MKKS cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	MKKS
Entrez Gene ID	8195
Full Name	McKusick-Kaufman syndrome
Synonyms	BBS6,HMCS,KMS,MKS
General protein information	Preferred Names McKusick-Kaufman syndrome Names McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin Bardet-Biedl syndrome 6 protein
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 20 Map Location: 20p12.2
Summary	This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013].
Disorder MIM:	604896
Disorder Html:	McKusick-Kaufman syndrome, 236700 (3); Bardet-Biedl syndrome 6, 605231 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_170784.2	NP_740754.1	McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
NM_018848.3	NP_061336.1	McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Pathways from BioSystems

Homologies

Pan troglodytes (chimpanzee)	MKKS	XP_001169410.1
Canis lupus familiaris (dog)	MKKS	XP_542894.1
Rattus norvegicus (Norway rat)	Mkks	NP_001008354.1
Homo sapiens (human)	MKKS	NP_740754.1
Mus musculus (house mouse)	Mkks	NP_067502.2
Danio rerio (zebrafish)	mkks	NP_956459.1
Xenopus tropicalis (tropical clawed frog)	mkks	XP_002931783.1
	MKKS	XP_001116196.1
Bos taurus (cattle)	MKKS	NP_001193100.1
Gallus gallus (chicken)	MKKS	NP_001186339.1

Gene Ontology
Bibliography

Related articles in PubMed

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.
Ullah A, Khalid M, Umair M, Khan SA, Bilal M, Khan S, Ahmad W
Congenital anomalies(2017 Dec)

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W
Molecular vision23482-494(2017)

Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites.
Akimoto C, Sakashita E, Kasashima K, Kuroiwa K, Tominaga K, Hamamoto T, Endo H
Biochimica et biophysica acta1830(3)2728-38(2013 Mar)

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

We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only retinitis pigmentosa and polydactyly.
Title: A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.

we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9, BBS10 and BBS2) compared to worldwide (BBS1 and 10) reports.
Title: Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

Novel mutation (c.1272+1G>A) in BBS6 found in Tunisian families with Bardet-Biedl syndrome.
Title: Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

Findings indicate that Bbs proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA levels.
Title: Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.

Three uORFs (uMKKS0, uMKKS1 and uMKKS2) are reported, and they can repress the translation of the downstream MKKS ORF. uMKKS1 and uMKKS2 are highly conserved in mammals and they encode two different mitochondrial membrane proteins respectively.
Title: Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites.

The following MKKS gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MKKS 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
OHu21266	NM_018848.3 Latest version!	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$189.50-$265.30 $379.00
OHu21266	NM_170784.2 Latest version!	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$189.50-$265.30 $379.00

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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)

MKKS ( NM_170784.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_740754.1 Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu21266
Clone ID Related Accession (Same CDS sequence)	NM_170784.2 , NM_018848.3
Accession Version	NM_170784.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1713bp) 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	McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA209180.1, AF221992.1, AL034430.4 and AK296439.1. This sequence is a reference standard in the RefSeqGene project. On Jun 30, 2012 this sequence version replaced NM_170784.1. Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.242541.1, SRR1803615.162172.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2150385, SAMEA2151358 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein regulatory uORF :: PMID: 23671934 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGTCTCGTT TGGAAGCTAA GAAGCCATCA TTGTGTAAGA GTGAACCACT GACAACTGAG 
AGAGTCAGGA CCACACTTTC TGTCTTGAAA AGAATTGTAA CATCATGCTA TGGCCCCTCA 
GGTAGGCTGA AGCAGCTGCA CAATGGCTTT GGAGGTTACG TGTGTACAAC CTCACAGTCC 
TCAGCTCTGC TCAGTCACCT TTTGGTCACA CATCCCATTT TAAAGATCCT GACAGCCTCC 
ATACAGAATC ATGTGTCAAG CTTCAGTGAT TGTGGCTTAT TCACAGCTAT TCTTTGCTGC 
AACCTGATTG AAAATGTTCA GAGATTAGGC TTGACACCCA CCACTGTCAT TAGATTAAAT 
AAACATCTTT TGAGTCTTTG CATCAGTTAT CTCAAGTCTG AGACCTGTGG TTGTCGAATC 
CCAGTGGACT TTAGTAGTAC TCAGATCCTC CTTTGTTTGG TGCGTAGTAT ATTAACAAGT 
AAACCTGCCT GTATGCTCAC CAGAAAGGAA ACAGAGCATG TCAGTGCTTT GATCCTGAGA 
GCCTTTTTGC TTACAATTCC AGAAAATGCT GAAGGCCACA TCATTTTAGG AAAGAGTTTA 
ATTGTACCTT TAAAAGGTCA AAGAGTTATA GATTCCACTG TATTACCTGG GATACTCATT 
GAAATGTCAG AAGTTCAATT AATGAGGCTA TTACCTATCA AAAAATCAAC TGCCCTCAAG 
GTGGCACTCT TTTGTACAAC TTTATCCGGA GACACTTCTG ACACTGGAGA AGGAACTGTG 
GTGGTCAGTT ATGGGGTTTC TCTTGAAAAT GCAGTCTTGG ACCAGCTGCT TAACCTAGGA 
AGGCAGCTAA TCAGTGACCA CGTAGATCTT GTCCTGTGCC AAAAAGTTAT ACATCCATCT 
TTGAAGCAGT TTCTCAATAT GCATCGTATT ATTGCCATAG ACAGAATTGG AGTGACTCTG 
ATGGAACCCC TGACTAAAAT GACAGGAACA CAGCCTATTG GATCCCTAGG CTCAATATGT 
CCTAATAGTT ATGGAAGTGT GAAAGATGTG TGCACTGCAA AATTTGGCTC CAAACATTTT 
TTTCATCTTA TTCCTAATGA AGCAACAATC TGCAGCTTGC TTCTCTGCAA CAGAAATGAC 
ACTGCCTGGG ATGAGCTGAA GCTCACGTGT CAGACGGCAC TGCATGTCCT GCAGTTAACA 
CTCAAGGAAC CATGGGCTTT GTTGGGAGGT GGCTGTACTG AAACTCATTT GGCTGCATAT 
ATCAGACACA AGACTCACAA CGACCCAGAA AGCATTCTCA AAGATGATGA ATGTACTCAA 
ACAGAACTTC AATTAATTGC TGAAGCATTT TGCAGTGCCC TAGAATCTGT TGTTGGCTCT 
TTAGAACATG ATGGAGGTGA AATTCTCACT GACATGAAGT ATGGACACCT TTGGTCAGTT 
CAGGCAGATT CTCCCTGTGT TGCTAACTGG CCAGATTTGC TTTCACAGTG TGGCTGTGGA 
TTATACAATA GCCAGGAAGA ACTCAACTGG TCTTTCTTAA GAAGCACACG TCGTCCATTT 
GTGCCACAAA GCTGCCTTCC ACATGAAGCT GTGGGCTCAG CCAGCAACCT GACCTTGGAC 
TGTTTGACTG CAAAGCTTAG TGGCCTACAG GTGGCTGTAG AGACAGCCAA TTTGATTTTG 
GATCTTTCAT ATGTTATTGA AGATAAAAAC TAA

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

RefSeq	NP_740754.1
CDS	781..2493
Translation	MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN

Target ORF information:

RefSeq Version	NM_170784.2
Organism	Homo sapiens(human)
Definition	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 2, mRNA.

Target ORF information:

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

NM_170784.2

ORF Insert Sequence:

ATGTCTCGTT TGGAAGCTAA GAAGCCATCA TTGTGTAAGA GTGAACCACT GACAACTGAG 
AGAGTCAGGA CCACACTTTC TGTCTTGAAA AGAATTGTAA CATCATGCTA TGGCCCCTCA 
GGTAGGCTGA AGCAGCTGCA CAATGGCTTT GGAGGTTACG TGTGTACAAC CTCACAGTCC 
TCAGCTCTGC TCAGTCACCT TTTGGTCACA CATCCCATTT TAAAGATCCT GACAGCCTCC 
ATACAGAATC ATGTGTCAAG CTTCAGTGAT TGTGGCTTAT TCACAGCTAT TCTTTGCTGC 
AACCTGATTG AAAATGTTCA GAGATTAGGC TTGACACCCA CCACTGTCAT TAGATTAAAT 
AAACATCTTT TGAGTCTTTG CATCAGTTAT CTCAAGTCTG AGACCTGTGG TTGTCGAATC 
CCAGTGGACT TTAGTAGTAC TCAGATCCTC CTTTGTTTGG TGCGTAGTAT ATTAACAAGT 
AAACCTGCCT GTATGCTCAC CAGAAAGGAA ACAGAGCATG TCAGTGCTTT GATCCTGAGA 
GCCTTTTTGC TTACAATTCC AGAAAATGCT GAAGGCCACA TCATTTTAGG AAAGAGTTTA 
ATTGTACCTT TAAAAGGTCA AAGAGTTATA GATTCCACTG TATTACCTGG GATACTCATT 
GAAATGTCAG AAGTTCAATT AATGAGGCTA TTACCTATCA AAAAATCAAC TGCCCTCAAG 
GTGGCACTCT TTTGTACAAC TTTATCCGGA GACACTTCTG ACACTGGAGA AGGAACTGTG 
GTGGTCAGTT ATGGGGTTTC TCTTGAAAAT GCAGTCTTGG ACCAGCTGCT TAACCTAGGA 
AGGCAGCTAA TCAGTGACCA CGTAGATCTT GTCCTGTGCC AAAAAGTTAT ACATCCATCT 
TTGAAGCAGT TTCTCAATAT GCATCGTATT ATTGCCATAG ACAGAATTGG AGTGACTCTG 
ATGGAACCCC TGACTAAAAT GACAGGAACA CAGCCTATTG GATCCCTAGG CTCAATATGT 
CCTAATAGTT ATGGAAGTGT GAAAGATGTG TGCACTGCAA AATTTGGCTC CAAACATTTT 
TTTCATCTTA TTCCTAATGA AGCAACAATC TGCAGCTTGC TTCTCTGCAA CAGAAATGAC 
ACTGCCTGGG ATGAGCTGAA GCTCACGTGT CAGACGGCAC TGCATGTCCT GCAGTTAACA 
CTCAAGGAAC CATGGGCTTT GTTGGGAGGT GGCTGTACTG AAACTCATTT GGCTGCATAT 
ATCAGACACA AGACTCACAA CGACCCAGAA AGCATTCTCA AAGATGATGA ATGTACTCAA 
ACAGAACTTC AATTAATTGC TGAAGCATTT TGCAGTGCCC TAGAATCTGT TGTTGGCTCT 
TTAGAACATG ATGGAGGTGA AATTCTCACT GACATGAAGT ATGGACACCT TTGGTCAGTT 
CAGGCAGATT CTCCCTGTGT TGCTAACTGG CCAGATTTGC TTTCACAGTG TGGCTGTGGA 
TTATACAATA GCCAGGAAGA ACTCAACTGG TCTTTCTTAA GAAGCACACG TCGTCCATTT 
GTGCCACAAA GCTGCCTTCC ACATGAAGCT GTGGGCTCAG CCAGCAACCT GACCTTGGAC 
TGTTTGACTG CAAAGCTTAG TGGCCTACAG GTGGCTGTAG AGACAGCCAA TTTGATTTTG 
GATCTTTCAT ATGTTATTGA AGATAAAAAC TAA

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

MKKS ( NM_018848.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_061336.1 Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu21266
Clone ID Related Accession (Same CDS sequence)	NM_170784.2 , NM_018848.3
Accession Version	NM_018848.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1713bp) 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	McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL034430.4, AF221993.1 and AK296439.1. On Jun 30, 2012 this sequence version replaced NM_018848.2. Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF221993.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## regulatory uORF :: PMID: 23671934 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGTCTCGTT TGGAAGCTAA GAAGCCATCA TTGTGTAAGA GTGAACCACT GACAACTGAG 
AGAGTCAGGA CCACACTTTC TGTCTTGAAA AGAATTGTAA CATCATGCTA TGGCCCCTCA 
GGTAGGCTGA AGCAGCTGCA CAATGGCTTT GGAGGTTACG TGTGTACAAC CTCACAGTCC 
TCAGCTCTGC TCAGTCACCT TTTGGTCACA CATCCCATTT TAAAGATCCT GACAGCCTCC 
ATACAGAATC ATGTGTCAAG CTTCAGTGAT TGTGGCTTAT TCACAGCTAT TCTTTGCTGC 
AACCTGATTG AAAATGTTCA GAGATTAGGC TTGACACCCA CCACTGTCAT TAGATTAAAT 
AAACATCTTT TGAGTCTTTG CATCAGTTAT CTCAAGTCTG AGACCTGTGG TTGTCGAATC 
CCAGTGGACT TTAGTAGTAC TCAGATCCTC CTTTGTTTGG TGCGTAGTAT ATTAACAAGT 
AAACCTGCCT GTATGCTCAC CAGAAAGGAA ACAGAGCATG TCAGTGCTTT GATCCTGAGA 
GCCTTTTTGC TTACAATTCC AGAAAATGCT GAAGGCCACA TCATTTTAGG AAAGAGTTTA 
ATTGTACCTT TAAAAGGTCA AAGAGTTATA GATTCCACTG TATTACCTGG GATACTCATT 
GAAATGTCAG AAGTTCAATT AATGAGGCTA TTACCTATCA AAAAATCAAC TGCCCTCAAG 
GTGGCACTCT TTTGTACAAC TTTATCCGGA GACACTTCTG ACACTGGAGA AGGAACTGTG 
GTGGTCAGTT ATGGGGTTTC TCTTGAAAAT GCAGTCTTGG ACCAGCTGCT TAACCTAGGA 
AGGCAGCTAA TCAGTGACCA CGTAGATCTT GTCCTGTGCC AAAAAGTTAT ACATCCATCT 
TTGAAGCAGT TTCTCAATAT GCATCGTATT ATTGCCATAG ACAGAATTGG AGTGACTCTG 
ATGGAACCCC TGACTAAAAT GACAGGAACA CAGCCTATTG GATCCCTAGG CTCAATATGT 
CCTAATAGTT ATGGAAGTGT GAAAGATGTG TGCACTGCAA AATTTGGCTC CAAACATTTT 
TTTCATCTTA TTCCTAATGA AGCAACAATC TGCAGCTTGC TTCTCTGCAA CAGAAATGAC 
ACTGCCTGGG ATGAGCTGAA GCTCACGTGT CAGACGGCAC TGCATGTCCT GCAGTTAACA 
CTCAAGGAAC CATGGGCTTT GTTGGGAGGT GGCTGTACTG AAACTCATTT GGCTGCATAT 
ATCAGACACA AGACTCACAA CGACCCAGAA AGCATTCTCA AAGATGATGA ATGTACTCAA 
ACAGAACTTC AATTAATTGC TGAAGCATTT TGCAGTGCCC TAGAATCTGT TGTTGGCTCT 
TTAGAACATG ATGGAGGTGA AATTCTCACT GACATGAAGT ATGGACACCT TTGGTCAGTT 
CAGGCAGATT CTCCCTGTGT TGCTAACTGG CCAGATTTGC TTTCACAGTG TGGCTGTGGA 
TTATACAATA GCCAGGAAGA ACTCAACTGG TCTTTCTTAA GAAGCACACG TCGTCCATTT 
GTGCCACAAA GCTGCCTTCC ACATGAAGCT GTGGGCTCAG CCAGCAACCT GACCTTGGAC 
TGTTTGACTG CAAAGCTTAG TGGCCTACAG GTGGCTGTAG AGACAGCCAA TTTGATTTTG 
GATCTTTCAT ATGTTATTGA AGATAAAAAC TAA

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

RefSeq	NP_061336.1
CDS	891..2603
Translation	MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTASIQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTSKPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALKVALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLTLKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSVQADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVAVETANLILDLSYVIEDKN

Target ORF information:

RefSeq Version	NM_018848.3
Organism	Homo sapiens(human)
Definition	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.

Target ORF information:

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

NM_018848.3

ORF Insert Sequence:

ATGTCTCGTT TGGAAGCTAA GAAGCCATCA TTGTGTAAGA GTGAACCACT GACAACTGAG 
AGAGTCAGGA CCACACTTTC TGTCTTGAAA AGAATTGTAA CATCATGCTA TGGCCCCTCA 
GGTAGGCTGA AGCAGCTGCA CAATGGCTTT GGAGGTTACG TGTGTACAAC CTCACAGTCC 
TCAGCTCTGC TCAGTCACCT TTTGGTCACA CATCCCATTT TAAAGATCCT GACAGCCTCC 
ATACAGAATC ATGTGTCAAG CTTCAGTGAT TGTGGCTTAT TCACAGCTAT TCTTTGCTGC 
AACCTGATTG AAAATGTTCA GAGATTAGGC TTGACACCCA CCACTGTCAT TAGATTAAAT 
AAACATCTTT TGAGTCTTTG CATCAGTTAT CTCAAGTCTG AGACCTGTGG TTGTCGAATC 
CCAGTGGACT TTAGTAGTAC TCAGATCCTC CTTTGTTTGG TGCGTAGTAT ATTAACAAGT 
AAACCTGCCT GTATGCTCAC CAGAAAGGAA ACAGAGCATG TCAGTGCTTT GATCCTGAGA 
GCCTTTTTGC TTACAATTCC AGAAAATGCT GAAGGCCACA TCATTTTAGG AAAGAGTTTA 
ATTGTACCTT TAAAAGGTCA AAGAGTTATA GATTCCACTG TATTACCTGG GATACTCATT 
GAAATGTCAG AAGTTCAATT AATGAGGCTA TTACCTATCA AAAAATCAAC TGCCCTCAAG 
GTGGCACTCT TTTGTACAAC TTTATCCGGA GACACTTCTG ACACTGGAGA AGGAACTGTG 
GTGGTCAGTT ATGGGGTTTC TCTTGAAAAT GCAGTCTTGG ACCAGCTGCT TAACCTAGGA 
AGGCAGCTAA TCAGTGACCA CGTAGATCTT GTCCTGTGCC AAAAAGTTAT ACATCCATCT 
TTGAAGCAGT TTCTCAATAT GCATCGTATT ATTGCCATAG ACAGAATTGG AGTGACTCTG 
ATGGAACCCC TGACTAAAAT GACAGGAACA CAGCCTATTG GATCCCTAGG CTCAATATGT 
CCTAATAGTT ATGGAAGTGT GAAAGATGTG TGCACTGCAA AATTTGGCTC CAAACATTTT 
TTTCATCTTA TTCCTAATGA AGCAACAATC TGCAGCTTGC TTCTCTGCAA CAGAAATGAC 
ACTGCCTGGG ATGAGCTGAA GCTCACGTGT CAGACGGCAC TGCATGTCCT GCAGTTAACA 
CTCAAGGAAC CATGGGCTTT GTTGGGAGGT GGCTGTACTG AAACTCATTT GGCTGCATAT 
ATCAGACACA AGACTCACAA CGACCCAGAA AGCATTCTCA AAGATGATGA ATGTACTCAA 
ACAGAACTTC AATTAATTGC TGAAGCATTT TGCAGTGCCC TAGAATCTGT TGTTGGCTCT 
TTAGAACATG ATGGAGGTGA AATTCTCACT GACATGAAGT ATGGACACCT TTGGTCAGTT 
CAGGCAGATT CTCCCTGTGT TGCTAACTGG CCAGATTTGC TTTCACAGTG TGGCTGTGGA 
TTATACAATA GCCAGGAAGA ACTCAACTGG TCTTTCTTAA GAAGCACACG TCGTCCATTT 
GTGCCACAAA GCTGCCTTCC ACATGAAGCT GTGGGCTCAG CCAGCAACCT GACCTTGGAC 
TGTTTGACTG CAAAGCTTAG TGGCCTACAG GTGGCTGTAG AGACAGCCAA TTTGATTTTG 
GATCTTTCAT ATGTTATTGA AGATAAAAAC TAA

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

PubMed

Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes.
Congenital anomalies(2017 Dec)
Ullah A,Khalid M,Umair M,Khan SA,Bilal M,Khan S,Ahmad W

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Molecular vision23482-494(2017)
Ullah A,Umair M,Yousaf M,Khan SA,Nazim-Ud-Din M,Shah K,Ahmad F,Azeem Z,Ali G,Alhaddad B,Rafique A,Jan A,Haack TB,Strom TM,Meitinger T,Ghous T,Ahmad W

Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites.
Biochimica et biophysica acta1830(3)2728-38(2013 Mar)
Akimoto C,Sakashita E,Kasashima K,Kuroiwa K,Tominaga K,Hamamoto T,Endo H

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MKKS 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:

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