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

Gene ID: 18738, updated on 5-Mar-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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See Pitpna in Genome Data Viewer
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.
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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

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