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    CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase [ Homo sapiens (human) ]

    Gene ID: 10423, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CDIPTprovided by HGNC
    Official Full Name
    CDP-diacylglycerol--inositol 3-phosphatidyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:1769
    See related
    Ensembl:ENSG00000103502 MIM:605893; AllianceGenome:HGNC:1769
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIS; PIS1
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 31.5), fat (RPKM 28.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDIPT in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29858357..29863226, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30140992..30145861, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29869678..29874547, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29826183-29826812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7340 Neighboring gene MVP divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29832188-29832754 Neighboring gene proline rich transmembrane protein 2 Neighboring gene PAXIP1 associated glutamate rich protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29836905-29837477 Neighboring gene major vault protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29856975-29857476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29857477-29857976 Neighboring gene Sharpr-MPRA regulatory region 13449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29871974-29872512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29874668-29875205 Neighboring gene CDIP transferase opposite strand, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:29889007-29889508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:29889509-29890008 Neighboring gene seizure related 6 homolog like 2 Neighboring gene Sharpr-MPRA regulatory region 6067

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Phosphatidylinositol synthase from mammalian tissues. Antonsson B. Biochim Biophys Acta, 1997 Sep 4. PMID 9370331
    2. Clinical significance of phosphatidyl inositol synthase overexpression in oral cancer. Kaur J, et al. BMC Cancer, 2010 Apr 28. PMID 20426864, Free PMC Article
    3. Purification and characterization of phosphatidylinositol synthase from human placenta. Antonsson BE. Biochem J, 1994 Feb 1. PMID 8110188, Free PMC Article
    4. Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles. de Serres FJ, et al. Monaldi Arch Chest Dis, 2005 Sep. PMID 16312203
    5. The role of CDP-diacylglycerol synthetase and phosphatidylinositol synthase activity levels in the regulation of cellular phosphatidylinositol content. Lykidis A, et al. J Biol Chem, 1997 Dec 26. PMID 9407135

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Increased CDIPT expression was found to be an early event in oral cancer and a target for smokeless tobacco.
      Title: Clinical significance of phosphatidyl inositol synthase overexpression in oral cancer.
    4. AAT Deficiency affects at least 120.5 million carriers and deficient subjects worldwide for the two most prevalent deficiency alleles PIZ.
      Title: Alpha-1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1328

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in phosphatidylinositol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylinositol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    CDP-diacylglycerol--inositol 3-phosphatidyltransferase
    Names
    PI synthase
    PtdIns synthase
    phosphatidylinositol synthase
    NP_001273514.1
    NP_001273515.1
    NP_006310.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286585.2 → NP_001273514.1  CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AI696848, AK097691, AK300805
      Consensus CDS
      CCDS67002.1
      UniProtKB/TrEMBL
      B3KSW0
      Related
      ENSP00000457340.1, ENST00000566113.5

    2. NM_001286586.2 → NP_001273515.1  CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 3

      See identical proteins and their annotated locations for NP_001273515.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of an exon and initiates translation at a downstream AUG compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AI696848, AK097691, BX333193
      UniProtKB/TrEMBL
      B3KSW0

    3. NM_006319.5 → NP_006310.1  CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 1

      See identical proteins and their annotated locations for NP_006310.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI696848, AK097691
      Consensus CDS
      CCDS10657.1
      UniProtKB/Swiss-Prot
      B4DUV0, H3BTV1, O14735, Q6FGU1, Q6ZN70
      UniProtKB/TrEMBL
      A8K3L7, Q53HA5
      Related
      ENSP00000219789.6, ENST00000219789.11
      Conserved Domains (1) summary
      pfam01066
      Location:10 → 72
      CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      29858357..29863226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30140992..30145861 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145752.1: Suppressed sequence

      Description
      NM_145752.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14735.1 GenPept UniProtKB/Swiss-Prot:O14735

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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