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INPP5E cDNA ORF clone, Homo sapiens (human)

Gene Symbol INPP5E
Entrez Gene ID 56623
Full Name inositol polyphosphate-5-phosphatase E
Synonyms CORS1, CPD4, JBTS1, MORMS, PPI5PIV
General protein information
Preferred Names
72 kDa inositol polyphosphate 5-phosphatase
Names
72 kDa inositol polyphosphate 5-phosphatase
phosphatidylinositol 4,5-bisphosphate 5-phosphatase
phosphatidylinositol-4,5-bisphosphate 5-phosphatase
phosphatidylinositol (4,5) bisphosphate 5-phosphatase
phosphatidylinositol polyphosphate 5-phosphatase type IV
NP_063945.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q34.3

Summary The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly.[provided by RefSeq, Feb 2011]. lac of sum
Disorder MIM:

613037

Disorder Html: Mental retardation, truncal obesity, retinal dystrophy, and

mRNA and Protein(s)

mRNA Protein Name
NM_019892 NP_063945 72 kDa inositol polyphosphate 5-phosphatase
XM_005266094 XP_005266151 72 kDa inositol polyphosphate 5-phosphatase isoform X1



Homo sapiens (human) INPP5E NP_063945.2
Pan troglodytes (chimpanzee) INPP5E NP_001070981.1
Macaca mulatta (Rhesus monkey) INPP5E XP_001095203.1
Canis lupus familiaris (dog) INPP5E XP_005625166.1
Bos taurus (cattle) INPP5E NP_001179019.1
Mus musculus (house mouse) Inpp5e NP_149125.1
Rattus norvegicus (Norway rat) Inpp5e NP_446084.1
Gallus gallus (chicken) INPP5E XP_415418.2
Danio rerio (zebrafish) inpp5e NP_001096089.2
Xenopus (Silurana) tropicalis (western clawed frog) inpp5e XP_002935265.1


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

The following INPP5E gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the INPP5E 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
OHu27383 NM_019892 Homo sapiens inositol polyphosphate-5-phosphatase E (INPP5E), mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $265.30
$379.00
OHu43395 XM_005266094 PREDICTED: Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector TBD $307.30
$439.00
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.


CloneID OHu27383
Clone ID Related Accession (Same CDS sequence) NM_019892
Accession Version NM_019892.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1935bp)
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
Structure linear
Update Date 23-AUG-2015
Organism Homo sapiens (human)
Product 72 kDa inositol polyphosphate 5-phosphatase
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC028032.1 and BE044535.1. This sequence is a reference standard in the RefSeqGene project. On Mar 25, 2011 this sequence version replaced gi:47078290. 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 :: BC028032.1, AF187891.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-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
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGCCGTCCA AGGCGGAGAA TCTGCGGCCC TCCGAGCCGG CCCCGCAGCC GCCGGAAGGG 
AGGACGCTCC AAGGACAGCT TCCCGGCGCT CCGCCGGCCC AGCGCGCGGG GTCCCCACCC
GATGCTCCGG GCTCCGAGAG CCCCGCGCTT GCCTGCAGCA CTCCGGCCAC GCCCAGCGGC
GAGGACCCGC CAGCCCGAGC AGCACCCATC GCCCCGCGGC CCCCCGCCAG GCCTCGACTG
GAGCGAGCCC TGTCCCTGGA CGACAAGGGC TGGAGGAGGA GGCGTTTTCG AGGCAGCCAG
GAGGACCTGG AAGCCCGGAA TGGGACCAGT CCCTCCAGGG GCTCAGTGCA GAGCGAGGGC
CCCGGGGCCC CCGCCCACAG CTGCTCCCCG CCCTGCCTGA GCACCTCCTT GCAGGAAATC
CCCAAGTCCC GCGGGGTCCT GAGCAGTGAG AGAGGGAGCC CGTCCTCGGG GGGTAACCCT
CTCTCTGGGG TGGCCAGCAG CTCCCCGAAC CTCCCGCACA GAGACGCCGC CGTGGCGGGG
AGCTCGCCCA GGCTGCCCAG CCTGCTGCCC CCGCGCCCAC CGCCTGCCCT GAGCCTGGAC
ATCGCCTCCG ACTCCCTGAG GACAGCAAAC AAGGTCGACT CGGATCTTGC AGACTACAAG
CTCCGCGCGC AGCCGCTCCT GGTGCGGGCC CACAGCAGCC TGGGCCCCGG CCGGCCGCGG
AGCCCCCTGG CCTGCGACGA CTGTTCCCTT CGCTCGGCCA AATCCTCCTT CAGCCTCCTG
GCGCCCATCC GCAGCAAGGA CGTCCGCAGC AGGAGTTACC TGGAGGGCAG CCTCCTGGCC
AGCGGGGCCC TGTTGGGGGC GGATGAGCTG GCCCGCTACT TCCCAGACCG GAACGTGGCA
CTCTTCGTGG CCACCTGGAA CATGCAGGGC CAGAAGGAGC TCCCGCCCAG CCTGGACGAG
TTCCTGCTCC CAGCCGAGGC CGACTATGCC CAGGACCTGT ATGTCATCGG GGTCCAGGAG
GGCTGTTCTG ACAGGCGGGA GTGGGAGACT CGTCTGCAGG AGACGCTGGG CCCGCACTAT
GTGCTGCTGT CCTCGGCGGC CCACGGCGTG CTCTACATGT CGCTCTTCAT CCGCAGGGAC
CTCATCTGGT TCTGCTCAGA GGTGGAGTGC TCCACGGTGA CCACACGCAT CGTGTCTCAG
ATCAAGACCA AGGGGGCCTT GGGCATCAGC TTCACCTTTT TTGGCACTTC CTTCCTCTTC
ATCACGTCCC ACTTCACCTC AGGTGACGGG AAGGTGGCGG AGCGGCTGCT GGACTACACC
AGGACTGTAC AAGCCCTGGT CCTGCCCAGA AATGTGCCCG ACACCAACCC CTATCGCTCC
AGCGCAGCGG ACGTCACCAC CCGCTTCGAT GAGGTGTTCT GGTTTGGAGA CTTCAACTTC
CGCCTGAGTG GCGGGCGCAC AGTCGTGGAC GCCCTCCTGT GCCAGGGCCT GGTGGTGGAC
GTGCCGGCGC TGCTGCAGCA CGACCAGCTC ATCCGGGAGA TGCGGAAAGG GTCCATCTTC
AAGGGCTTCC AGGAGCCGGA CATCCACTTC CTCCCATCAT ACAAGTTTGA CATCGGGAAG
GACACGTACG ACAGCACCTC CAAGCAGAGG ACGCCCTCAT ACACGGACCG CGTCTTGTAC
AGAAGCCGCC ACAAGGGTGA CATCTGTCCT GTGAGCTACT CTTCCTGCCC CGGGATCAAG
ACGTCCGACC ACCGCCCTGT GTATGGCCTC TTCCGGGTGA AAGTGAGGCC GGGGCGAGAC
AACATTCCGT TGGCAGCTGG CAAATTTGAT AGAGAACTGT ACTTACTAGG AATTAAAAGA
CGGATTTCGA AGGAGATTCA GAGGCAGCAA GCACTACAGA GTCAGAACTC CAGCACCATC
TGCTCCGTTT CTTGA

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

RefSeq NP_063945.2
CDS386..2320
Misc Feature(1)329..331(+)
Misc Feature(2)413..1111(+)
Misc Feature(3)680..682(+)
Misc Feature(4)680..682(+)
Misc Feature(5)1268..2164(+)
Misc Feature(6)1304..2137(+)
Misc Feature(7)1304..2137(+)
Misc Feature(8)1403..2134(+)
Misc Feature(9)1403..2134(+)
Misc Feature(10)1655..2137(+)
Misc Feature(11)2306..2308(+)
Exon (1)1..1197
Gene:INPP5E
Gene Synonym:
Exon (2)1198..1321
Gene:INPP5E
Gene Synonym:
Exon (3)1322..1419
Gene:INPP5E
Gene Synonym:
Exon (4)1420..1544
Gene:INPP5E
Gene Synonym:
Exon (5)1545..1664
Gene:INPP5E
Gene Synonym:
Exon (6)1665..1772
Gene:INPP5E
Gene Synonym:
Exon (7)1773..1934
Gene:INPP5E
Gene Synonym:
Exon (8)1935..2050
Gene:INPP5E
Gene Synonym:
Exon (9)2051..2187
Gene:INPP5E
Gene Synonym:
Exon (10)2188..3380
Gene:INPP5E
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_019892
Organism Homo sapiens (human)
Definition Homo sapiens inositol polyphosphate-5-phosphatase E (INPP5E), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_019892

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGCCGTCCA AGGCGGAGAA TCTGCGGCCC TCCGAGCCGG CCCCGCAGCC GCCGGAAGGG 
AGGACGCTCC AAGGACAGCT TCCCGGCGCT CCGCCGGCCC AGCGCGCGGG GTCCCCACCC
GATGCTCCGG GCTCCGAGAG CCCCGCGCTT GCCTGCAGCA CTCCGGCCAC GCCCAGCGGC
GAGGACCCGC CAGCCCGAGC AGCACCCATC GCCCCGCGGC CCCCCGCCAG GCCTCGACTG
GAGCGAGCCC TGTCCCTGGA CGACAAGGGC TGGAGGAGGA GGCGTTTTCG AGGCAGCCAG
GAGGACCTGG AAGCCCGGAA TGGGACCAGT CCCTCCAGGG GCTCAGTGCA GAGCGAGGGC
CCCGGGGCCC CCGCCCACAG CTGCTCCCCG CCCTGCCTGA GCACCTCCTT GCAGGAAATC
CCCAAGTCCC GCGGGGTCCT GAGCAGTGAG AGAGGGAGCC CGTCCTCGGG GGGTAACCCT
CTCTCTGGGG TGGCCAGCAG CTCCCCGAAC CTCCCGCACA GAGACGCCGC CGTGGCGGGG
AGCTCGCCCA GGCTGCCCAG CCTGCTGCCC CCGCGCCCAC CGCCTGCCCT GAGCCTGGAC
ATCGCCTCCG ACTCCCTGAG GACAGCAAAC AAGGTCGACT CGGATCTTGC AGACTACAAG
CTCCGCGCGC AGCCGCTCCT GGTGCGGGCC CACAGCAGCC TGGGCCCCGG CCGGCCGCGG
AGCCCCCTGG CCTGCGACGA CTGTTCCCTT CGCTCGGCCA AATCCTCCTT CAGCCTCCTG
GCGCCCATCC GCAGCAAGGA CGTCCGCAGC AGGAGTTACC TGGAGGGCAG CCTCCTGGCC
AGCGGGGCCC TGTTGGGGGC GGATGAGCTG GCCCGCTACT TCCCAGACCG GAACGTGGCA
CTCTTCGTGG CCACCTGGAA CATGCAGGGC CAGAAGGAGC TCCCGCCCAG CCTGGACGAG
TTCCTGCTCC CAGCCGAGGC CGACTATGCC CAGGACCTGT ATGTCATCGG GGTCCAGGAG
GGCTGTTCTG ACAGGCGGGA GTGGGAGACT CGTCTGCAGG AGACGCTGGG CCCGCACTAT
GTGCTGCTGT CCTCGGCGGC CCACGGCGTG CTCTACATGT CGCTCTTCAT CCGCAGGGAC
CTCATCTGGT TCTGCTCAGA GGTGGAGTGC TCCACGGTGA CCACACGCAT CGTGTCTCAG
ATCAAGACCA AGGGGGCCTT GGGCATCAGC TTCACCTTTT TTGGCACTTC CTTCCTCTTC
ATCACGTCCC ACTTCACCTC AGGTGACGGG AAGGTGGCGG AGCGGCTGCT GGACTACACC
AGGACTGTAC AAGCCCTGGT CCTGCCCAGA AATGTGCCCG ACACCAACCC CTATCGCTCC
AGCGCAGCGG ACGTCACCAC CCGCTTCGAT GAGGTGTTCT GGTTTGGAGA CTTCAACTTC
CGCCTGAGTG GCGGGCGCAC AGTCGTGGAC GCCCTCCTGT GCCAGGGCCT GGTGGTGGAC
GTGCCGGCGC TGCTGCAGCA CGACCAGCTC ATCCGGGAGA TGCGGAAAGG GTCCATCTTC
AAGGGCTTCC AGGAGCCGGA CATCCACTTC CTCCCATCAT ACAAGTTTGA CATCGGGAAG
GACACGTACG ACAGCACCTC CAAGCAGAGG ACGCCCTCAT ACACGGACCG CGTCTTGTAC
AGAAGCCGCC ACAAGGGTGA CATCTGTCCT GTGAGCTACT CTTCCTGCCC CGGGATCAAG
ACGTCCGACC ACCGCCCTGT GTATGGCCTC TTCCGGGTGA AAGTGAGGCC GGGGCGAGAC
AACATTCCGT TGGCAGCTGG CAAATTTGAT AGAGAACTGT ACTTACTAGG AATTAAAAGA
CGGATTTCGA AGGAGATTCA GAGGCAGCAA GCACTACAGA GTCAGAACTC CAGCACCATC
TGCTCCGTTT CTTGA

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

CloneID OHu43395
Clone ID Related Accession (Same CDS sequence) XM_005266094
Accession Version XM_005266094.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1932bp)
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
Structure linear
Update Date 12-MAR-2015
Organism Homo sapiens (human)
Product 72 kDa inositol polyphosphate 5-phosphatase isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NT_008470.20) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process On Mar 12, 2015 this sequence version replaced gi:530426766. ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 107 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 6.2 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
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481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGCCGTCCA AGGCGGAGAA TCTGCGGCCC TCCGAGCCGG CCCCGCAGCC GCCGGAAGGG 
AGGACGCTCC AAGGACAGCT TCCCGGCGCT CCGCCGGCCC AGCGCGCGGG GTCCCCACCC
GATGCTCCGG GCTCCGAGAG CCCCGCGCTT GCCTGCAGCA CTCCGGCCAC GCCCAGCGGC
GAGGACCCGC CAGCCCGAGC AGCACCCATC GCCCCGCGGC CCCCCGCCAG GCCTCGACTG
GAGCGAGCCC TGTCCCTGGA CGACAAGGGC TGGAGGAGGA GGCGTTTTCG AGGCAGCCAG
GAGGACCTGG AAGCCCGGAA TGGGACCAGT CCCTCCAGGG GCTCAGTGCA GAGCGAGGGC
CCCGGGGCCC CCGCCCACAG CTGCTCCCCG CCCTGCCTGA GCACCTCCTT GCAGGAAATC
CCCAAGTCCC GCGGGGTCCT GAGCAGTGAG AGAGGGAGCC CGTCCTCGGG GGGTAACCCT
CTCTCTGGGG TGGCCAGCAG CTCCCCGAAC CTCCCGCACA GAGACGCCGC CGTGGCGGGG
AGCTCGCCCA GGCTGCCCAG CCTGCTGCCC CCGCGCCCAC CGCCTGCCCT GAGCCTGGAC
ATCGCCTCCG ACTCCCTGAG GACAGCAAAC AAGGTCGACT CGGATCTTGC AGACTACAAG
CTCCGCGCGC AGCCGCTCCT GGTGCGGGCC CACAGCAGCC TGGGCCCCGG CCGGCCGCGG
AGCCCCCTGG CCTGCGACGA CTGTTCCCTT CGCTCGGCCA AATCCTCCTT CAGCCTCCTG
GCGCCCATCC GCAGCAAGGA CGTCCGCAGC AGGAGTTACC TGGAGGGCAG CCTCCTGGCC
AGCGGGGCCC TGTTGGGGGC GGATGAGCTG GCCCGCTACT TCCCAGACCG GAACGTGGCA
CTCTTCGTGG CCACCTGGAA CATGCAGGGC CAGAAGGAGC TCCCGCCCAG CCTGGACGAG
TTCCTGCTCC CAGCCGAGGC CGACTATGCC CAGGACCTGT ATGTCATCGG GGTCCAGGAG
GGCTGTTCTG ACAGGCGGGA GTGGGAGACT CGTCTGCAGG AGACGCTGGG CCCGCACTAT
GTGCTGCTGT CCTCGGCGGC CCACGGCGTG CTCTACATGT CGCTCTTCAT CCGCAGGGAC
CTCATCTGGT TCTGCTCAGA GGTGGAGTGC TCCACGGTGA CCACACGCAT CGTGTCTCAG
ATCAAGACCA AGGGGGCCTT GGGCATCAGC TTCACCTTTT TTGGCACTTC CTTCCTCTTC
ATCACGTCCC ACTTCACCTG TGACGGGAAG GTGGCGGAGC GGCTGCTGGA CTACACCAGG
ACTGTACAAG CCCTGGTCCT GCCCAGAAAT GTGCCCGACA CCAACCCCTA TCGCTCCAGC
GCAGCGGACG TCACCACCCG CTTCGATGAG GTGTTCTGGT TTGGAGACTT CAACTTCCGC
CTGAGTGGCG GGCGCACAGT CGTGGACGCC CTCCTGTGCC AGGGCCTGGT GGTGGACGTG
CCGGCGCTGC TGCAGCACGA CCAGCTCATC CGGGAGATGC GGAAAGGGTC CATCTTCAAG
GGCTTCCAGG AGCCGGACAT CCACTTCCTC CCATCATACA AGTTTGACAT CGGGAAGGAC
ACGTACGACA GCACCTCCAA GCAGAGGACG CCCTCATACA CGGACCGCGT CTTGTACAGA
AGCCGCCACA AGGGTGACAT CTGTCCTGTG AGCTACTCTT CCTGCCCCGG GATCAAGACG
TCCGACCACC GCCCTGTGTA TGGCCTCTTC CGGGTGAAAG TGAGGCCGGG GCGAGACAAC
ATTCCGTTGG CAGCTGGCAA ATTTGATAGA GAACTGTACT TACTAGGAAT TAAAAGACGG
ATTTCGAAGG AGATTCAGAG GCAGCAAGCA CTACAGAGTC AGAACTCCAG CACCATCTGC
TCCGTTTCTT GA

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

RefSeq XP_005266151.1
CDS441..2372
Misc Feature(1)1323..2216(+)
Misc Feature(2)1359..2189(+)
Misc Feature(3)1359..2189(+)
Misc Feature(4)1458..2186(+)
Misc Feature(5)1458..2186(+)
Misc Feature(6)1710..2189(+)
Translation

Target ORF information:

RefSeq Version XM_005266094
Organism Homo sapiens (human)
Definition PREDICTED: Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_005266094

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
ATGCCGTCCA AGGCGGAGAA TCTGCGGCCC TCCGAGCCGG CCCCGCAGCC GCCGGAAGGG 
AGGACGCTCC AAGGACAGCT TCCCGGCGCT CCGCCGGCCC AGCGCGCGGG GTCCCCACCC
GATGCTCCGG GCTCCGAGAG CCCCGCGCTT GCCTGCAGCA CTCCGGCCAC GCCCAGCGGC
GAGGACCCGC CAGCCCGAGC AGCACCCATC GCCCCGCGGC CCCCCGCCAG GCCTCGACTG
GAGCGAGCCC TGTCCCTGGA CGACAAGGGC TGGAGGAGGA GGCGTTTTCG AGGCAGCCAG
GAGGACCTGG AAGCCCGGAA TGGGACCAGT CCCTCCAGGG GCTCAGTGCA GAGCGAGGGC
CCCGGGGCCC CCGCCCACAG CTGCTCCCCG CCCTGCCTGA GCACCTCCTT GCAGGAAATC
CCCAAGTCCC GCGGGGTCCT GAGCAGTGAG AGAGGGAGCC CGTCCTCGGG GGGTAACCCT
CTCTCTGGGG TGGCCAGCAG CTCCCCGAAC CTCCCGCACA GAGACGCCGC CGTGGCGGGG
AGCTCGCCCA GGCTGCCCAG CCTGCTGCCC CCGCGCCCAC CGCCTGCCCT GAGCCTGGAC
ATCGCCTCCG ACTCCCTGAG GACAGCAAAC AAGGTCGACT CGGATCTTGC AGACTACAAG
CTCCGCGCGC AGCCGCTCCT GGTGCGGGCC CACAGCAGCC TGGGCCCCGG CCGGCCGCGG
AGCCCCCTGG CCTGCGACGA CTGTTCCCTT CGCTCGGCCA AATCCTCCTT CAGCCTCCTG
GCGCCCATCC GCAGCAAGGA CGTCCGCAGC AGGAGTTACC TGGAGGGCAG CCTCCTGGCC
AGCGGGGCCC TGTTGGGGGC GGATGAGCTG GCCCGCTACT TCCCAGACCG GAACGTGGCA
CTCTTCGTGG CCACCTGGAA CATGCAGGGC CAGAAGGAGC TCCCGCCCAG CCTGGACGAG
TTCCTGCTCC CAGCCGAGGC CGACTATGCC CAGGACCTGT ATGTCATCGG GGTCCAGGAG
GGCTGTTCTG ACAGGCGGGA GTGGGAGACT CGTCTGCAGG AGACGCTGGG CCCGCACTAT
GTGCTGCTGT CCTCGGCGGC CCACGGCGTG CTCTACATGT CGCTCTTCAT CCGCAGGGAC
CTCATCTGGT TCTGCTCAGA GGTGGAGTGC TCCACGGTGA CCACACGCAT CGTGTCTCAG
ATCAAGACCA AGGGGGCCTT GGGCATCAGC TTCACCTTTT TTGGCACTTC CTTCCTCTTC
ATCACGTCCC ACTTCACCTG TGACGGGAAG GTGGCGGAGC GGCTGCTGGA CTACACCAGG
ACTGTACAAG CCCTGGTCCT GCCCAGAAAT GTGCCCGACA CCAACCCCTA TCGCTCCAGC
GCAGCGGACG TCACCACCCG CTTCGATGAG GTGTTCTGGT TTGGAGACTT CAACTTCCGC
CTGAGTGGCG GGCGCACAGT CGTGGACGCC CTCCTGTGCC AGGGCCTGGT GGTGGACGTG
CCGGCGCTGC TGCAGCACGA CCAGCTCATC CGGGAGATGC GGAAAGGGTC CATCTTCAAG
GGCTTCCAGG AGCCGGACAT CCACTTCCTC CCATCATACA AGTTTGACAT CGGGAAGGAC
ACGTACGACA GCACCTCCAA GCAGAGGACG CCCTCATACA CGGACCGCGT CTTGTACAGA
AGCCGCCACA AGGGTGACAT CTGTCCTGTG AGCTACTCTT CCTGCCCCGG GATCAAGACG
TCCGACCACC GCCCTGTGTA TGGCCTCTTC CGGGTGAAAG TGAGGCCGGG GCGAGACAAC
ATTCCGTTGG CAGCTGGCAA ATTTGATAGA GAACTGTACT TACTAGGAAT TAAAAGACGG
ATTTCGAAGG AGATTCAGAG GCAGCAAGCA CTACAGAGTC AGAACTCCAG CACCATCTGC
TCCGTTTCTT GA

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

book

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
Hum. Mutat. 35 (1), 137-146 (2014)
Thomas,S., Wright,K.J., Le Corre,S., Micalizzi,A., Romani,M., Abhyankar,A., Saada,J., Perrault,I., Amiel,J., Litzler,J., Filhol,E., Elkhartoufi,N., Kwong,M., Casanova,J.L., Boddaert,N., Baehr,W., Lyonnet,S., Munnich,A., Burglen,L., Chassaing,N., Encha-Ravazi,F., Vekemans,M., Gleeson,J.G., Valente,E.M., Jackson,P.K., Drummond,I.A., Saunier,S. and Attie-Bitach,T.


book

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Eur. J. Hum. Genet. 21 (10), 1074-1078 (2013)
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, Johnson C, Attie-Bitach T, Gleeson JG and Valente EM.


book

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting
Proc. Natl. Acad. Sci. U.S.A. 109 (48), 19691-19696 (2012)
Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC and Seo S.


book

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease
Nature 491 (7422), 119-124 (2012)
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Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network
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The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase
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Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
Am. J. Hum. Genet. 65 (6), 1666-1671 (1999)
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Congenital Hepatic Fibrosis Overview
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Joubert Syndrome and Related Disorders
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