Human Gene CDIPT (uc002dul.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 chr16:29,869,678-29,874,349 Size: 4,672 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr16:29,870,510-29,874,000 Size: 3,491 Coding Exon Count: 5 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:29,869,678-29,874,349)mRNA (may differ from genome)Protein (185 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMalacardsMGIneXtProtPubMed
ReactomeTreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CDIPT_HUMAN
DESCRIPTION: RecName: Full=CDP-diacylglycerol--inositol 3-phosphatidyltransferase; EC=2.7.8.11; AltName: Full=Phosphatidylinositol synthase; Short=PI synthase; Short=PtdIns synthase;
FUNCTION: Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme.
CATALYTIC ACTIVITY: CDP-diacylglycerol + myo-inositol = CMP + phosphatidyl-1D-myo-inositol.
COFACTOR: Magnesium.
COFACTOR: Manganese.
ENZYME REGULATION: Inhibited by PtdIns (product inhibition), phosphatidylinositol phosphate, and nucleoside di- and tri- phosphates.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 9.0; Temperature dependence: Optimum temperature is 50 degrees Celsius;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Golgi apparatus membrane; Multi- pass membrane protein (By similarity). Cell membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Widely expressed. Higher expression in adult liver and skeletal muscle, slightly lower levels seen in pancreas, kidney, lung, placenta, brain, heart, leukocyte, colon, small intestine, ovary, testis, prostate, thymus and spleen. In fetus, expressed in kidney, liver, lung and brain.
SIMILARITY: Belongs to the CDP-alcohol phosphatidyltransferase class-I family.

-  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
  Press "+" in the title bar above to open this section.

-  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
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -165.00349-0.473 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
  InterPro Domains: Graphical view of domain structure
IPR000462 - CDP-OH_P_trans
IPR014387 - CDP_diag_ino_3_P_euk

Pfam Domains:
PF01066 - CDP-alcohol phosphatidyltransferase

ModBase Predicted Comparative 3D Structure on O14735
FrontTopSide
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    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003881 CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016780 phosphotransferase activity, for other substituted phosphate groups
GO:0019992 diacylglycerol binding
GO:0030145 manganese ion binding
GO:0030246 carbohydrate binding
GO:0043178 alcohol binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0008654 phospholipid biosynthetic process
GO:0046341 CDP-diacylglycerol metabolic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  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.

-  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

Reactome (by CSHL, EBI, and GO)

Protein O14735 (Reactome details) participates in the following event(s):

R-HSA-1482976 CDP-DAG is converted to PI by CDIPT
R-HSA-1483226 Synthesis of PI
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AK094468, CDIPT_HUMAN, O14735, PIS, PIS1, Q6FGU1, Q6ZN70
UCSC ID: uc002dul.3
RefSeq Accession: NM_006319
Protein: O14735 (aka CDIPT_HUMAN or PIS_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK094468.1
exon count: 5CDS single in 3' UTR: no RNA size: 1738
ORF size: 558CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1023.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 308# 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.