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    Pitpnc1 phosphatidylinositol transfer protein, cytoplasmic 1 [ Mus musculus (house mouse) ]

    Gene ID: 71795, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Pitpnc1provided by MGI
    Official Full Name
    phosphatidylinositol transfer protein, cytoplasmic 1provided by MGI
    Primary source
    MGI:MGI:1919045
    See related
    Ensembl:ENSMUSG00000040430 AllianceGenome:MGI:1919045
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    RDGBB; Dnr411; RDGBB1; mrdgBbeta; rdgB-beta; 1110020B03Rik; 5830436L09Rik; C330017I21Rik
    Summary
    Enables phosphatidylinositol binding activity. Predicted to be involved in phospholipid transport and signal transduction. Predicted to act upstream of or within phosphatidylinositol metabolic process. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; genitourinary system; liver; retina; and small intestine. Orthologous to human PITPNC1 (phosphatidylinositol transfer protein cytoplasmic 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung adult (RPKM 13.5), CNS E18 (RPKM 9.7) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pitpnc1 in Genome Data Viewer
    Location:
    11 E1; 11 70.21 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (107098718..107361546, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (107207892..107470720, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:107050502-107050685 Neighboring gene STARR-seq mESC enhancer starr_30965 Neighboring gene nucleolar protein 11 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene predicted gene, 39425 Neighboring gene actin, gamma, cytoplasmic 1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E7084 Neighboring gene STARR-seq mESC enhancer starr_30969 Neighboring gene STARR-positive B cell enhancer mm9_chr11:107194258-107194558 Neighboring gene STARR-seq mESC enhancer starr_30972 Neighboring gene predicted gene 11716 Neighboring gene STARR-seq mESC enhancer starr_30979 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:107278463-107278572 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:107278655-107278916 Neighboring gene STARR-seq mESC enhancer starr_30982 Neighboring gene predicted gene 11713 Neighboring gene STARR-seq mESC enhancer starr_30985 Neighboring gene predicted gene 11714 Neighboring gene STARR-positive B cell enhancer ABC_E4008 Neighboring gene STARR-positive B cell enhancer ABC_E3032 Neighboring gene STARR-positive B cell enhancer mm9_chr11:107340564-107340865 Neighboring gene STARR-seq mESC enhancer starr_30988 Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 Neighboring gene RIKEN cDNA A830035A12 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:107390700-107390809

    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. PITPNC1 promotes the thermogenesis of brown adipose tissue under acute cold exposure. Tang G, et al. Sci China Life Sci, 2022 Nov. PMID 36166181
    2. Cloning and characterization of a novel variant (mM-rdgBbeta1) of mouse M-rdgBs, mammalian homologs of Drosophila retinal degeneration B gene proteins, and its mRNA localization in mouse brain in comparison with other M-rdgBs. Takano N, et al. J Neurochem, 2003 Feb. PMID 12562526
    3. Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. Taniwaki T, et al. Dev Growth Differ, 2005 Apr. PMID 15840001
    4. Exchangeable gene trap using the Cre/mutated lox system. Araki K, et al. Cell Mol Biol (Noisy-le-grand), 1999 Jul. PMID 10512203
    5. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PITPNC1 promotes the thermogenesis of brown adipose tissue under acute cold exposure.
      Title: PITPNC1 promotes the thermogenesis of brown adipose tissue under acute cold exposure.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC118005

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidic acid transfer activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylglycerol binding 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phospholipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within lipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within phosphatidylinositol metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phospholipid transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal transduction 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 cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytoplasmic phosphatidylinositol transfer protein 1
    Names
    diabetic nephropathy-related protein
    mammalian rdgB homolog beta
    retinal degeneration B homolog beta

    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_001359616.1 → NP_001346545.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB077282, AI851387, AK153625, AK171340, AL596116
      UniProtKB/Swiss-Prot
      A2A650, A2A651, Q3TBB3, Q3U5F5, Q8K4R4, Q8K4R5
      UniProtKB/TrEMBL
      Q8BTD8
      Conserved Domains (1) summary
      cd08890
      Location:2 → 250
      SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)

    2. NM_145823.2 → NP_665822.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform 2

      See identical proteins and their annotated locations for NP_665822.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in its 3' coding region, resulting in a frameshift and a premature stop codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK171340, AL596116, BC082333
      Consensus CDS
      CCDS25567.1
      UniProtKB/Swiss-Prot
      Q8K4R4
      Related
      ENSMUSP00000099353.4, ENSMUST00000103064.10
      Conserved Domains (1) summary
      cd08890
      Location:2 → 250
      SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)

    RNA

    1. NR_153311.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AB077281, AI851387, AK153625, AK171340, AL596116

    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
      107098718..107361546 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534264.5 → XP_006534327.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006534327.1

      Conserved Domains (1) summary
      cd08890
      Location:1 → 227
      SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)

    2. XM_006534263.5 → XP_006534326.1  cytoplasmic phosphatidylinositol transfer protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0A0MQ88, Q8BTD8
      Related
      ENSMUSP00000046337.7, ENSMUST00000040380.13
      Conserved Domains (1) summary
      cd08890
      Location:1 → 227
      SRPBCC_PITPNC1_like; Lipid-binding SRPBCC domain of mammalian PITPNC1,and related proteins (Class IIB PITPs)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K4R4.1 GenPept UniProtKB/Swiss-Prot:Q8K4R4

    Gene LinkOut

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

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