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    PITPNA phosphatidylinositol transfer protein alpha [ Homo sapiens (human) ]

    Gene ID: 5306, updated on 27-Nov-2024

    Summary

    Official Symbol
    PITPNAprovided by HGNC
    Official Full Name
    phosphatidylinositol transfer protein alphaprovided by HGNC
    Primary source
    HGNC:HGNC:9001
    See related
    Ensembl:ENSG00000174238 MIM:600174; AllianceGenome:HGNC:9001
    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
    PITPN; VIB1A; HEL-S-36; PI-TPalpha
    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 (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]
    Expression
    Ubiquitous expression in brain (RPKM 31.8), thyroid (RPKM 27.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PITPNA in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1517718..1562792, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1406472..1451511, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1421012..1466086, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1371831-1372451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11451 Neighboring gene myosin IC Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1394312-1395031 Neighboring gene uncharacterized LOC105371483 Neighboring gene inositol polyphosphate-5-phosphatase K Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7960 Neighboring gene PITPNA antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1437952-1438452 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:1445478-1446238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1453921-1454835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11453 Neighboring gene MPRA-validated peak2674 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1463158-1464124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7961 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:1465907-1466406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1474719-1475554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1478810-1479622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1479623-1480434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1480435-1481246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1481247-1482057 Neighboring gene solute carrier family 43 member 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1488375-1488922 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1488923-1489468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1489469-1490015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1490016-1490561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1490562-1491108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1491109-1491655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1493297-1493842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1493843-1494388 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:1495156-1495321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1496929-1497430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1509837-1510602 Neighboring gene RNA, 7SL, cytoplasmic 105, pseudogene Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-06-07)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-06-07)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC99649

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding EXP
    Inferred from Experiment
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphatidylcholine transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylcholine transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phosphatidylcholine transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylcholine transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylglycerol binding TAS
    Traceable Author Statement
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in phospholipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    phosphatidylinositol transfer protein alpha isoform
    Names
    PI-TP-alpha
    epididymis secretory protein Li 36
    ptdIns transfer protein alpha
    ptdInsTP alpha

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_013017.1 RefSeqGene

      Range
      5025..50099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006224.4NP_006215.1  phosphatidylinositol transfer protein alpha isoform

      See identical proteins and their annotated locations for NP_006215.1

      Status: REVIEWED

      Source sequence(s)
      AC100748, AL542612, BC082976
      Consensus CDS
      CCDS45563.1
      UniProtKB/Swiss-Prot
      Q00169
      UniProtKB/TrEMBL
      Q6NUL6, V9HWC5
      Related
      ENSP00000316809.7, ENST00000313486.12
      Conserved Domains (1) summary
      cd08888
      Location:3259
      SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      1517718..1562792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436299.1XP_047292255.1  phosphatidylinositol transfer protein alpha isoform isoform X1

      UniProtKB/TrEMBL
      B4E1U1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      1406472..1451511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316506.1XP_054172481.1  phosphatidylinositol transfer protein alpha isoform isoform X1

      UniProtKB/TrEMBL
      B4E1U1
    2. XM_054316507.1XP_054172482.1  phosphatidylinositol transfer protein alpha isoform isoform X1

      UniProtKB/TrEMBL
      B4E1U1