PTDSS1 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	PTDSS1
Entrez Gene ID	9791
Full Name	phosphatidylserine synthase 1
Synonyms	LMHD,PSS1,PSSA
General protein information	Preferred Names phosphatidylserine synthase 1 Names phosphatidylserine synthase 1 PSS-1 ptdSer synthase 1 serine-exchange enzyme I
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 8 Map Location: 8q22.1
Summary	The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014].
Disorder MIM:	612792
Disorder Html:	Lenz-Majewski hyperostotic dwarfism, 151050 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001290225.1	NP_001277154.1	phosphatidylserine synthase 1 isoform 2
NM_001290225.2	NP_001277154.1	phosphatidylserine synthase 1 isoform 2
NM_014754.2	NP_055569.1	phosphatidylserine synthase 1 isoform 1
NM_014754.3	NP_055569.1	phosphatidylserine synthase 1 isoform 1

Pathways from BioSystems

Homologies

Drosophila melanogaster (fruit fly)	CG4825	NP_001262118.1
Caenorhabditis elegans (roundworm)	pssy-1	NP_509673.1
Danio rerio (zebrafish)	ptdss1a	NP_957250.1
Xenopus tropicalis (tropical clawed frog)	ptdss1	NP_001120508.1
Homo sapiens (human)	PTDSS1	NP_055569.1
Bos taurus (cattle)	PTDSS1	NP_001039505.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP012146	XP_320381.3
Caenorhabditis elegans (roundworm)	pssy-2	NP_499786.2
	PTDSS1	XP_001091545.1
Rattus norvegicus (Norway rat)	Ptdss1	NP_001012113.1
Pan troglodytes (chimpanzee)	PTDSS1	XP_519868.2
Canis lupus familiaris (dog)	PTDSS1	XP_854779.3
Mus musculus (house mouse)	Ptdss1	NP_032985.2
Gallus gallus (chicken)	PTDSS1	NP_001026676.1
Danio rerio (zebrafish)	ptdss1b	XP_687872.5

Gene Ontology
Bibliography

Related articles in PubMed

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L
American journal of medical genetics. Part A(2018 Jan)

Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
Sohn M, Ivanova P, Brown HA, Toth DJ, Varnai P, Kim YJ, Balla T
Proceedings of the National Academy of Sciences of the United States of America113(16)4314-9(2016 Apr)

RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Soueid J, Kourtian S, Makhoul NJ, Makoukji J, Haddad S, Ghanem SS, Kobeissy F, Boustany RM
Scientific reports619088(2016 Jan)

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlov? M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE
Nature genetics46(1)70-6(2014 Jan)

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, Butte NF
PloS one7(12)e51954(2012)

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

PSS1 mutations not only affect cellular PS levels and distribution but also lead to a more complex imbalance in lipid homeostasis by disturbing PI4P metabolism.
Title: Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.

RYR2, PTDSS1 and AREG are autism susceptibility genes that are implicated in a Lebanese population-based study of copy number variations in this disease.
Title: RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.

Gain-of-function missense mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Title: Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Purification and characterization of human phosphatidylserine synthases 1 and 2.
Title: Purification and characterization of human phosphatidylserine synthases 1 and 2.

The following PTDSS1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PTDSS1 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)
OHu12833	NM_001290225.2 Latest version!	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$99.50-$139.30 $199.00
OHu24139	NM_014754.3 Latest version!	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$189.50-$265.30 $379.00
View Old Accession Versions >>
OHu12833	NM_001290225.1	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$99.50-$139.30 $199.00
OHu24139	NM_014754.2	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$189.50-$265.30 $379.00
Hide Old Accession Versions >>

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***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

PTDSS1 ( NM_001290225.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001277154.1 Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu12833
Clone ID Related Accession (Same CDS sequence)	NM_001290225.1 , NM_001290225.2
Accession Version	NM_001290225.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 984bp) 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	2019-03-03
Organism	Homo sapiens(human)
Product	phosphatidylserine synthase 1 isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY087183.1, BC002376.2 and BM459031.1. Transcript Variant: This variant (2) lacks two consecutive alternate exons compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC002376.2, SRR1803615.174207.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2162328, SAMEA2162823 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGAGTATG CTGTGAACTG CCATGTGATC ACCTGGGAGA GGATTATCAG CCACTTTGAT 
ATTTTTGCAT TTGGACATTT CTGGGGCTGG GCCATGAAGG CCTTGCTGAT CCGTAGTTAC 
GGTCTCTGCT GGACAATCAG TATTACCTGG GAGCTGACTG AGCTCTTCTT CATGCATCTC 
CTCCCCAATT TTGCCGAGTG CTGGTGGGAT CAAGTCATTC TGGACATCCT GTTGTGCAAT 
GGCGGTGGCA TTTGGCTGGG CATGGTCGTT TGCCGGTTTT TAGAGATGAG GACTTACCAC 
TGGGCAAGCT TCAAGGACAT TCATACCACC ACCGGGAAGA TCAAGAGAGC TGTTCTGCAG 
TTCACTCCTG CTAGCTGGAC CTATGTTCGA TGGTTTGACC CCAAATCTTC TTTTCAGAGA 
GTAGCTGGAG TGTACCTTTT CATGATCATC TGGCAGCTGA CTGAGTTGAA TACCTTCTTC 
TTGAAGCATA TCTTTGTGTT CCAAGCCAGT CATCCATTAA GTTGGGGTAG AATTCTCTTT 
ATTGGTGGCA TCACAGCTCC CACAGTGAGA CAGTACTACG CTTACCTCAC CGACACACAG 
TGCAAGCGCG TAGGAACACA ATGCTGGGTG TTTGGGGTCA TTGGTTTCCT GGAGGCCATT 
GTTTGCATAA AATTTGGACA AGATCTCTTC TCTAAGACCC AAATACTCTA TGTTGTGCTT 
TGGCTTCTTT GCGTGGCTTT CACCACTTTC CTCTGTCTGT ACGGCATGAT TTGGTATGCA 
GAACACTATG GTCACCGAGA AAAGACCTAC TCGGAGTGTG AAGATGGCAC CTACAGTCCA 
GAGATCTCCT GGCATCACAG GAAAGGGACA AAAGGTTCTG AAGACAGCCC ACCCAAGCAT 
GCAGGCAACA ACGAAAGCCA TTCTTCCAGG AGAAGGAATC GGCATTCCAA GTCAAAAGTC 
ACCAATGGCG TTGGAAAGAA ATGA

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

RefSeq	NP_001277154.1
CDS	424..1407
Translation	MEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK

Target ORF information:

RefSeq Version	NM_001290225.1
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 2, mRNA.

Target ORF information:

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

NM_001290225.1

ORF Insert Sequence:

ATGGAGTATG CTGTGAACTG CCATGTGATC ACCTGGGAGA GGATTATCAG CCACTTTGAT 
ATTTTTGCAT TTGGACATTT CTGGGGCTGG GCCATGAAGG CCTTGCTGAT CCGTAGTTAC 
GGTCTCTGCT GGACAATCAG TATTACCTGG GAGCTGACTG AGCTCTTCTT CATGCATCTC 
CTCCCCAATT TTGCCGAGTG CTGGTGGGAT CAAGTCATTC TGGACATCCT GTTGTGCAAT 
GGCGGTGGCA TTTGGCTGGG CATGGTCGTT TGCCGGTTTT TAGAGATGAG GACTTACCAC 
TGGGCAAGCT TCAAGGACAT TCATACCACC ACCGGGAAGA TCAAGAGAGC TGTTCTGCAG 
TTCACTCCTG CTAGCTGGAC CTATGTTCGA TGGTTTGACC CCAAATCTTC TTTTCAGAGA 
GTAGCTGGAG TGTACCTTTT CATGATCATC TGGCAGCTGA CTGAGTTGAA TACCTTCTTC 
TTGAAGCATA TCTTTGTGTT CCAAGCCAGT CATCCATTAA GTTGGGGTAG AATTCTCTTT 
ATTGGTGGCA TCACAGCTCC CACAGTGAGA CAGTACTACG CTTACCTCAC CGACACACAG 
TGCAAGCGCG TAGGAACACA ATGCTGGGTG TTTGGGGTCA TTGGTTTCCT GGAGGCCATT 
GTTTGCATAA AATTTGGACA AGATCTCTTC TCTAAGACCC AAATACTCTA TGTTGTGCTT 
TGGCTTCTTT GCGTGGCTTT CACCACTTTC CTCTGTCTGT ACGGCATGAT TTGGTATGCA 
GAACACTATG GTCACCGAGA AAAGACCTAC TCGGAGTGTG AAGATGGCAC CTACAGTCCA 
GAGATCTCCT GGCATCACAG GAAAGGGACA AAAGGTTCTG AAGACAGCCC ACCCAAGCAT 
GCAGGCAACA ACGAAAGCCA TTCTTCCAGG AGAAGGAATC GGCATTCCAA GTCAAAAGTC 
ACCAATGGCG TTGGAAAGAA ATGA

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

PTDSS1 ( NM_001290225.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001277154.1 Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu12833
Clone ID Related Accession (Same CDS sequence)	NM_001290225.1 , NM_001290225.2
Accession Version	NM_001290225.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 984bp) 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	2019-05-30
Organism	Homo sapiens(human)
Product	phosphatidylserine synthase 1 isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY087183.1, BC002376.2, BM459031.1 and AP003465.2. On May 31, 2019 this sequence version replaced NM_001290225.1. Transcript Variant: This variant (2) lacks two consecutive alternate exons compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC002376.2, SRR1803615.174207.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2162328, SAMEA2162823 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGAGTATG CTGTGAACTG CCATGTGATC ACCTGGGAGA GGATTATCAG CCACTTTGAT 
ATTTTTGCAT TTGGACATTT CTGGGGCTGG GCCATGAAGG CCTTGCTGAT CCGTAGTTAC 
GGTCTCTGCT GGACAATCAG TATTACCTGG GAGCTGACTG AGCTCTTCTT CATGCATCTC 
CTCCCCAATT TTGCCGAGTG CTGGTGGGAT CAAGTCATTC TGGACATCCT GTTGTGCAAT 
GGCGGTGGCA TTTGGCTGGG CATGGTCGTT TGCCGGTTTT TAGAGATGAG GACTTACCAC 
TGGGCAAGCT TCAAGGACAT TCATACCACC ACCGGGAAGA TCAAGAGAGC TGTTCTGCAG 
TTCACTCCTG CTAGCTGGAC CTATGTTCGA TGGTTTGACC CCAAATCTTC TTTTCAGAGA 
GTAGCTGGAG TGTACCTTTT CATGATCATC TGGCAGCTGA CTGAGTTGAA TACCTTCTTC 
TTGAAGCATA TCTTTGTGTT CCAAGCCAGT CATCCATTAA GTTGGGGTAG AATTCTCTTT 
ATTGGTGGCA TCACAGCTCC CACAGTGAGA CAGTACTACG CTTACCTCAC CGACACACAG 
TGCAAGCGCG TAGGAACACA ATGCTGGGTG TTTGGGGTCA TTGGTTTCCT GGAGGCCATT 
GTTTGCATAA AATTTGGACA AGATCTCTTC TCTAAGACCC AAATACTCTA TGTTGTGCTT 
TGGCTTCTTT GCGTGGCTTT CACCACTTTC CTCTGTCTGT ACGGCATGAT TTGGTATGCA 
GAACACTATG GTCACCGAGA AAAGACCTAC TCGGAGTGTG AAGATGGCAC CTACAGTCCA 
GAGATCTCCT GGCATCACAG GAAAGGGACA AAAGGTTCTG AAGACAGCCC ACCCAAGCAT 
GCAGGCAACA ACGAAAGCCA TTCTTCCAGG AGAAGGAATC GGCATTCCAA GTCAAAAGTC 
ACCAATGGCG TTGGAAAGAA ATGA

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

RefSeq	NP_001277154.1
CDS	408..1391
Translation	MEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK

Target ORF information:

RefSeq Version	NM_001290225.2
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 2, mRNA.

Target ORF information:

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

NM_001290225.2

ORF Insert Sequence:

ATGGAGTATG CTGTGAACTG CCATGTGATC ACCTGGGAGA GGATTATCAG CCACTTTGAT 
ATTTTTGCAT TTGGACATTT CTGGGGCTGG GCCATGAAGG CCTTGCTGAT CCGTAGTTAC 
GGTCTCTGCT GGACAATCAG TATTACCTGG GAGCTGACTG AGCTCTTCTT CATGCATCTC 
CTCCCCAATT TTGCCGAGTG CTGGTGGGAT CAAGTCATTC TGGACATCCT GTTGTGCAAT 
GGCGGTGGCA TTTGGCTGGG CATGGTCGTT TGCCGGTTTT TAGAGATGAG GACTTACCAC 
TGGGCAAGCT TCAAGGACAT TCATACCACC ACCGGGAAGA TCAAGAGAGC TGTTCTGCAG 
TTCACTCCTG CTAGCTGGAC CTATGTTCGA TGGTTTGACC CCAAATCTTC TTTTCAGAGA 
GTAGCTGGAG TGTACCTTTT CATGATCATC TGGCAGCTGA CTGAGTTGAA TACCTTCTTC 
TTGAAGCATA TCTTTGTGTT CCAAGCCAGT CATCCATTAA GTTGGGGTAG AATTCTCTTT 
ATTGGTGGCA TCACAGCTCC CACAGTGAGA CAGTACTACG CTTACCTCAC CGACACACAG 
TGCAAGCGCG TAGGAACACA ATGCTGGGTG TTTGGGGTCA TTGGTTTCCT GGAGGCCATT 
GTTTGCATAA AATTTGGACA AGATCTCTTC TCTAAGACCC AAATACTCTA TGTTGTGCTT 
TGGCTTCTTT GCGTGGCTTT CACCACTTTC CTCTGTCTGT ACGGCATGAT TTGGTATGCA 
GAACACTATG GTCACCGAGA AAAGACCTAC TCGGAGTGTG AAGATGGCAC CTACAGTCCA 
GAGATCTCCT GGCATCACAG GAAAGGGACA AAAGGTTCTG AAGACAGCCC ACCCAAGCAT 
GCAGGCAACA ACGAAAGCCA TTCTTCCAGG AGAAGGAATC GGCATTCCAA GTCAAAAGTC 
ACCAATGGCG TTGGAAAGAA ATGA

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

PTDSS1 ( NM_014754.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_055569.1 Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu24139
Clone ID Related Accession (Same CDS sequence)	NM_014754.2 , NM_014754.3
Accession Version	NM_014754.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1422bp) 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	2019-03-03
Organism	Homo sapiens(human)
Product	phosphatidylserine synthase 1 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY087183.1, BC004192.2 and BM459031.1. This sequence is a reference standard in the RefSeqGene project. On Mar 4, 2014 this sequence version replaced NM_014754.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: SRR1803616.184540.1, SRR1803613.113420.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCGTCCT GCGTGGGGAG CCGGACCCTA AGCAAGGATG ATGTGAACTA CAAAATGCAT 
TTCCGGATGA TCAACGAGCA GCAAGTGGAG GACATCACCA TTGACTTCTT CTACCGGCCG 
CATACCATCA CCCTGCTCAG CTTCACCATC GTCAGCCTCA TGTACTTCGC CTTTACCAGG 
GATGACTCTG TTCCAGAAGA CAACATCTGG AGAGGCATCC TCTCTGTTAT TTTCTTCTTT 
CTTATCATCA GTGTGTTAGC TTTCCCCAAT GGTCCGTTCA CTCGACCTCA TCCAGCCTTA 
TGGCGAATGG TTTTTGGACT CAGTGTGCTC TACTTCCTGT TCCTGGTATT CCTACTCTTC 
CTGAATTTCG AGCAGGTTAA ATCTCTAATG TATTGGCTAG ATCCAAATCT TCGATACGCC 
ACAAGGGAAG CAGATGTCAT GGAGTATGCT GTGAACTGCC ATGTGATCAC CTGGGAGAGG 
ATTATCAGCC ACTTTGATAT TTTTGCATTT GGACATTTCT GGGGCTGGGC CATGAAGGCC 
TTGCTGATCC GTAGTTACGG TCTCTGCTGG ACAATCAGTA TTACCTGGGA GCTGACTGAG 
CTCTTCTTCA TGCATCTCCT CCCCAATTTT GCCGAGTGCT GGTGGGATCA AGTCATTCTG 
GACATCCTGT TGTGCAATGG CGGTGGCATT TGGCTGGGCA TGGTCGTTTG CCGGTTTTTA 
GAGATGAGGA CTTACCACTG GGCAAGCTTC AAGGACATTC ATACCACCAC CGGGAAGATC 
AAGAGAGCTG TTCTGCAGTT CACTCCTGCT AGCTGGACCT ATGTTCGATG GTTTGACCCC 
AAATCTTCTT TTCAGAGAGT AGCTGGAGTG TACCTTTTCA TGATCATCTG GCAGCTGACT 
GAGTTGAATA CCTTCTTCTT GAAGCATATC TTTGTGTTCC AAGCCAGTCA TCCATTAAGT 
TGGGGTAGAA TTCTCTTTAT TGGTGGCATC ACAGCTCCCA CAGTGAGACA GTACTACGCT 
TACCTCACCG ACACACAGTG CAAGCGCGTA GGAACACAAT GCTGGGTGTT TGGGGTCATT 
GGTTTCCTGG AGGCCATTGT TTGCATAAAA TTTGGACAAG ATCTCTTCTC TAAGACCCAA 
ATACTCTATG TTGTGCTTTG GCTTCTTTGC GTGGCTTTCA CCACTTTCCT CTGTCTGTAC 
GGCATGATTT GGTATGCAGA ACACTATGGT CACCGAGAAA AGACCTACTC GGAGTGTGAA 
GATGGCACCT ACAGTCCAGA GATCTCCTGG CATCACAGGA AAGGGACAAA AGGTTCTGAA 
GACAGCCCAC CCAAGCATGC AGGCAACAAC GAAAGCCATT CTTCCAGGAG AAGGAATCGG 
CATTCCAAGT CAAAAGTCAC CAATGGCGTT GGAAAGAAAT GA

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

RefSeq	NP_055569.1
CDS	156..1577
Translation	MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK

Target ORF information:

RefSeq Version	NM_014754.2
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 1, mRNA.

Target ORF information:

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

NM_014754.2

ORF Insert Sequence:

ATGGCGTCCT GCGTGGGGAG CCGGACCCTA AGCAAGGATG ATGTGAACTA CAAAATGCAT 
TTCCGGATGA TCAACGAGCA GCAAGTGGAG GACATCACCA TTGACTTCTT CTACCGGCCG 
CATACCATCA CCCTGCTCAG CTTCACCATC GTCAGCCTCA TGTACTTCGC CTTTACCAGG 
GATGACTCTG TTCCAGAAGA CAACATCTGG AGAGGCATCC TCTCTGTTAT TTTCTTCTTT 
CTTATCATCA GTGTGTTAGC TTTCCCCAAT GGTCCGTTCA CTCGACCTCA TCCAGCCTTA 
TGGCGAATGG TTTTTGGACT CAGTGTGCTC TACTTCCTGT TCCTGGTATT CCTACTCTTC 
CTGAATTTCG AGCAGGTTAA ATCTCTAATG TATTGGCTAG ATCCAAATCT TCGATACGCC 
ACAAGGGAAG CAGATGTCAT GGAGTATGCT GTGAACTGCC ATGTGATCAC CTGGGAGAGG 
ATTATCAGCC ACTTTGATAT TTTTGCATTT GGACATTTCT GGGGCTGGGC CATGAAGGCC 
TTGCTGATCC GTAGTTACGG TCTCTGCTGG ACAATCAGTA TTACCTGGGA GCTGACTGAG 
CTCTTCTTCA TGCATCTCCT CCCCAATTTT GCCGAGTGCT GGTGGGATCA AGTCATTCTG 
GACATCCTGT TGTGCAATGG CGGTGGCATT TGGCTGGGCA TGGTCGTTTG CCGGTTTTTA 
GAGATGAGGA CTTACCACTG GGCAAGCTTC AAGGACATTC ATACCACCAC CGGGAAGATC 
AAGAGAGCTG TTCTGCAGTT CACTCCTGCT AGCTGGACCT ATGTTCGATG GTTTGACCCC 
AAATCTTCTT TTCAGAGAGT AGCTGGAGTG TACCTTTTCA TGATCATCTG GCAGCTGACT 
GAGTTGAATA CCTTCTTCTT GAAGCATATC TTTGTGTTCC AAGCCAGTCA TCCATTAAGT 
TGGGGTAGAA TTCTCTTTAT TGGTGGCATC ACAGCTCCCA CAGTGAGACA GTACTACGCT 
TACCTCACCG ACACACAGTG CAAGCGCGTA GGAACACAAT GCTGGGTGTT TGGGGTCATT 
GGTTTCCTGG AGGCCATTGT TTGCATAAAA TTTGGACAAG ATCTCTTCTC TAAGACCCAA 
ATACTCTATG TTGTGCTTTG GCTTCTTTGC GTGGCTTTCA CCACTTTCCT CTGTCTGTAC 
GGCATGATTT GGTATGCAGA ACACTATGGT CACCGAGAAA AGACCTACTC GGAGTGTGAA 
GATGGCACCT ACAGTCCAGA GATCTCCTGG CATCACAGGA AAGGGACAAA AGGTTCTGAA 
GACAGCCCAC CCAAGCATGC AGGCAACAAC GAAAGCCATT CTTCCAGGAG AAGGAATCGG 
CATTCCAAGT CAAAAGTCAC CAATGGCGTT GGAAAGAAAT GA

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

PTDSS1 ( NM_014754.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_055569.1 Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 1, mRNA.

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CloneID	OHu24139
Clone ID Related Accession (Same CDS sequence)	NM_014754.2 , NM_014754.3
Accession Version	NM_014754.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1422bp) 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	2019-10-24
Organism	Homo sapiens(human)
Product	phosphatidylserine synthase 1 isoform 1
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY087183.1, BC004192.2, BM459031.1 and AP003465.2. On May 17, 2019 this sequence version replaced NM_014754.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: SRR1803616.18983.1, SRR1803612.243335.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000517309.6/ ENSP00000430548.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCGTCCT GCGTGGGGAG CCGGACCCTA AGCAAGGATG ATGTGAACTA CAAAATGCAT 
TTCCGGATGA TCAACGAGCA GCAAGTGGAG GACATCACCA TTGACTTCTT CTACCGGCCG 
CATACCATCA CCCTGCTCAG CTTCACCATC GTCAGCCTCA TGTACTTCGC CTTTACCAGG 
GATGACTCTG TTCCAGAAGA CAACATCTGG AGAGGCATCC TCTCTGTTAT TTTCTTCTTT 
CTTATCATCA GTGTGTTAGC TTTCCCCAAT GGTCCGTTCA CTCGACCTCA TCCAGCCTTA 
TGGCGAATGG TTTTTGGACT CAGTGTGCTC TACTTCCTGT TCCTGGTATT CCTACTCTTC 
CTGAATTTCG AGCAGGTTAA ATCTCTAATG TATTGGCTAG ATCCAAATCT TCGATACGCC 
ACAAGGGAAG CAGATGTCAT GGAGTATGCT GTGAACTGCC ATGTGATCAC CTGGGAGAGG 
ATTATCAGCC ACTTTGATAT TTTTGCATTT GGACATTTCT GGGGCTGGGC CATGAAGGCC 
TTGCTGATCC GTAGTTACGG TCTCTGCTGG ACAATCAGTA TTACCTGGGA GCTGACTGAG 
CTCTTCTTCA TGCATCTCCT CCCCAATTTT GCCGAGTGCT GGTGGGATCA AGTCATTCTG 
GACATCCTGT TGTGCAATGG CGGTGGCATT TGGCTGGGCA TGGTCGTTTG CCGGTTTTTA 
GAGATGAGGA CTTACCACTG GGCAAGCTTC AAGGACATTC ATACCACCAC CGGGAAGATC 
AAGAGAGCTG TTCTGCAGTT CACTCCTGCT AGCTGGACCT ATGTTCGATG GTTTGACCCC 
AAATCTTCTT TTCAGAGAGT AGCTGGAGTG TACCTTTTCA TGATCATCTG GCAGCTGACT 
GAGTTGAATA CCTTCTTCTT GAAGCATATC TTTGTGTTCC AAGCCAGTCA TCCATTAAGT 
TGGGGTAGAA TTCTCTTTAT TGGTGGCATC ACAGCTCCCA CAGTGAGACA GTACTACGCT 
TACCTCACCG ACACACAGTG CAAGCGCGTA GGAACACAAT GCTGGGTGTT TGGGGTCATT 
GGTTTCCTGG AGGCCATTGT TTGCATAAAA TTTGGACAAG ATCTCTTCTC TAAGACCCAA 
ATACTCTATG TTGTGCTTTG GCTTCTTTGC GTGGCTTTCA CCACTTTCCT CTGTCTGTAC 
GGCATGATTT GGTATGCAGA ACACTATGGT CACCGAGAAA AGACCTACTC GGAGTGTGAA 
GATGGCACCT ACAGTCCAGA GATCTCCTGG CATCACAGGA AAGGGACAAA AGGTTCTGAA 
GACAGCCCAC CCAAGCATGC AGGCAACAAC GAAAGCCATT CTTCCAGGAG AAGGAATCGG 
CATTCCAAGT CAAAAGTCAC CAATGGCGTT GGAAAGAAAT GA

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

RefSeq	NP_055569.1
CDS	140..1561
Translation	MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTRDDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLFLNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKALLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFLEMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLTELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVIGFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECEDGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK

Target ORF information:

RefSeq Version	NM_014754.3
Organism	Homo sapiens(human)
Definition	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), transcript variant 1, mRNA.

Target ORF information:

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

NM_014754.3

ORF Insert Sequence:

ATGGCGTCCT GCGTGGGGAG CCGGACCCTA AGCAAGGATG ATGTGAACTA CAAAATGCAT 
TTCCGGATGA TCAACGAGCA GCAAGTGGAG GACATCACCA TTGACTTCTT CTACCGGCCG 
CATACCATCA CCCTGCTCAG CTTCACCATC GTCAGCCTCA TGTACTTCGC CTTTACCAGG 
GATGACTCTG TTCCAGAAGA CAACATCTGG AGAGGCATCC TCTCTGTTAT TTTCTTCTTT 
CTTATCATCA GTGTGTTAGC TTTCCCCAAT GGTCCGTTCA CTCGACCTCA TCCAGCCTTA 
TGGCGAATGG TTTTTGGACT CAGTGTGCTC TACTTCCTGT TCCTGGTATT CCTACTCTTC 
CTGAATTTCG AGCAGGTTAA ATCTCTAATG TATTGGCTAG ATCCAAATCT TCGATACGCC 
ACAAGGGAAG CAGATGTCAT GGAGTATGCT GTGAACTGCC ATGTGATCAC CTGGGAGAGG 
ATTATCAGCC ACTTTGATAT TTTTGCATTT GGACATTTCT GGGGCTGGGC CATGAAGGCC 
TTGCTGATCC GTAGTTACGG TCTCTGCTGG ACAATCAGTA TTACCTGGGA GCTGACTGAG 
CTCTTCTTCA TGCATCTCCT CCCCAATTTT GCCGAGTGCT GGTGGGATCA AGTCATTCTG 
GACATCCTGT TGTGCAATGG CGGTGGCATT TGGCTGGGCA TGGTCGTTTG CCGGTTTTTA 
GAGATGAGGA CTTACCACTG GGCAAGCTTC AAGGACATTC ATACCACCAC CGGGAAGATC 
AAGAGAGCTG TTCTGCAGTT CACTCCTGCT AGCTGGACCT ATGTTCGATG GTTTGACCCC 
AAATCTTCTT TTCAGAGAGT AGCTGGAGTG TACCTTTTCA TGATCATCTG GCAGCTGACT 
GAGTTGAATA CCTTCTTCTT GAAGCATATC TTTGTGTTCC AAGCCAGTCA TCCATTAAGT 
TGGGGTAGAA TTCTCTTTAT TGGTGGCATC ACAGCTCCCA CAGTGAGACA GTACTACGCT 
TACCTCACCG ACACACAGTG CAAGCGCGTA GGAACACAAT GCTGGGTGTT TGGGGTCATT 
GGTTTCCTGG AGGCCATTGT TTGCATAAAA TTTGGACAAG ATCTCTTCTC TAAGACCCAA 
ATACTCTATG TTGTGCTTTG GCTTCTTTGC GTGGCTTTCA CCACTTTCCT CTGTCTGTAC 
GGCATGATTT GGTATGCAGA ACACTATGGT CACCGAGAAA AGACCTACTC GGAGTGTGAA 
GATGGCACCT ACAGTCCAGA GATCTCCTGG CATCACAGGA AAGGGACAAA AGGTTCTGAA 
GACAGCCCAC CCAAGCATGC AGGCAACAAC GAAAGCCATT CTTCCAGGAG AAGGAATCGG 
CATTCCAAGT CAAAAGTCAC CAATGGCGTT GGAAAGAAAT GA

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

PubMed

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
American journal of medical genetics. Part A(2018 Jan)
Piard J,Lespinasse J,Vlckova M,Mensah MA,Iurian S,Simandlova M,Malikova M,Bartsch O,Rossi M,Lenoir M,Nugues F,Mundlos S,Kornak U,Stanier P,Sousa SB,Van Maldergem L

Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
Proceedings of the National Academy of Sciences of the United States of America113(16)4314-9(2016 Apr)
Sohn M,Ivanova P,Brown HA,Toth DJ,Varnai P,Kim YJ,Balla T

RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Scientific reports619088(2016 Jan)
Soueid J,Kourtian S,Makhoul NJ,Makoukji J,Haddad S,Ghanem SS,Kobeissy F,Boustany RM

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Nature genetics46(1)70-6(2014 Jan)
Sousa SB,Jenkins D,Chanudet E,Tasseva G,Ishida M,Anderson G,Docker J,Ryten M,Sa J,Saraiva JM,Barnicoat A,Scott R,Calder A,Wattanasirichaigoon D,Chrzanowska K,Simandlov? M,Van Maldergem L,Stanier P,Beales PL,Vance JE,Moore GE

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
PloS one7(12)e51954(2012)
Comuzzie AG,Cole SA,Laston SL,Voruganti VS,Haack K,Gibbs RA,Butte NF

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PTDSS1 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:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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