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CEPT1 Gene

protein-coding   GIFtS: 47

GC01P111394
choline/ethanolamine phosphotransferase 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp313G0615 2
EC 2.7.8.1,EC 2.7.8.2 3
MGC45223 2
OTTHUMP00000014300 2
choline/ethanolaminephosphotransferase 2
hCEPT1 3
Descriptions
choline/ethanolamine phosphotransferase 1 2
External Ids
HGNC: 242891
Entrez Gene: 103902
UniProtKB: Q9Y6K03
Ensembl: ENSG000001342557
Search outside databases for aliases for CEPT1 gene

Previous GC identifers: GC01P112099 GC01P110554 GC01P110784 GC01P110981

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for CEPT1:
Cholinephosphotransferase catalyses the final step in the synthesis of phosphatidylcholine by the
transfer of phosphocholine from CDP-choline to diacylglycerol. The synthesis of
phosphatidylethanolamine by ethanolaminephosphotransferase occurs using an analogous reaction.
This gene codes for a choline/ethanolaminephosphotransferase. The protein can synthesize either
choline- or ethanolamine- containing phospholipids. Two alternatively spliced transcripts encoding
the same isoform have been identified. [provided by RefSeq]

UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
Function: Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from
CDP-choline and CDP-ethanolamine, respectively. Involved in protein-dependent process of
phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher
cholinephosphotransferase activity than ethanolaminephosphotransferase activity

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CEPT1 gene  

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13

CEPT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P111394:     (about GC identifiers)

Start:
111,483,772 bp from pter
End:
111,529,247 bp from pter
Size:
45,476 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_019273.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0 (See protein sequence)
Recommended Name: Choline/ethanolaminephosphotransferase 1  
Size: 416 amino acids; 46554 Da
Cofactor: Magnesium or manganese
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus
membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAF61194.1; Type=Frameshift; Positions=276;
Secondary accessions: Q69YJ9 Q9P0Y8

REFSEQ proteins (2 alternative transcripts): 
NP_001007795.1  NP_006081.1  


ENSEMBL proteins: 
ENSP00000317400 ENSP00000349696 


Human Recombinant Proteins 
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Browse Purified and Recombinant Proteins at Millipore
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane TAS10191259
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Antibodies for CEPT1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for CEPT1

Assays for CEPT1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR014472 CHOPT
 IPR000462 CDP-OH_P_trans


   GeneDecks  CEPT1 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9Y6K0

ProtoNet protein and cluster: Q9Y6K0

1 Blocks protein family: IPB000462 CDP-alcohol phosphatidyltransferase

UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
Similarity: Belongs to the CDP-alcohol phosphatidyltransferase class-I family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (CEPT1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006090

              Applied Biosystems Silencer® siRNAs for CEPT1

              Sigma-Aldrich siRNA for CEPT1  
                     Sigma-Aldrich shRNA for CEPT1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001007794
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001007794
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001007794 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_006090

UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
Function: Catalyzes both phosphatidylcholine and phosphatidylethanolamine biosynthesis from
CDP-choline and CDP-ethanolamine, respectively. Involved in protein-dependent process of
phospholipid transport to distribute phosphatidyl choline to the lumenal surface. Has a higher
cholinephosphotransferase activity than ethanolaminephosphotransferase activity
Catalytic activity: CDP-ethanolamine + 1,2-diacylglycerol = CMP + a phosphatidylethanolamine
Catalytic activity: CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine
Biophysicochemical properties: Kinetic parameters: KM=37 uM for CDP-choline; KM=101 uM for
CDP-ethanolamine; Vmax=10.5 nmol/min/mg enzyme with CDP-choline as substrate; Vmax=4.35
nmol/min/mg enzyme with CDP-ethanolamine as substrate;
Enzyme Number (IUBMB): EC 2.7.8.1,EC 

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000287 magnesium ion binding IEA--
GO:0004142 diacylglycerol cholinephosphotransferase activity IEA--
GO:0004307 ethanolaminephosphotransferase activity TAS10191259
GO:0016740 transferase activity IEA--
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for  CEPT1  (Your Favorite Gene powered by Ingenuity) 
 Aminophosphonate Metabolism
 Glycerophospholipid Metabolism

   GeneDecks  CEPT1 for the pathways selected above  
About GeneDecksing

UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine
from ethanolamine: step 3/3
Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from
phosphocholine: step 2/2


5/6 Interacting proteins for CEPT1 (ENSP000003496963) via UniProtKB, MINT, and/or STRING (see all 6 )

InteractantInteraction Details
GeneCardExternal ID(s)
PCYT2ENSP000003317193STRING (score=.899)
PLD1ENSP000003427933STRING (score=.899)
PLD2ENSP000002630883STRING (score=.899)
PPAP2AENSP000002647753STRING (score=.899)
PPAP2BENSP000003602963STRING (score=.899)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006629 lipid metabolic process TAS10191259
GO:0008654 phospholipid biosynthetic process IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CEPT1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (CEPT1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_006090

              Sigma-Aldrich siRNA for CEPT1  
                     Sigma-Aldrich shRNA for CEPT1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001007794  NM_006090  

REFSEQ mRNAs for CEPT1 gene (2 alternative transcripts): 

NM_001007794.1   NM_006090.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001007794  NM_006090  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001007794
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001007794
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001007794 

Additional cDNA sequence: 

AF068302.1 AF138862.1 AK023381.1 AK095229.1 AL832104.1 AL833102.1 BC032610.2 BC049196.1 
CR602494.1 CR612795.1 CR616896.1 

17 DOTS entries:

DT.97845084  DT.100883777  DT.92447464  DT.92447452  DT.100883776  DT.95155123  DT.409117  DT.99993833 
DT.100883787  DT.303074  DT.100645212  DT.121409329  DT.121409374  DT.121409405  DT.100691333  DT.121409417 
DT.95253585 

24/149 AceView cDNA sequences (see all 149 ):

BM454379 CR616896 CR612795 AU279838 BP352760 BX955824 AW615294 CR602494 
AL699596 BF085819 BX346364 AA707227 BC049196 BX479672 AI114518 CF994854 
CB990833 CA454329 BP344387 AL833102 BM849733 AL832104 BC032610 NM_006090 

highest scoring ESTs for CEPT1:

N31533 N32019 AA953486 AF068302 AF138862 AI274844 AI635981 AI864977 AK023381 AL537810 

Unigene Cluster for CEPT1:

Choline/ethanolamine phosphotransferase 1
Hs.363572  [show with all ESTs]
Unigene Representative Sequence: AL832104


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for CEPT1

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9
SP1:                                      -           -                       -         
SP2:                                                                                    
SP3:        -                                                                           
SP4:                                                  -                                 
SP5:                                                                                    

About this scheme

ECgene alternative splicing isoforms for CEPT1

2 Ensembl transcripts including schematic representations:
ENST00000317584  ENST00000357172  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CEPT1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for CEPT1

1 / 2 / 3

5 probe-sets matching CEPT1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
84454_at2, 3 U95-E 1 1.00 1.00 0.89 1.24 N31533 1.00 1.00 1.00 1
57801_at2, 3 U95-B 1 1.00 1.00 0.83 1.22 N32019 1.00 1.00 1.00 1

90269_at2, 3 U95-D 1 0.69 1.00 0.46 0.56 AI038398 0.60 1.00 0.82 1

219375_at2, 3 U133-A 1 1.00 1.00 -- -- NM_006090 0.60 1.00 0.82 1

219375_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  CEPT1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.363572

UniProtKB/Swiss-Prot: CEPT1_HUMAN, Q9Y6K0
Tissue specificity: Ubiquitously expressed

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for CEPT1 gene from 5/17 species (see all 17 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
CEPT11   -- choline/ethanolamine phosphotransferase 1 92.55(n)
95.19(a)
612948  XM_860622.1  XP_865715.1 
chimpanzee
(Pan troglodytes)
CEPT11   -- choline/ethanolamine phosphotransferase 1 99.84(n)
100(a)
457116  XM_001161519.1  XP_001161519.1 
cow
(Bos taurus)
CEPT11   -- choline/ethanolamine phosphotransferase 1 91.43(n)
95.67(a)
504650  XM_882164.2  XP_887257.1 
rat
(Rattus norvegicus)
Cept11   -- choline/ethanolamine phosphotransferase 1 93.43(n)
98.8(a)
310773  NM_001007699.1  NP_001007700.1 
mouse
(Mus musculus)
Cept11, 5 35
choline/ethanolaminephosphotransferase 11, 5 93.83(n)1
98.56(a)1
997121  NM_133869.31  NP_598630.21 
 AA1538165  AA5293865  (see all 17)
About this table        Species with no ortholog for CEPT1

ENSEMBL Gene Tree for CEPT1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for CEPT1 gene
SELI2  CHPT12  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/178 NCBI SNPs in CEPT1 are shown (see all 178 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 94)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs124049861,2
C,F,H111528650(+) ATTGTA/CTATGT 2 -- ut31 ese34Minor allele frequency- C:0.01EU EA WA 418
rs115822831,2
H111529268(+) TCTTGT/GGACAT 2 -- ng314Minor allele frequency- G:0.00EU EA WA 416
rs37958231,2
A,C,F,H111528392(-) TGAGAC/TGCAAT 2 A/A syn1 ese312Minor allele frequency- N:0.00EU EA WA NA 1052
rs3259241,2
A,C,F,H,O111488907(-) CTTACG/AGAATT 2 -- int111Minor allele frequency- A:0.08EU EA WA NA 978
rs8175821,2
A,C,F,H,O111487577(+) GTAATT/CTTTTT 2 -- int111Minor allele frequency- C:0.26EU EA WA NA 976
rs6941801,2
A,C,F,H,O111527736(+) TGGTAG/AGTATT 2 -- int117Minor allele frequency- A:0.36NA EA MN NS EU WA 2602
rs6758741,2
A,C,F,H,O111522298(-) AATATC/ATTTTC 2 -- int1 trp39Minor allele frequency- A:0.11MN EU EA WA 929
rs22433931,2
A,C,F,H,O111527549(-) CTACAC/TAGTAA 2 -- int118Minor allele frequency- T:0.38EA NS NA EU WA 2584
rs3258861,2
A,C,F,H,O111520577(+) TATTAT/ATTTTA 2 -- int111Minor allele frequency- A:0.30EU EA WA NA 976
rs5869951,2
A,C,F,H,O111493963(-) TCCCCA/GTCCTA 2 -- int17Minor allele frequency- G:0.13NA EU EA WA 558
About this table

HapMap Linkage Disequilibrium images for CEPT1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

  --

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10 PubMed articles for CEPT1 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 10390 HGNC: 24289 AceView: CEPT1 Ensembl:ENSG00000134255 euGenes: HUgn10390
ECgene: CEPT1 H-InvDB: CEPT1
(According to HUGE)
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  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for CEPT1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for CEPT1-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for CEPT1 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for CEPT1 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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