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    PITPNC1 phosphatidylinositol transfer protein cytoplasmic 1 [ Homo sapiens (human) ]

    Gene ID: 26207, updated on 27-Nov-2024

    Summary

    Official Symbol
    PITPNC1provided by HGNC
    Official Full Name
    phosphatidylinositol transfer protein cytoplasmic 1provided by HGNC
    Primary source
    HGNC:HGNC:21045
    See related
    Ensembl:ENSG00000154217 MIM:605134; AllianceGenome:HGNC:21045
    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
    RDGBB; RDGBB1; MRDGBbeta; RDGB-BETA; M-RDGB-beta
    Summary
    This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in brain (RPKM 10.9), lymph node (RPKM 5.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PITPNC1 in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67377281..67697256)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (68253168..68572814)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65373397..65693372)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA8 Neighboring gene MPRA-validated peak2951 silencer Neighboring gene MPRA-validated peak2952 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:65323222-65323938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65326873-65327713 Neighboring gene Sharpr-MPRA regulatory region 8649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8869 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65373203-65373896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8874 Neighboring gene proteasome 26S subunit, non-ATPase 12 Neighboring gene uncharacterized LOC124904047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12623 Neighboring gene Sharpr-MPRA regulatory region 1189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65403298-65404268 Neighboring gene small nucleolar RNA U13 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:65417530-65418729 Neighboring gene uncharacterized LOC124904046 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:65441636-65442194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12624 Neighboring gene RNA, 7SL, cytoplasmic 756, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12626 Neighboring gene microRNA 548aa-2 Neighboring gene microRNA 548d-2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:65516301-65516804 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:65515798-65516300 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:65515294-65515797 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65516805-65517306 Neighboring gene Sharpr-MPRA regulatory region 6638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65525829-65526481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65535333-65535834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65535835-65536334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65551665-65552166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65552167-65552666 Neighboring gene uncharacterized LOC124904045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12627 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65595554-65595782 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:65598997-65599506 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65636212-65636398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12629 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65651209-65651710 Neighboring gene uncharacterized LOC101928045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:65715225-65715946 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:65717475-65717706 Neighboring gene MPRA-validated peak2955 silencer Neighboring gene Sharpr-MPRA regulatory region 6571 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65747753-65748532 Neighboring gene Sharpr-MPRA regulatory region 8992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:65764054-65764654 Neighboring gene nucleolar protein 11 Neighboring gene small nucleolar RNA, H/ACA box 38B Neighboring gene ribosomal protein SA pseudogene 67

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of lung function phenotypes in a founder population.
    EBI GWAS Catalog
    Genome-wide association study to characterize serum bilirubin elevations in patients with HCV treated with GS-9256, an HCV NS3 serine protease inhibitor.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidic acid transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables phosphatidylcholine transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylglycerol binding IDA
    Inferred from Direct Assay
    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 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 intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cytoplasmic phosphatidylinositol transfer protein 1
    Names
    M-rdgB beta
    mammalian rdgB homolog beta
    retinal degeneration B beta 1
    retinal degeneration B homolog beta

    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.

    mRNA and Protein(s)

    1. NM_012417.4NP_036549.2  cytoplasmic phosphatidylinositol transfer protein 1 isoform a

      See identical proteins and their annotated locations for NP_036549.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC079331, AF171102, AI126821, BC037261, BE906407, BG504645, BU160959
      Consensus CDS
      CCDS58588.1
      UniProtKB/Swiss-Prot
      A8K473, J3QR20, Q96I07, Q9UKF7
      Related
      ENSP00000464006.1, ENST00000581322.6
      Conserved Domains (1) summary
      cd08890
      Location:2250
      SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)
    2. NM_181671.3NP_858057.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform b

      See identical proteins and their annotated locations for NP_858057.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC079331, AI126821, BC037261, BC067095, BG504645
      Consensus CDS
      CCDS58587.1
      UniProtKB/TrEMBL
      A0A0C4DGP0
      Related
      ENSP00000463626.1, ENST00000580974.6
      Conserved Domains (1) summary
      cd08890
      Location:2250
      SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB 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
      67377281..67697256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435746.1XP_047291702.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      68253168..68572814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)