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NHLRC1 cDNA ORF clone, Homo sapiens (human)

Gene Symbol NHLRC1
Entrez Gene ID 378884
Full Name NHL repeat containing E3 ubiquitin protein ligase 1
Synonyms EPM2A, EPM2B, MALIN, bA204B7.2
General protein information
Preferred Names
E3 ubiquitin-protein ligase NHLRC1
Names
E3 ubiquitin-protein ligase NHLRC1
NHL repeat-containing protein 1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p22.3

Summary The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]. lac of sum
Disorder MIM:

608072

Disorder Html: Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_198586 NP_940988 E3 ubiquitin-protein ligase NHLRC1



Homo sapiens (human) NHLRC1 NP_940988.2
Pan troglodytes (chimpanzee) NHLRC1 XP_001170828.1
Macaca mulatta (Rhesus monkey) NHLRC1 XP_001097330.1
Canis lupus familiaris (dog) NHLRC1 NP_001006650.1
Bos taurus (cattle) NHLRC1 XP_002697596.1
Mus musculus (house mouse) Nhlrc1 NP_780549.1
Rattus norvegicus (Norway rat) Nhlrc1 NP_954706.1
Gallus gallus (chicken) NHLRC1 XP_426034.2
Xenopus (Silurana) tropicalis (western clawed frog) nhlrc1 XP_002932735.1


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

The following NHLRC1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the NHLRC1 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 RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu18073
NM_198586 Homo sapiens NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$159.50-$223.30
$319.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
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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.


CloneID OHu18073
Clone ID Related Accession (Same CDS sequence) NM_198586
Accession Version NM_198586.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1188bp)
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 COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Product E3 ubiquitin-protein ligase NHLRC1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BK001510.1. This sequence is a reference standard in the RefSeqGene project. On Dec 20, 2003 this sequence version replaced gi:38348439. 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 :: BK001510.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGCGGCCG AAGCCTCGGA GAGCGGGCCA GCGCTGCATG AGCTCATGCG CGAGGCGGAG 
ATCAGCCTGC TCGAGTGCAA GGTGTGCTTT GAGAAGTTTG GCCACCGGCA GCAGCGGCGC
CCGCGCAACC TGTCCTGCGG CCACGTGGTC TGCCTGGCCT GCGTGGCCGC CCTGGCGCAC
CCGCGCACTC TGGCCCTCGA GTGCCCATTC TGCAGGCGAG CTTGCCGGGG CTGCGACACC
AGCGACTGCC TGCCGGTGCT GCACCTCATA GAGCTCCTGG GCTCAGCGCT TCGCCAGTCC
CCGGCCGCCC ATCGCGCCGC CCCCAGCGCC CCCGGAGCCC TCACCTGCCA CCACACCTTC
GGCGGCTGGG GGACCCTGGT CAACCCCACC GGACTGGCGC TTTGTCCCAA GACGGGGCGT
GTCGTGGTGG TGCACGACGG CAGGAGGCGT GTCAAGATTT TTGACTCAGG GGGAGGATGC
GCGCATCAGT TTGGAGAGAA GGGGGACGCT GCCCAAGACA TTAGGTACCC TGTGGATGTC
ACCATCACCA ACGACTGCCA TGTGGTTGTC ACTGACGCCG GCGATCGCTC CATCAAAGTG
TTTGATTTTT TTGGCCAGAT CAAGCTTGTC ATTGGAGGCC AATTCTCCTT ACCTTGGGGT
GTGGAGACCA CCCCTCAGAA TGGGATTGTG GTAACTGATG CGGAGGCAGG GTCCCTGCAC
CTCCTGGACG TCGACTTCGC GGAAGGGGTC CTTCGGAGAA CTGAAAGGTT GCAAGCTCAT
CTGTGCAATC CCCGAGGGGT GGCAGTGTCT TGGCTCACCG GGGCCATTGC GGTCCTGGAG
CACCCCCTGG CCCTGGGGAC TGGGGTTTGC AGCACCAGGG TGAAAGTGTT TAGCTCAAGT
ATGCAGCTTG TCGGCCAAGT GGATACCTTT GGGCTGAGCC TCTACTTTCC CTCCAAAATA
ACTGCCTCCG CTGTGACCTT TGATCACCAG GGAAATGTGA TTGTTGCAGA TACATCTGGT
CCAGCTATCC TTTGCTTAGG AAAACCTGAG GAGTTTCCAG TACCGAAGCC CATGGTCACT
CATGGTCTTT CGCATCCTGT GGCTCTTACC TTCACCAAGG AGAATTCTCT TCTTGTGCTG
GACACAGCAT CTCATTCTAT AAAAGTCTAT AAAGTTGACT GGGGGTGA

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

RefSeq NP_940988.2
CDS15..1202
Misc Feature(1)87..239(+)
Misc Feature(2)90..227(+)
Misc Feature(3)351..485(+)
Misc Feature(4)366..1187(+)
Misc Feature(5)399..521(+)
Misc Feature(6)495..626(+)
Misc Feature(7)543..662(+)
Misc Feature(8)627..749(+)
Misc Feature(9)666..791(+)
Misc Feature(10)756..914(+)
Misc Feature(11)795..953(+)
Misc Feature(12)915..1061(+)
Misc Feature(13)975..1073(+)
Misc Feature(14)1062..1193(+)
Misc Feature(15)1104..1184(+)
Exon (1)1..2134
Gene:NHLRC1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_198586
Organism Homo sapiens (human)
Definition Homo sapiens NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_198586

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGCGGCCG AAGCCTCGGA GAGCGGGCCA GCGCTGCATG AGCTCATGCG CGAGGCGGAG 
ATCAGCCTGC TCGAGTGCAA GGTGTGCTTT GAGAAGTTTG GCCACCGGCA GCAGCGGCGC
CCGCGCAACC TGTCCTGCGG CCACGTGGTC TGCCTGGCCT GCGTGGCCGC CCTGGCGCAC
CCGCGCACTC TGGCCCTCGA GTGCCCATTC TGCAGGCGAG CTTGCCGGGG CTGCGACACC
AGCGACTGCC TGCCGGTGCT GCACCTCATA GAGCTCCTGG GCTCAGCGCT TCGCCAGTCC
CCGGCCGCCC ATCGCGCCGC CCCCAGCGCC CCCGGAGCCC TCACCTGCCA CCACACCTTC
GGCGGCTGGG GGACCCTGGT CAACCCCACC GGACTGGCGC TTTGTCCCAA GACGGGGCGT
GTCGTGGTGG TGCACGACGG CAGGAGGCGT GTCAAGATTT TTGACTCAGG GGGAGGATGC
GCGCATCAGT TTGGAGAGAA GGGGGACGCT GCCCAAGACA TTAGGTACCC TGTGGATGTC
ACCATCACCA ACGACTGCCA TGTGGTTGTC ACTGACGCCG GCGATCGCTC CATCAAAGTG
TTTGATTTTT TTGGCCAGAT CAAGCTTGTC ATTGGAGGCC AATTCTCCTT ACCTTGGGGT
GTGGAGACCA CCCCTCAGAA TGGGATTGTG GTAACTGATG CGGAGGCAGG GTCCCTGCAC
CTCCTGGACG TCGACTTCGC GGAAGGGGTC CTTCGGAGAA CTGAAAGGTT GCAAGCTCAT
CTGTGCAATC CCCGAGGGGT GGCAGTGTCT TGGCTCACCG GGGCCATTGC GGTCCTGGAG
CACCCCCTGG CCCTGGGGAC TGGGGTTTGC AGCACCAGGG TGAAAGTGTT TAGCTCAAGT
ATGCAGCTTG TCGGCCAAGT GGATACCTTT GGGCTGAGCC TCTACTTTCC CTCCAAAATA
ACTGCCTCCG CTGTGACCTT TGATCACCAG GGAAATGTGA TTGTTGCAGA TACATCTGGT
CCAGCTATCC TTTGCTTAGG AAAACCTGAG GAGTTTCCAG TACCGAAGCC CATGGTCACT
CATGGTCTTT CGCATCCTGT GGCTCTTACC TTCACCAAGG AGAATTCTCT TCTTGTGCTG
GACACAGCAT CTCATTCTAT AAAAGTCTAT AAAGTTGACT GGGGGTGA

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

book

Lafora disease E3 ubiquitin ligase malin is recruited to the processing bodies and regulates the microRNA-mediated gene silencing process via the decapping enzyme Dcp1a
RNA Biol 9 (12), 1440-1449 (2012)
Singh S, Singh PK, Bhadauriya P and Ganesh S.


book

Deciphering the role of malin in the lafora progressive myoclonus epilepsy
IUBMB Life 64 (10), 801-808 (2012)
Roma-Mateo C, Sanz P and Gentry MS.


book

Malin regulates Wnt signaling pathway through degradation of dishevelled2
J. Biol. Chem. 287 (9), 6830-6839 (2012)
Sharma J, Mulherkar S, Mukherjee D and Jana NR.


book

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families
Epilepsy Res. 98 (2-3), 273-276 (2012)
Salar S, Yeni N, Gunduz A, Guler A, Gokcay A, Velioglu S, Gundogdu A and Hande Caglayan S.


book

Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level
BMC Evol. Biol. 11, 225 (2011)
Roma-Mateo C, Moreno D, Vernia S, Rubio T, Bridges TM, Gentry MS and Sanz P.


book

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin
Proc. Natl. Acad. Sci. U.S.A. 102 (24), 8501-8506 (2005)
Gentry MS, Worby CA and Dixon JE.


book

Lafora disease due to EPM2B mutations: a clinical and genetic study
Neurology 64 (6), 982-986 (2005)
Gomez-Abad C, Gomez-Garre P, Gutierrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodriguez de Cordoba S and Serratosa JM.


book

The DNA sequence and analysis of human chromosome 6
Nature 425 (6960), 805-811 (2003)
Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J and Beck S.


book

Mutations in NHLRC1 cause progressive myoclonus epilepsy
Nat. Genet. 35 (2), 125-127 (2003)
Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA and Scherer SW.


book

Progressive Myoclonus Epilepsy, Lafora Type
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Jansen,A.C. and Andermann,E.


 
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