KLHL40 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	KLHL40
Entrez Gene ID	131377
Full Name	kelch like family member 40
Synonyms	KBTBD5,NEM8,SRYP,SYRP
General protein information	Preferred Names kelch like family member 40 Names kelch-like protein 40 kelch repeat and BTB (POZ) domain containing 5 kelch repeat and BTB domain-containing protein 5 nemaline myopathy type 8 sarcosynapsin
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 3 Map Location: 3p22.1
Summary	This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012].
Disorder MIM:	615340
Disorder Html:	Nemaline myopathy 8, autosomal recessive, 615348 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_152393.4	NP_689606.2	kelch-like protein 40
NM_152393.3	NP_689606.2	kelch-like protein 40

Pathways from BioSystems

Homologies

	KBTBD5	XP_002802877.1
Gallus gallus (chicken)	KBTBD5	XP_418495.2
Danio rerio (zebrafish)	klhl40a	NP_001122154.1
Xenopus tropicalis (tropical clawed frog)	klhl40	NP_001015817.1
Rattus norvegicus (Norway rat)	Klhl40	NP_001101665.1
Danio rerio (zebrafish)	klhl40b	XP_001334076.1
Homo sapiens (human)	KLHL40	NP_689606.2
Canis lupus familiaris (dog)	KLHL40	XP_542735.4
Bos taurus (cattle)	KBTBD5	NP_001015598.1
Mus musculus (house mouse)	Klhl40	NP_082478.1

Gene Ontology
Bibliography

Related articles in PubMed

Architecture of the human interactome defines protein communities and disease networks.
Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW
Nature545(7655)505-509(2017 05)

Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
Chen TH, Tian X, Kuo PL, Pan HP, Wong LC, Jong YJ
Prenatal diagnosis36(12)1135-1138(2016 Dec)

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
Garg A, O'Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson EN
The Journal of clinical investigation124(8)3529-39(2014 Aug)

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
American journal of human genetics93(1)6-18(2013 Jul)

Update on the Kelch-like (KLHL) gene family.
Dhanoa BS, Cogliati T, Satish AG, Bruford EA, Friedman JS
Human genomics713(2013 May)

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

Two compound heterozygous mutations; c.602G > A(p.W201*) and c.1516A > C(p.T506P), in the Kelch-like 40 (KLHL40) gene were discovered in a family with 3 fetuses affected by fetal akinesia deformation sequence.
Title: Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.

NEB and LMOD3 were reduced in skeletal muscle of KLHL40-deficient patients, providing a potential basis for the development of nemaline myopathy.
Title: KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.

KLHL40 mutations as a frequent cause of severe autosomal-recessive nemaline myopathy. It plays a key role in muscle development and function.
Title: Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

The following KLHL40 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the KLHL40 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)
OHu19768	NM_152393.4 Latest version!	Homo sapiens kelch like family member 40 (KLHL40), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$219.50-$307.30 $439.00
View Old Accession Versions >>
OHu19768	NM_152393.3	Homo sapiens kelch like family member 40 (KLHL40), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$219.50-$307.30 $439.00
Hide Old Accession Versions >>

ORF Online Only Promotion

Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone	30% OFF
2-4 Clone	40% OFF
5 or more Clone	50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** 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)

KLHL40 ( NM_152393.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_689606.2 Homo sapiens kelch like family member 40 (KLHL40), mRNA.

Price & Availability↑

CloneID	OHu19768
Clone ID Related Accession (Same CDS sequence)	NM_152393.4 , NM_152393.3
Accession Version	NM_152393.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1866bp) 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	2019-10-09
Organism	Homo sapiens(human)
Product	kelch-like protein 40
Comment	Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY177390.1, AK291294.1, AI274020.1, AW445105.1 and KC876887.1. This sequence is a reference standard in the RefSeqGene project. On May 17, 2019 this sequence version replaced NM_152393.3. ##Evidence-Data-START## Transcript exon combination :: AK291294.1, DRR138525.393269.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000287777.5/ ENSP00000287777.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCGCTGG GCTTGGAGCA GGCGGAGGAG CAGCGGTTGT ACCAGCAGAC GCTCCTGCAA 
GACGGGCTCA AAGACATGCT GGACCATGGC AAGTTCCTCG ACTGTGTGGT GCGGGCGGGC 
GAGCGCGAGT TCCCGTGCCA TCGCCTGGTG CTGGCCGCCT GCAGCCCCTA CTTCCGGGCG 
CGCTTTCTAG CCGAGCCGGA GCGCGCGGGC GAGCTGCACC TGGAGGAGGT GTCCCCGGAC 
GTGGTGGCCC AGGTGCTGCA CTACCTGTAC ACATCAGAGA TCGCGCTGGA TGAGGCGAGC 
GTGCAGGATT TGTTCGCCGC GGCACACCGC TTCCAGATCC CTTCCATCTT CACCATCTGC 
GTGTCCTTCC TGCAGAAGCG CCTGTGCCTC TCCAACTGCT TGGCCGTCTT CCGTCTCGGC 
CTCCTGCTCG ACTGCGCGCG TCTCGCCGTG GCTGCCCGCG ACTTCATCTG CGCTCACTTC 
ACGCTGGTGG CGCGCGACGC TGACTTCCTC GGACTCTCGG CCGACGAGCT CATCGCCATC 
ATCTCCAGCG ACGGCCTTAA CGTGGAGAAG GAGGAGGCAG TGTTCGAGGC GGTGATGCGG 
TGGGCGGGTA GCGGCGACGC CGAGGCGCAG GCTGAGCGCC AGCGCGCGCT GCCCACCGTC 
TTCGAGAGCG TGCGCTGCCG CTTGCTGCCG CGCGCCTTTC TGGAAAGCCG CGTGGAGCGC 
CACCCTCTCG TGCGTGCCCA GCCCGAGTTG CTGCGCAAGG TGCAGATGGT GAAGGATGCA 
CACGAGGGCC GCATCACCAC GCTGCGGAAG AAAAAGAAGG GGAAGGATGG AGCCGGGGCC 
AAGGAGGCTG ATAAGGGCAC AAGCAAAGCC AAAGCAGAGG AGGATGAGGA GGCCGAACGT 
ATCCTTCCTG GGATCCTCAA TGACACCCTG CGCTTCGGCA TGTTCCTGCA GGATCTCATC 
TTCATGATCA GTGAGGAGGG CGCTGTGGCC TACGATCCAG CAGCCAACGA GTGCTACTGT 
GCTTCCCTCT CCAACCAGGT CCCCAAGAAC CACGTCAGCC TGGTTACCAA GGAGAACCAG 
GTCTTCGTGG CTGGAGGCCT CTTCTACAAC GAAGACAACA AAGAGGACCC CATGAGCGCA 
TACTTCCTGC AGTTTGACCA TCTGGACTCA GAGTGGCTGG GGATGCCACC GCTGCCCTCG 
CCCCGCTGCC TCTTTGGCCT GGGAGAAGCT CTCAACTCCA TCTACGTGGT CGGTGGCAGA 
GAGATCAAGG ACGGCGAGCG CTGCCTGGAC TCGGTCATGT GCTACGACAG GCTGTCATTC 
AAATGGGGTG AATCGGACCC GCTGCCTTAC GTGGTGTATG GCCACACAGT GCTCTCCCAC 
ATGGACCTTG TCTACGTAAT TGGCGGCAAA GGCAGTGACA GGAAGTGCCT GAACAAGATG 
TGCGTCTATG ACCCCAAGAA GTTTGAGTGG AAGGAGCTGG CACCCATGCA GACCGCCCGC 
TCACTCTTTG GGGCCACTGT CCATGATGGC CGCATTATCG TGGCAGCTGG GGTCACCGAC 
ACAGGGCTGA CCAGTTCTGC CGAAGTGTAC AGCATCACAG ACAACAAGTG GGCACCCTTC 
GAGGCCTTCC CACAGGAGCG TAGCTCACTC AGCCTGGTCA GCCTGGTGGG TACCCTCTAT 
GCCATTGGTG GCTTTGCCAC ACTGGAGACG GAGTCTGGAG AGCTGGTTCC CACAGAGCTC 
AATGACATCT GGAGGTATAA CGAGGAGGAG AAGAAATGGG AGGGTGTCCT GCGGGAGATC 
GCCTATGCAG CAGGTGCCAC CTTCCTACCA GTGCGGCTCA ATGTGCTGTG CCTGACTAAG 
ATGTGA

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

RefSeq	NP_689606.2
CDS	83..1948
Translation	MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREFPCHRLVLAACSPYFRARFLAEPERAGELHLEEVSPDVVAQVLHYLYTSEIALDEASVQDLFAAAHRFQIPSIFTICVSFLQKRLCLSNCLAVFRLGLLLDCARLAVAARDFICAHFTLVARDADFLGLSADELIAIISSDGLNVEKEEAVFEAVMRWAGSGDAEAQAERQRALPTVFESVRCRLLPRAFLESRVERHPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKDGAGAKEADKGTSKAKAEEDEEAERILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPAANECYCASLSNQVPKNHVSLVTKENQVFVAGGLFYNEDNKEDPMSAYFLQFDHLDSEWLGMPPLPSPRCLFGLGEALNSIYVVGGREIKDGERCLDSVMCYDRLSFKWGESDPLPYVVYGHTVLSHMDLVYVIGGKGSDRKCLNKMCVYDPKKFEWKELAPMQTARSLFGATVHDGRIIVAAGVTDTGLTSSAEVYSITDNKWAPFEAFPQERSSLSLVSLVGTLYAIGGFATLETESGELVPTELNDIWRYNEEEKKWEGVLREIAYAAGATFLPVRLNVLCLTKM

Target ORF information:

RefSeq Version	NM_152393.4
Organism	Homo sapiens(human)
Definition	Homo sapiens kelch like family member 40 (KLHL40), mRNA.

Target ORF information:

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

NM_152393.4

ORF Insert Sequence:

ATGGCGCTGG GCTTGGAGCA GGCGGAGGAG CAGCGGTTGT ACCAGCAGAC GCTCCTGCAA 
GACGGGCTCA AAGACATGCT GGACCATGGC AAGTTCCTCG ACTGTGTGGT GCGGGCGGGC 
GAGCGCGAGT TCCCGTGCCA TCGCCTGGTG CTGGCCGCCT GCAGCCCCTA CTTCCGGGCG 
CGCTTTCTAG CCGAGCCGGA GCGCGCGGGC GAGCTGCACC TGGAGGAGGT GTCCCCGGAC 
GTGGTGGCCC AGGTGCTGCA CTACCTGTAC ACATCAGAGA TCGCGCTGGA TGAGGCGAGC 
GTGCAGGATT TGTTCGCCGC GGCACACCGC TTCCAGATCC CTTCCATCTT CACCATCTGC 
GTGTCCTTCC TGCAGAAGCG CCTGTGCCTC TCCAACTGCT TGGCCGTCTT CCGTCTCGGC 
CTCCTGCTCG ACTGCGCGCG TCTCGCCGTG GCTGCCCGCG ACTTCATCTG CGCTCACTTC 
ACGCTGGTGG CGCGCGACGC TGACTTCCTC GGACTCTCGG CCGACGAGCT CATCGCCATC 
ATCTCCAGCG ACGGCCTTAA CGTGGAGAAG GAGGAGGCAG TGTTCGAGGC GGTGATGCGG 
TGGGCGGGTA GCGGCGACGC CGAGGCGCAG GCTGAGCGCC AGCGCGCGCT GCCCACCGTC 
TTCGAGAGCG TGCGCTGCCG CTTGCTGCCG CGCGCCTTTC TGGAAAGCCG CGTGGAGCGC 
CACCCTCTCG TGCGTGCCCA GCCCGAGTTG CTGCGCAAGG TGCAGATGGT GAAGGATGCA 
CACGAGGGCC GCATCACCAC GCTGCGGAAG AAAAAGAAGG GGAAGGATGG AGCCGGGGCC 
AAGGAGGCTG ATAAGGGCAC AAGCAAAGCC AAAGCAGAGG AGGATGAGGA GGCCGAACGT 
ATCCTTCCTG GGATCCTCAA TGACACCCTG CGCTTCGGCA TGTTCCTGCA GGATCTCATC 
TTCATGATCA GTGAGGAGGG CGCTGTGGCC TACGATCCAG CAGCCAACGA GTGCTACTGT 
GCTTCCCTCT CCAACCAGGT CCCCAAGAAC CACGTCAGCC TGGTTACCAA GGAGAACCAG 
GTCTTCGTGG CTGGAGGCCT CTTCTACAAC GAAGACAACA AAGAGGACCC CATGAGCGCA 
TACTTCCTGC AGTTTGACCA TCTGGACTCA GAGTGGCTGG GGATGCCACC GCTGCCCTCG 
CCCCGCTGCC TCTTTGGCCT GGGAGAAGCT CTCAACTCCA TCTACGTGGT CGGTGGCAGA 
GAGATCAAGG ACGGCGAGCG CTGCCTGGAC TCGGTCATGT GCTACGACAG GCTGTCATTC 
AAATGGGGTG AATCGGACCC GCTGCCTTAC GTGGTGTATG GCCACACAGT GCTCTCCCAC 
ATGGACCTTG TCTACGTAAT TGGCGGCAAA GGCAGTGACA GGAAGTGCCT GAACAAGATG 
TGCGTCTATG ACCCCAAGAA GTTTGAGTGG AAGGAGCTGG CACCCATGCA GACCGCCCGC 
TCACTCTTTG GGGCCACTGT CCATGATGGC CGCATTATCG TGGCAGCTGG GGTCACCGAC 
ACAGGGCTGA CCAGTTCTGC CGAAGTGTAC AGCATCACAG ACAACAAGTG GGCACCCTTC 
GAGGCCTTCC CACAGGAGCG TAGCTCACTC AGCCTGGTCA GCCTGGTGGG TACCCTCTAT 
GCCATTGGTG GCTTTGCCAC ACTGGAGACG GAGTCTGGAG AGCTGGTTCC CACAGAGCTC 
AATGACATCT GGAGGTATAA CGAGGAGGAG AAGAAATGGG AGGGTGTCCT GCGGGAGATC 
GCCTATGCAG CAGGTGCCAC CTTCCTACCA GTGCGGCTCA ATGTGCTGTG CCTGACTAAG 
ATGTGA

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

KLHL40 ( NM_152393.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_689606.2 Homo sapiens kelch like family member 40 (KLHL40), mRNA.

Price & Availability↑

CloneID	OHu19768
Clone ID Related Accession (Same CDS sequence)	NM_152393.4 , NM_152393.3
Accession Version	NM_152393.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1866bp) 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	2019-02-22
Organism	Homo sapiens(human)
Product	kelch-like protein 40
Comment	Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY177390.1, AK291294.1, AI274020.1 and AW445105.1. This sequence is a reference standard in the RefSeqGene project. On Dec 14, 2012 this sequence version replaced NM_152393.2. ##Evidence-Data-START## Transcript exon combination :: AY176040.1, BC110491.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCGCTGG GCTTGGAGCA GGCGGAGGAG CAGCGGTTGT ACCAGCAGAC GCTCCTGCAA 
GACGGGCTCA AAGACATGCT GGACCATGGC AAGTTCCTCG ACTGTGTGGT GCGGGCGGGC 
GAGCGCGAGT TCCCGTGCCA TCGCCTGGTG CTGGCCGCCT GCAGCCCCTA CTTCCGGGCG 
CGCTTTCTAG CCGAGCCGGA GCGCGCGGGC GAGCTGCACC TGGAGGAGGT GTCCCCGGAC 
GTGGTGGCCC AGGTGCTGCA CTACCTGTAC ACATCAGAGA TCGCGCTGGA TGAGGCGAGC 
GTGCAGGATT TGTTCGCCGC GGCACACCGC TTCCAGATCC CTTCCATCTT CACCATCTGC 
GTGTCCTTCC TGCAGAAGCG CCTGTGCCTC TCCAACTGCT TGGCCGTCTT CCGTCTCGGC 
CTCCTGCTCG ACTGCGCGCG TCTCGCCGTG GCTGCCCGCG ACTTCATCTG CGCTCACTTC 
ACGCTGGTGG CGCGCGACGC TGACTTCCTC GGACTCTCGG CCGACGAGCT CATCGCCATC 
ATCTCCAGCG ACGGCCTTAA CGTGGAGAAG GAGGAGGCAG TGTTCGAGGC GGTGATGCGG 
TGGGCGGGTA GCGGCGACGC CGAGGCGCAG GCTGAGCGCC AGCGCGCGCT GCCCACCGTC 
TTCGAGAGCG TGCGCTGCCG CTTGCTGCCG CGCGCCTTTC TGGAAAGCCG CGTGGAGCGC 
CACCCTCTCG TGCGTGCCCA GCCCGAGTTG CTGCGCAAGG TGCAGATGGT GAAGGATGCA 
CACGAGGGCC GCATCACCAC GCTGCGGAAG AAAAAGAAGG GGAAGGATGG AGCCGGGGCC 
AAGGAGGCTG ATAAGGGCAC AAGCAAAGCC AAAGCAGAGG AGGATGAGGA GGCCGAACGT 
ATCCTTCCTG GGATCCTCAA TGACACCCTG CGCTTCGGCA TGTTCCTGCA GGATCTCATC 
TTCATGATCA GTGAGGAGGG CGCTGTGGCC TACGATCCAG CAGCCAACGA GTGCTACTGT 
GCTTCCCTCT CCAACCAGGT CCCCAAGAAC CACGTCAGCC TGGTTACCAA GGAGAACCAG 
GTCTTCGTGG CTGGAGGCCT CTTCTACAAC GAAGACAACA AAGAGGACCC CATGAGCGCA 
TACTTCCTGC AGTTTGACCA TCTGGACTCA GAGTGGCTGG GGATGCCACC GCTGCCCTCG 
CCCCGCTGCC TCTTTGGCCT GGGAGAAGCT CTCAACTCCA TCTACGTGGT CGGTGGCAGA 
GAGATCAAGG ACGGCGAGCG CTGCCTGGAC TCGGTCATGT GCTACGACAG GCTGTCATTC 
AAATGGGGTG AATCGGACCC GCTGCCTTAC GTGGTGTATG GCCACACAGT GCTCTCCCAC 
ATGGACCTTG TCTACGTAAT TGGCGGCAAA GGCAGTGACA GGAAGTGCCT GAACAAGATG 
TGCGTCTATG ACCCCAAGAA GTTTGAGTGG AAGGAGCTGG CACCCATGCA GACCGCCCGC 
TCACTCTTTG GGGCCACTGT CCATGATGGC CGCATTATCG TGGCAGCTGG GGTCACCGAC 
ACAGGGCTGA CCAGTTCTGC CGAAGTGTAC AGCATCACAG ACAACAAGTG GGCACCCTTC 
GAGGCCTTCC CACAGGAGCG TAGCTCACTC AGCCTGGTCA GCCTGGTGGG TACCCTCTAT 
GCCATTGGTG GCTTTGCCAC ACTGGAGACG GAGTCTGGAG AGCTGGTTCC CACAGAGCTC 
AATGACATCT GGAGGTATAA CGAGGAGGAG AAGAAATGGG AGGGTGTCCT GCGGGAGATC 
GCCTATGCAG CAGGTGCCAC CTTCCTACCA GTGCGGCTCA ATGTGCTGTG CCTGACTAAG 
ATGTGA

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

RefSeq	NP_689606.2
CDS	101..1966
Translation	MALGLEQAEEQRLYQQTLLQDGLKDMLDHGKFLDCVVRAGEREFPCHRLVLAACSPYFRARFLAEPERAGELHLEEVSPDVVAQVLHYLYTSEIALDEASVQDLFAAAHRFQIPSIFTICVSFLQKRLCLSNCLAVFRLGLLLDCARLAVAARDFICAHFTLVARDADFLGLSADELIAIISSDGLNVEKEEAVFEAVMRWAGSGDAEAQAERQRALPTVFESVRCRLLPRAFLESRVERHPLVRAQPELLRKVQMVKDAHEGRITTLRKKKKGKDGAGAKEADKGTSKAKAEEDEEAERILPGILNDTLRFGMFLQDLIFMISEEGAVAYDPAANECYCASLSNQVPKNHVSLVTKENQVFVAGGLFYNEDNKEDPMSAYFLQFDHLDSEWLGMPPLPSPRCLFGLGEALNSIYVVGGREIKDGERCLDSVMCYDRLSFKWGESDPLPYVVYGHTVLSHMDLVYVIGGKGSDRKCLNKMCVYDPKKFEWKELAPMQTARSLFGATVHDGRIIVAAGVTDTGLTSSAEVYSITDNKWAPFEAFPQERSSLSLVSLVGTLYAIGGFATLETESGELVPTELNDIWRYNEEEKKWEGVLREIAYAAGATFLPVRLNVLCLTKM

Target ORF information:

RefSeq Version	NM_152393.3
Organism	Homo sapiens(human)
Definition	Homo sapiens kelch like family member 40 (KLHL40), mRNA.

Target ORF information:

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

NM_152393.3

ORF Insert Sequence:

ATGGCGCTGG GCTTGGAGCA GGCGGAGGAG CAGCGGTTGT ACCAGCAGAC GCTCCTGCAA 
GACGGGCTCA AAGACATGCT GGACCATGGC AAGTTCCTCG ACTGTGTGGT GCGGGCGGGC 
GAGCGCGAGT TCCCGTGCCA TCGCCTGGTG CTGGCCGCCT GCAGCCCCTA CTTCCGGGCG 
CGCTTTCTAG CCGAGCCGGA GCGCGCGGGC GAGCTGCACC TGGAGGAGGT GTCCCCGGAC 
GTGGTGGCCC AGGTGCTGCA CTACCTGTAC ACATCAGAGA TCGCGCTGGA TGAGGCGAGC 
GTGCAGGATT TGTTCGCCGC GGCACACCGC TTCCAGATCC CTTCCATCTT CACCATCTGC 
GTGTCCTTCC TGCAGAAGCG CCTGTGCCTC TCCAACTGCT TGGCCGTCTT CCGTCTCGGC 
CTCCTGCTCG ACTGCGCGCG TCTCGCCGTG GCTGCCCGCG ACTTCATCTG CGCTCACTTC 
ACGCTGGTGG CGCGCGACGC TGACTTCCTC GGACTCTCGG CCGACGAGCT CATCGCCATC 
ATCTCCAGCG ACGGCCTTAA CGTGGAGAAG GAGGAGGCAG TGTTCGAGGC GGTGATGCGG 
TGGGCGGGTA GCGGCGACGC CGAGGCGCAG GCTGAGCGCC AGCGCGCGCT GCCCACCGTC 
TTCGAGAGCG TGCGCTGCCG CTTGCTGCCG CGCGCCTTTC TGGAAAGCCG CGTGGAGCGC 
CACCCTCTCG TGCGTGCCCA GCCCGAGTTG CTGCGCAAGG TGCAGATGGT GAAGGATGCA 
CACGAGGGCC GCATCACCAC GCTGCGGAAG AAAAAGAAGG GGAAGGATGG AGCCGGGGCC 
AAGGAGGCTG ATAAGGGCAC AAGCAAAGCC AAAGCAGAGG AGGATGAGGA GGCCGAACGT 
ATCCTTCCTG GGATCCTCAA TGACACCCTG CGCTTCGGCA TGTTCCTGCA GGATCTCATC 
TTCATGATCA GTGAGGAGGG CGCTGTGGCC TACGATCCAG CAGCCAACGA GTGCTACTGT 
GCTTCCCTCT CCAACCAGGT CCCCAAGAAC CACGTCAGCC TGGTTACCAA GGAGAACCAG 
GTCTTCGTGG CTGGAGGCCT CTTCTACAAC GAAGACAACA AAGAGGACCC CATGAGCGCA 
TACTTCCTGC AGTTTGACCA TCTGGACTCA GAGTGGCTGG GGATGCCACC GCTGCCCTCG 
CCCCGCTGCC TCTTTGGCCT GGGAGAAGCT CTCAACTCCA TCTACGTGGT CGGTGGCAGA 
GAGATCAAGG ACGGCGAGCG CTGCCTGGAC TCGGTCATGT GCTACGACAG GCTGTCATTC 
AAATGGGGTG AATCGGACCC GCTGCCTTAC GTGGTGTATG GCCACACAGT GCTCTCCCAC 
ATGGACCTTG TCTACGTAAT TGGCGGCAAA GGCAGTGACA GGAAGTGCCT GAACAAGATG 
TGCGTCTATG ACCCCAAGAA GTTTGAGTGG AAGGAGCTGG CACCCATGCA GACCGCCCGC 
TCACTCTTTG GGGCCACTGT CCATGATGGC CGCATTATCG TGGCAGCTGG GGTCACCGAC 
ACAGGGCTGA CCAGTTCTGC CGAAGTGTAC AGCATCACAG ACAACAAGTG GGCACCCTTC 
GAGGCCTTCC CACAGGAGCG TAGCTCACTC AGCCTGGTCA GCCTGGTGGG TACCCTCTAT 
GCCATTGGTG GCTTTGCCAC ACTGGAGACG GAGTCTGGAG AGCTGGTTCC CACAGAGCTC 
AATGACATCT GGAGGTATAA CGAGGAGGAG AAGAAATGGG AGGGTGTCCT GCGGGAGATC 
GCCTATGCAG CAGGTGCCAC CTTCCTACCA GTGCGGCTCA ATGTGCTGTG CCTGACTAAG 
ATGTGA

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

PubMed

Architecture of the human interactome defines protein communities and disease networks.
Nature545(7655)505-509(2017 05)
Huttlin EL,Bruckner RJ,Paulo JA,Cannon JR,Ting L,Baltier K,Colby G,Gebreab F,Gygi MP,Parzen H,Szpyt J,Tam S,Zarraga G,Pontano-Vaites L,Swarup S,White AE,Schweppe DK,Rad R,Erickson BK,Obar RA,Guruharsha KG,Li K,Artavanis-Tsakonas S,Gygi SP,Harper JW

Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
Prenatal diagnosis36(12)1135-1138(2016 Dec)
Chen TH,Tian X,Kuo PL,Pan HP,Wong LC,Jong YJ

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.
The Journal of clinical investigation124(8)3529-39(2014 Aug)
Garg A,O'Rourke J,Long C,Doering J,Ravenscroft G,Bezprozvannaya S,Nelson BR,Beetz N,Li L,Chen S,Laing NG,Grange RW,Bassel-Duby R,Olson EN

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
American journal of human genetics93(1)6-18(2013 Jul)
Ravenscroft G,Miyatake S,Lehtokari VL,Todd EJ,Vornanen P,Yau KS,Hayashi YK,Miyake N,Tsurusaki Y,Doi H,Saitsu H,Osaka H,Yamashita S,Ohya T,Sakamoto Y,Koshimizu E,Imamura S,Yamashita M,Ogata K,Shiina M,Bryson-Richardson RJ,Vaz R,Ceyhan O,Brownstein CA,Swanson LC,Monnot S,Romero NB,Amthor H,Kresoje N,Sivadorai P,Kiraly-Borri C,Haliloglu G,Talim B,Orhan D,Kale G,Charles AK,Fabian VA,Davis MR,Lammens M,Sewry CA,Manzur A,Muntoni F,Clarke NF,North KN,Bertini E,Nevo Y,Willichowski E,Silberg IE,Topaloglu H,Beggs AH,Allcock RJ,Nishino I,Wallgren-Pettersson C,Matsumoto N,Laing NG

Update on the Kelch-like (KLHL) gene family.
Human genomics713(2013 May)
Dhanoa BS,Cogliati T,Satish AG,Bruford EA,Friedman JS

- Most Popular Services
  - 人工遺伝子合成& DNA合成-納期保証
- Services & Products

見積依頼

Eメール

japanmarket@genscript.com

電話

03-6811-6572

FAX

03-6811-6573
050-3174-7589(受注専用)

オンラインフォーム

オンライン注文

KLHL40 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Most Popular Services

Services & Products

見積依頼

Eメール

電話

FAX

オンラインフォーム

サポート

会社情報

サポート

会社情報