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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

NHL repeat containing E3 ubiquitin protein ligase 1

Names

E3 ubiquitin-protein ligase NHLRC1
NHL repeat containing 1
NHL repeat-containing protein 1
RING-type E3 ubiquitin transferase NHLRC1

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].
Disorder MIM:

608072

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

mRNA and Protein(s)

mRNA Protein Name
NM_198586.2 NP_940988.2 E3 ubiquitin-protein ligase NHLRC1



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


Related articles in PubMed

Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.
Mittal S, Upadhyay M, Singh PK, Parihar R, Ganesh S
Journal of biosciences40(5)863-71(2015 Dec)

The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2.
Viana R, Lujan P, Sanz P
BMC biochemistry1624(2015 Oct)

Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
Upadhyay M, Gupta S, Bhadauriya P, Ganesh S
Biochemical and biophysical research communications464(1)106-11(2015 Aug)

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-López R, Franceschetti S, Aguglia U
Epilepsia55(12)e129-33(2014 Dec)

Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.
Liu Y, Zeng L, Ma K, Baba O, Zheng P, Liu Y, Wang Y
Molecular neurobiology49(2)645-57(2014 Apr)

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

Malin promotes its own degradation via auto-ubiquitination.Malin preferentially degrades the phosphatase-inactive laforin monomer.
Title: Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.

laforin/malin complex is able to interact with and ubiquitinate both PKM1 and PKM2
Title: The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2.

Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
Title: Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.

This study demonistrated that NHLRC1 mutations were detected in some case of Mild Lafora disease patients.
Title: Mild Lafora disease: clinical, neurophysiologic, and genetic findings.

Without functional laforin-malin complex assembled on polyglucosan bodies, polyglucosan is not degraded.
Title: Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.

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.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu18073 NM_198586.2
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Homo sapiens NHL repeat containing E3 ubiquitin protein ligase 1 (NHLRC1), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
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** 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_198586.2
Accession Version NM_198586.2 Latest version! 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
Insert Structure linear
Update Date 2017-04-26
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 NM_198586.1. 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 is intronless :: BK001510.1, SRR1803615.16296.1 [ECO:0000345] ##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..233
Misc Feature(2)order(90..92,99..101,150..152,156..158,165..167,174..176,216..218,225..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)546..647
Misc Feature(9)627..749
Misc Feature(10)666..791
Misc Feature(11)756..914
Misc Feature(12)795..953
Misc Feature(13)915..1061
Misc Feature(14)975..1073
Misc Feature(15)1062..1193
Misc Feature(16)1104..1184
Exon (1)1..2134
Translation

Target ORF information:

RefSeq Version NM_198586.2
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_198586.2

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

Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.
Journal of biosciences40(5)863-71(2015 Dec)
Mittal S,Upadhyay M,Singh PK,Parihar R,Ganesh S


book

The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2.
BMC biochemistry1624(2015 Oct)
Viana R,Lujan P,Sanz P


book

Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway.
Biochemical and biophysical research communications464(1)106-11(2015 Aug)
Upadhyay M,Gupta S,Bhadauriya P,Ganesh S


book

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Epilepsia55(12)e129-33(2014 Dec)
Ferlazzo E,Canafoglia L,Michelucci R,Gambardella A,Gennaro E,Pasini E,Riguzzi P,Plasmati R,Volpi L,Labate A,Gasparini S,Villani F,Casazza M,Viri M,Zara F,Minassian BA,Turnbull J,Serratosa JM,Guerrero-López R,Franceschetti S,Aguglia U


book

Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.
Molecular neurobiology49(2)645-57(2014 Apr)
Liu Y,Zeng L,Ma K,Baba O,Zheng P,Liu Y,Wang Y


 
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