Human Gene CDIPT (uc002dun.3)
  Description: Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), mRNA.
RefSeq Summary (NM_006319): Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013].
Transcript (Including UTRs)
   Position: hg19 chr16:29,869,678-29,874,578 Size: 4,901 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr16:29,870,510-29,874,178 Size: 3,669 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:29,869,678-29,874,578)mRNA (may differ from genome)Protein (168 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMalacardsMGIPubMedTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: H3BTV1_HUMAN
DESCRIPTION: SubName: Full=CDP-diacylglycerol--inositol 3-phosphatidyltransferase;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CDIPT
CDC HuGE Published Literature: CDIPT

-  MalaCards Disease Associations
  MalaCards Gene Search: CDIPT
Diseases sorted by gene-association score: epilepsy, familial temporal lobe, 2 (2), fibromuscular dysplasia (2), hemoglobin c disease (2), wilson-turner syndrome (2), byssinosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 77.31 RPKM in Brain - Cerebellum
Total median expression: 2009.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -199.90400-0.500 Picture PostScript Text
3' UTR -336.40832-0.404 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on H3BTV1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AL050383 - Homo sapiens mRNA; cDNA DKFZp564E0582 (from clone DKFZp564E0582).
BC001444 - Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase), mRNA (cDNA clone MGC:1328 IMAGE:3139134), complete cds.
LP895333 - Sequence 197 from Patent EP3253886.
AK094468 - Homo sapiens cDNA FLJ37149 fis, clone BRACE2025437, highly similar to CDP-diacylglycerol--inositol3-phosphatidyltransferase (EC 2.7.8.11).
AK131349 - Homo sapiens cDNA FLJ16371 fis, clone THYMU2040925, moderately similar to CDP-DIACYLGLYCEROL--INOSITOL 3-PHOSPHATIDYLTRANSFERASE (EC 2.7.8.11).
AK097691 - Homo sapiens cDNA FLJ40372 fis, clone TESTI2034940, highly similar to CDP-diacylglycerol--inositol3-phosphatidyltransferase (EC 2.7.8.11).
AF014807 - Homo sapiens phosphatidylinositol synthase (PIS) mRNA, complete cds.
AK131227 - Homo sapiens cDNA FLJ16129 fis, clone BRACE2039823, highly similar to CDP-diacylglycerol--inositol3-phosphatidyltransferase (EC 2.7.8.11).
JD417979 - Sequence 399003 from Patent EP1572962.
JD074471 - Sequence 55495 from Patent EP1572962.
JD330466 - Sequence 311490 from Patent EP1572962.
JD087636 - Sequence 68660 from Patent EP1572962.
AK222676 - Homo sapiens mRNA for CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 1 variant, clone: CBR02133.
JD564804 - Sequence 545828 from Patent EP1572962.
JD426620 - Sequence 407644 from Patent EP1572962.
JD463574 - Sequence 444598 from Patent EP1572962.
AK300805 - Homo sapiens cDNA FLJ54162 complete cds, moderately similar to CDP-diacylglycerol--inositol3-phosphatidyltransferase (EC 2.7.8.11).
AK290632 - Homo sapiens cDNA FLJ77674 complete cds, highly similar to Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) (CDIPT), transcript variant 1, mRNA.
JD111316 - Sequence 92340 from Patent EP1572962.
JD320379 - Sequence 301403 from Patent EP1572962.
JD387315 - Sequence 368339 from Patent EP1572962.
JD097591 - Sequence 78615 from Patent EP1572962.
JD232319 - Sequence 213343 from Patent EP1572962.
JD408350 - Sequence 389374 from Patent EP1572962.
JD518497 - Sequence 499521 from Patent EP1572962.
AK310988 - Homo sapiens cDNA, FLJ18030.
JD514202 - Sequence 495226 from Patent EP1572962.
JD481970 - Sequence 462994 from Patent EP1572962.
JD329481 - Sequence 310505 from Patent EP1572962.
KJ893031 - Synthetic construct Homo sapiens clone ccsbBroadEn_02425 CDIPT gene, encodes complete protein.
AK314544 - Homo sapiens cDNA, FLJ95366.
CU674708 - Synthetic construct Homo sapiens gateway clone IMAGE:100018029 5' read CDIPT mRNA.
BT007301 - Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) mRNA, complete cds.
CR542016 - Homo sapiens full open reading frame cDNA clone RZPDo834H0435D for gene CDIPT, CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase); complete cds, without stopcodon.
AB528560 - Synthetic construct DNA, clone: pF1KB5413, Homo sapiens CDIPT gene for CDP-diacylglycerol--inositol 3-phosphatidyltransferase, without stop codon, in Flexi system.
JD200573 - Sequence 181597 from Patent EP1572962.
JD474408 - Sequence 455432 from Patent EP1572962.
JD480107 - Sequence 461131 from Patent EP1572962.
JD538252 - Sequence 519276 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00562 - Inositol phosphate metabolism
hsa00564 - Glycerophospholipid metabolism
hsa01100 - Metabolic pathways
hsa04070 - Phosphatidylinositol signaling system

-  Other Names for This Gene
  Alternate Gene Symbols: AK300805, H3BTV1, H3BTV1_HUMAN
UCSC ID: uc002dun.3
RefSeq Accession: NM_006319
Protein: H3BTV1 CCDS: CCDS67002.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK300805.1
exon count: 5CDS single in 3' UTR: no RNA size: 1360
ORF size: 507CDS single in intron: no Alignment % ID: 99.71
txCdsPredict score: 1164.50frame shift in genome: no % Coverage: 99.93
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.