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

Gene ID: 71795, updated on 30-Apr-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

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