontologies About GeneDecksing
|
Drugs & Compounds
for KBTBD13 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for KBTBD13
Search CenterWatch for drugs/clinical trials and news about KBTBD13 / KBTBD
|
Transcripts
for KBTBD13 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KBTBD13 gene: NM_001101362.2 Unigene Cluster for KBTBD13: Kelch repeat and BTB (POZ) domain containing 13 Hs.586890 [show with all ESTs]Unigene Representative Sequence: NM_0011013621 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000432196(uc010uis.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD13 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KBTBD13
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KBTBD13 (NM_001101362) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KBTBD13 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat KBTBD13 |
1 DOTS entry: DT.65286614
GeneLoc Exon Structure
|
Expression
for KBTBD13 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KBTBD13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCACGCTGC
About this image
See KBTBD13 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.586890
UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72Tissue specificity: Expressed in skeletal muscle
SABiosciences Custom PCR Arrays for KBTBD13
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KBTBD13
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD13 |
Orthologs
for KBTBD13 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KBTBD13 gene from 4/11 species (see all 11) About this table
ENSEMBL Gene Tree for KBTBD13 (if available)
TreeFam Gene Tree for KBTBD13 (if available) |
Paralogs
for KBTBD13 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KBTBD13 gene
- KLHL422 KLHL132 KLHL222 KLHL262 KLHL342 KBTBD112 KLHL312 KLHL92
- KLHL322 KLHL142 KLHDC7B2 KLHL152 KLHL362 KLHL332 KLHDC7A2
KBTBD13 for paralogs About GeneDecksing
|
Genomic Variants
for KBTBD13 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KBTBD13 (65369154 - 65372276 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KBTBD13: --
Human Gene Mutation Database (HGMD): KBTBD13
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KBTBD13 |
|
Disorders
/ Diseases
for KBTBD13 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KBTBD13 for disorders About GeneDecksing
OMIM gene information: 613727
OMIM disorders: 609273
UniProtKB/Swiss-Prot: KBTBD_HUMAN, C9JR72
Defects in KBTBD13 are the cause of nemaline myopathy type 6 (NEM6) [MIM:609273]. A form of nemaline myopathycharacterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slowmovements with stiff muscles. Patients are unable to run or correct themselves from falling over
3  diseases for KBTBD13: About MalaCardsnemaline myopathy 6 nemaline myopathy myopathy
1 disease from the University of Copenhagen DISEASES database for KBTBD13:Nemaline myopathy Export disorders for KBTBD13 gene to outside databases
|
Publications
for KBTBD13 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KBTBD13 gene integrated from 9 sources:
(articles sorted by number of sources associating them with KBTBD13) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase. (PubMed id 22542517)1, 2, 3 Sambuughin N.... Maynard E. (2012)
- Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (PubMed id 21109227)1, 2, 3 Sambuughin N....Goldfarb L.G. (2010)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
- Sequence and structural analysis of BTB domain protei ns. (PubMed id 16207353)1 Stogios P.J....PrivAc G.G. (2005)
- A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. (PubMed id 12805120)1 Gommans I.M....Kremer H. (2003)
- The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
- Nemaline Myopathy (PubMed id 20301465)1 North K. and Ryan M.M. (1993)
|
External Searches for KBTBD13 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KBTBD13 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KBTBD13 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KBTBD13 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KBTBD13 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KBTBD13 gene:
Search GeneIP for patents involving KBTBD13
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KBTBD13 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KBTBD13 |
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