KBTBD13 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	KBTBD13
Entrez Gene ID	390594
Full Name	kelch repeat and BTB domain containing 13
Synonyms	HCG1645727,NEM6
General protein information	Preferred Names kelch repeat and BTB domain containing 13 Names kelch repeat and BTB domain-containing protein 13 kelch repeat and BTB (POZ) domain containing 13 nemaline myopathy type 6
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 15 Map Location: 15q22.31
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].
Disorder MIM:	613727
Disorder Html:	Nemaline myopathy 6, autosomal dominant, 609273 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001101362.2	NP_001094832.1	kelch repeat and BTB domain-containing protein 13

Pathways from BioSystems

Homologies

Mus musculus (house mouse)	Kbtbd13	NP_083250.1
Gallus gallus (chicken)	KBTBD13	XP_004943944.1
Xenopus tropicalis (tropical clawed frog)	LOC100489313	XP_004912743.1
Pan troglodytes (chimpanzee)	KBTBD13	XP_523100.3
	KBTBD13	XP_001108564.2
Canis lupus familiaris (dog)	KBTBD13	XP_005642544.1
Bos taurus (cattle)	KBTBD13	XP_005211464.1
Homo sapiens (human)	KBTBD13	NP_001094832.1

Gene Ontology
Bibliography

Related articles in PubMed

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
Sambuughin N, Swietnicki W, Techtmann S, Matrosova V, Wallace T, Goldfarb L, Maynard E
Biochemical and biophysical research communications421(4)743-9(2012 May)

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Oliv? M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG
American journal of human genetics87(6)842-7(2010 Dec)

Sequence and structural analysis of BTB domain proteins.
Stogios PJ, Downs GS, Jauhal JJ, Nandra SK, Priv? GG
Genome biology6(10)R82(2005)

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H
Brain : a journal of neurology126(Pt 7)1545-51(2003 Jul)

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

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.

The following KBTBD13 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the KBTBD13 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)	Select
OHu22908	NM_001101362.2 Latest version!	Homo sapiens kelch repeat and BTB domain containing 13 (KBTBD13), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$223.30 $319.00

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

KBTBD13 ( NM_001101362.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001094832.1 Homo sapiens kelch repeat and BTB domain containing 13 (KBTBD13), mRNA.

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CloneID	OHu22908
Clone ID Related Accession (Same CDS sequence)	NM_001101362.2
Accession Version	NM_001101362.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1377bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-27
Organism	Homo sapiens(human)
Product	kelch repeat and BTB domain-containing protein 13
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC013553.14 and DB331058.1. This sequence is a reference standard in the RefSeqGene project. On Jun 5, 2010 this sequence version replaced NM_001101362.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. There are no full-length transcripts representing this locus in human; the extent of this transcript is supported by partial human transcript alignments and by aligning homologous transcripts from mouse GeneID:74492. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCACGGG GTCCACAGAC CCTGGTGCAG GTGTGGGTGG GCGGCCAGCT CTTCCAAGCC 
GACCGCGCCC TGCTGGTGGA GCACTGTGGC TTCTTCCGAG GCCTCTTCCG CTCCGGCATG 
CGGGAGACCC GCGCAGCAGA GGTGCGCCTG GGCGTTCTGA GCGCGGGAGG TTTCCGCGCC 
ACGCTGCAGG TGCTGCGCGG CGACCGGCCG GCGCTGGCGG CGGAGGACGA GCTGCTGCAG 
GCCGTGGAGT GCGCCGCCTT CCTCCAGGCG CCGGCGCTGG CTCGCTTTCT GGAGCACAAC 
CTCACGTCGG ACAACTGCGC ATTGCTGTGC GACGCGGCCG CCGCCTTCGG CCTGCGCGAC 
GTGTTCCACA GTGCCGCGCT CTTCATCTGC GACGGCGAGC GCGAGCTGGC GGCCGAACTG 
GCGCTGCCTG AGGCCCGCGC CTACGTGGCG GCCCTGCGGC CCAGCAGCTA CGCGGCCGTG 
AGCACGCACA CGCCCGCGCC CGGCTTCCTG GAGGACGCCT CGCGCACGCT GTGTTACCTG 
GACGAGGAAG AGGACGCGTG GCGCACGCTG GCTGCGCTGC CCCTGGAGGC CAGCACGTTG 
CTGGCCGGGG TGGCCACGCT GGGCAACAAG CTTTACATCG TGGGGGGCGT GCGCGGCGCC 
AGCAAGGAGG TGGTAGAGCT GGGCTTCTGC TACGACCCCG ACGGCGGCAC GTGGCACGAG 
TTCCCCAGCC CGCACCAGCC GCGCTATGAC ACAGCGCTGG CCGGCTTCGA CGGCCGCCTC 
TACGCCATCG GCGGCGAATT CCAGAGGACG CCCATCAGCT CCGTGGAGCG CTACGACCCA 
GCCGCGGGCT GCTGGAGTTT CGTGGCCGAC CTGCCGCAGC CGGCCGCCGG CGTGCCCTGC 
GCCCAGGCTT GTGGCCGTCT CTTCGTGTGC CTGTGGCGGC CGGCCGACAC CACCGCCGTG 
GTGGAGTACG CAGTGCGGAC CGACGCGTGG CTGCCAGTGG CCGAGCTGCG GCGTCCGCAG 
AGCTATGGCC ACTGCATGGT GGCCCACCGC GACAGCCTCT ATGTGGTGCG CAACGGACCT 
TCCGACGACT TCCTGCACTG CGCCATCGAC TGTCTCAACC TGGCCACGGG CCAGTGGACG 
GCGCTGCCCG GCCAGTTCGT CAACAGCAAG GGAGCGCTCT TCACGGCCGT GGTGCGCGGT 
GACACCGTCT ATACGGTCAA CCGCATGTTC ACGCTGCTCT ACGCCATCGA GGGCGGCACC 
TGGCGGCTGC TCAGGGAGAA AGCCGGCTTC CCGCGGCCCG GCTCCTTGCA GACCTTTCTC 
CTAAGGCTGC CTCCTGGCGC TCCTGGGCCT GTGACTTCGA CAACGGCAGA ACTGTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_001094832.1
CDS	1..1377
Translation	MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHEFPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPCAQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL

Target ORF information:

RefSeq Version	NM_001101362.2
Organism	Homo sapiens(human)
Definition	Homo sapiens kelch repeat and BTB domain containing 13 (KBTBD13), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_001101362.2

ORF Insert Sequence:

ATGGCACGGG GTCCACAGAC CCTGGTGCAG GTGTGGGTGG GCGGCCAGCT CTTCCAAGCC 
GACCGCGCCC TGCTGGTGGA GCACTGTGGC TTCTTCCGAG GCCTCTTCCG CTCCGGCATG 
CGGGAGACCC GCGCAGCAGA GGTGCGCCTG GGCGTTCTGA GCGCGGGAGG TTTCCGCGCC 
ACGCTGCAGG TGCTGCGCGG CGACCGGCCG GCGCTGGCGG CGGAGGACGA GCTGCTGCAG 
GCCGTGGAGT GCGCCGCCTT CCTCCAGGCG CCGGCGCTGG CTCGCTTTCT GGAGCACAAC 
CTCACGTCGG ACAACTGCGC ATTGCTGTGC GACGCGGCCG CCGCCTTCGG CCTGCGCGAC 
GTGTTCCACA GTGCCGCGCT CTTCATCTGC GACGGCGAGC GCGAGCTGGC GGCCGAACTG 
GCGCTGCCTG AGGCCCGCGC CTACGTGGCG GCCCTGCGGC CCAGCAGCTA CGCGGCCGTG 
AGCACGCACA CGCCCGCGCC CGGCTTCCTG GAGGACGCCT CGCGCACGCT GTGTTACCTG 
GACGAGGAAG AGGACGCGTG GCGCACGCTG GCTGCGCTGC CCCTGGAGGC CAGCACGTTG 
CTGGCCGGGG TGGCCACGCT GGGCAACAAG CTTTACATCG TGGGGGGCGT GCGCGGCGCC 
AGCAAGGAGG TGGTAGAGCT GGGCTTCTGC TACGACCCCG ACGGCGGCAC GTGGCACGAG 
TTCCCCAGCC CGCACCAGCC GCGCTATGAC ACAGCGCTGG CCGGCTTCGA CGGCCGCCTC 
TACGCCATCG GCGGCGAATT CCAGAGGACG CCCATCAGCT CCGTGGAGCG CTACGACCCA 
GCCGCGGGCT GCTGGAGTTT CGTGGCCGAC CTGCCGCAGC CGGCCGCCGG CGTGCCCTGC 
GCCCAGGCTT GTGGCCGTCT CTTCGTGTGC CTGTGGCGGC CGGCCGACAC CACCGCCGTG 
GTGGAGTACG CAGTGCGGAC CGACGCGTGG CTGCCAGTGG CCGAGCTGCG GCGTCCGCAG 
AGCTATGGCC ACTGCATGGT GGCCCACCGC GACAGCCTCT ATGTGGTGCG CAACGGACCT 
TCCGACGACT TCCTGCACTG CGCCATCGAC TGTCTCAACC TGGCCACGGG CCAGTGGACG 
GCGCTGCCCG GCCAGTTCGT CAACAGCAAG GGAGCGCTCT TCACGGCCGT GGTGCGCGGT 
GACACCGTCT ATACGGTCAA CCGCATGTTC ACGCTGCTCT ACGCCATCGA GGGCGGCACC 
TGGCGGCTGC TCAGGGAGAA AGCCGGCTTC CCGCGGCCCG GCTCCTTGCA GACCTTTCTC 
CTAAGGCTGC CTCCTGGCGC TCCTGGGCCT GTGACTTCGA CAACGGCAGA ACTGTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.
Biochemical and biophysical research communications421(4)743-9(2012 May)
Sambuughin N,Swietnicki W,Techtmann S,Matrosova V,Wallace T,Goldfarb L,Maynard E

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
American journal of human genetics87(6)842-7(2010 Dec)
Sambuughin N,Yau KS,Oliv? M,Duff RM,Bayarsaikhan M,Lu S,Gonzalez-Mera L,Sivadorai P,Nowak KJ,Ravenscroft G,Mastaglia FL,North KN,Ilkovski B,Kremer H,Lammens M,van Engelen BG,Fabian V,Lamont P,Davis MR,Laing NG,Goldfarb LG

Sequence and structural analysis of BTB domain proteins.
Genome biology6(10)R82(2005)
Stogios PJ,Downs GS,Jauhal JJ,Nandra SK,Priv? GG

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
Brain : a journal of neurology126(Pt 7)1545-51(2003 Jul)
Gommans IM,Davis M,Saar K,Lammens M,Mastaglia F,Lamont P,van Duijnhoven G,ter Laak HJ,Reis A,Vogels OJ,Laing N,van Engelen BG,Kremer H

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KBTBD13 cDNA ORF clone, Homo sapiens(human)

Gene

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gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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