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    Pitpna phosphatidylinositol transfer protein, alpha [ Mus musculus (house mouse) ]

    Gene ID: 18738, updated on 23-Apr-2024

    Summary

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    Official Symbol
    Pitpnaprovided by MGI
    Official Full Name
    phosphatidylinositol transfer protein, alphaprovided by MGI
    Primary source
    MGI:MGI:99887
    See related
    Ensembl:ENSMUSG00000017781 AllianceGenome:MGI:99887
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    vb; Pitpn; vibrator
    Summary
    This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate by phosphoinositide-3-kinase. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 61.1), cortex adult (RPKM 50.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 B5; 11 45.92 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (75478889..75519630)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (75588079..75628804)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9036 Neighboring gene STARR-positive B cell enhancer ABC_E10689 Neighboring gene STARR-seq mESC enhancer starr_29997 Neighboring gene solute carrier family 43, member 2 Neighboring gene predicted gene 45606 Neighboring gene STARR-positive B cell enhancer ABC_E10690 Neighboring gene microRNA 3971 Neighboring gene STARR-positive B cell enhancer ABC_E9366 Neighboring gene STARR-positive B cell enhancer ABC_E9827 Neighboring gene STARR-positive B cell enhancer ABC_E9367 Neighboring gene RIKEN cDNA 4931413K12 gene Neighboring gene predicted gene, 53686 Neighboring gene cytochrome c oxidase, subunit VIIc pseudogene Neighboring gene STARR-seq mESC enhancer starr_30001 Neighboring gene STARR-positive B cell enhancer ABC_E3974 Neighboring gene inositol polyphosphate 5-phosphatase K Neighboring gene STARR-positive B cell enhancer ABC_E3975 Neighboring gene myosin IC

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Phosphatidylinositol transfer protein-α in platelets is inconsequential for thrombosis yet is utilized for tumor metastasis. Zhao L, et al. Nat Commun, 2017 Oct 31. PMID 29084966, Free PMC Article
    2. The pathologies associated with functional titration of phosphatidylinositol transfer protein alpha activity in mice. Alb JG Jr, et al. J Lipid Res, 2007 Aug. PMID 17525475
    3. Phosphatidylinositol transfer protein function in the mouse. Bankaitis VA, et al. Adv Enzyme Regul, 2004. PMID 15581491
    4. Lipid metabolism in phosphatidylinositol transfer protein alpha-deficient vibrator mice. Monaco ME, et al. Biochem Biophys Res Commun, 2004 Apr 30. PMID 15063778
    5. Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia. Alb JG Jr, et al. J Biol Chem, 2003 Aug 29. PMID 12788952, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these data show that ablating PITPs in MKs indirectly dysregulates hematopoiesis in the BM by disrupting alpha-granule physiology and secretion of TGF-beta1.
      Title: Phosphatidylinositol transfer proteins regulate megakaryocyte TGF-β1 secretion and hematopoiesis in mice.
    2. platelet PITPalpha-mediated phosphoinositide signaling is inconsequential for in vivo hemostasis.
      Title: Phosphatidylinositol transfer protein-α in platelets is inconsequential for thrombosis yet is utilized for tumor metastasis.
    3. These results indicate a mechanism of suppression that bypasses a quantitative requirement for PITPalpha function.
      Title: Modifier genes for mouse phosphatidylinositol transfer protein α (vibrator) that bypass juvenile lethality.
    4. phosphatidylinositol binding is an essential functional property of PITPalpha in vivo, and suggest a causal linkage between defects in lipid transport and glucose homeostasis and cerebellar inflammatory disease
      Title: The pathologies associated with functional titration of phosphatidylinositol transfer protein alpha activity in mice.
    5. Involved in phosphoionoitide homeostasis and signal transsduction (review)
      Title: Phosphatidylinositol transfer protein function in the mouse.
    6. Data suggest that phosphatidylinositol transfer protein (PITP) beta is an essential housekeeping PITP in murine cells, whereas PITP alpha plays a far more specialized function in mammals.
      Title: Genetic ablation of phosphatidylinositol transfer protein function in murine embryonic stem cells.
    7. These results identify a crucial role for PlTPalpha in netrin-1-induced neurite outgrowth, revealing a signalling mechanism for DCC/neogenin and PlTPalpha regulation.
      Title: Phosphatidylinositol transfer protein-alpha in netrin-1-induced PLC signalling and neurite outgrowth.
    8. The PITPalpha function in murine cells has no deleterious consequences for growth and bulk phospholipid metabolism.
      Title: Biological functions of phosphatidylinositol transfer proteins.
    9. PITP alpha has a role with glucose homeostasis and in mammalian endoplasmic reticulum functions that interface with transport of specific luminal lipid cargoes
      Title: Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables fatty-acyl-CoA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables phosphatidylcholine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylcholine binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylcholine binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylcholine transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylcholine transfer activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylcholine transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylcholine transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol transfer activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables phospholipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables stearic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phospholipid transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in myelin sheath HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylinositol transfer protein alpha isoform
    Names
    PI-TP-alpha
    Pitp alpha
    ptdIns transfer protein alpha
    ptdInsTP alpha

    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_008850.2 → NP_032876.1  phosphatidylinositol transfer protein alpha isoform

      See identical proteins and their annotated locations for NP_032876.1

      Status: REVIEWED

      Source sequence(s)
      AK153569, AK168720, BQ176339, BY316588
      Consensus CDS
      CCDS25052.1
      UniProtKB/Swiss-Prot
      P53810
      UniProtKB/TrEMBL
      J3QPW1, Q3UE53, Q5ND42
      Related
      ENSMUSP00000115723.2, ENSMUST00000143219.8
      Conserved Domains (1) summary
      cd08888
      Location:3 → 260
      SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      75478889..75519630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156423.1 → XP_036012316.1  phosphatidylinositol transfer protein alpha isoform isoform X1

      Conserved Domains (1) summary
      cl14643
      Location:1 → 186
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53810.2 GenPept UniProtKB/Swiss-Prot:P53810

    Gene LinkOut

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

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