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    Pitpnm3 PITPNM family member 3 [ Mus musculus (house mouse) ]

    Gene ID: 327958, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Pitpnm3provided by MGI
    Official Full Name
    PITPNM family member 3provided by MGI
    Primary source
    MGI:MGI:2685726
    See related
    Ensembl:ENSMUSG00000040543 AllianceGenome:MGI:2685726
    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
    Ackr6; Gm880; A330068P14Rik
    Summary
    Predicted to enable calcium ion binding activity; phospholipase activity; and receptor tyrosine kinase binding activity. Predicted to be involved in phospholipid transport. Predicted to be located in cell body and cell projection. Predicted to be active in cytoplasm. Is expressed in retina outer nuclear layer. Human ortholog(s) of this gene implicated in cone-rod dystrophy 5. Orthologous to human PITPNM3 (PITPNM family member 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in frontal lobe adult (RPKM 23.6), cortex adult (RPKM 15.6) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pitpnm3 in Genome Data Viewer
    Location:
    11 B4; 11 43.82 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (71938354..72026715, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (72047528..72135889, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 23226 Neighboring gene STARR-positive B cell enhancer ABC_E9825 Neighboring gene STARR-positive B cell enhancer ABC_E8421 Neighboring gene aryl hydrocarbon receptor-interacting protein-like 1 Neighboring gene PICALM interacting mitotic regulator Neighboring gene predicted gene, 46286 Neighboring gene STARR-seq mESC enhancer starr_29899 Neighboring gene RIKEN cDNA 4933427D14 gene Neighboring gene predicted gene, 57849 Neighboring gene thioredoxin domain containing 17

    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. Pitpnm1 is expressed in hair cells during development but is not required for hearing. Carlisle FA, et al. Neuroscience, 2013 Sep 17. PMID 23820044, Free PMC Article
    2. Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations. Munton RP, et al. Mol Cell Proteomics, 2007 Feb. PMID 17114649
    3. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article
    4. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article
    5. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    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 calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables receptor tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables receptor tyrosine kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in phospholipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell projection ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    membrane-associated phosphatidylinositol transfer protein 3
    Names
    NIR-1
    PITPnm 3
    phosphatidylinositol transfer protein, membrane-associated 3
    pyk2 N-terminal domain-interacting receptor 1

    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_001024927.3 → NP_001020098.1  membrane-associated phosphatidylinositol transfer protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001020098.1

      Status: VALIDATED

      Source sequence(s)
      BX119911
      Consensus CDS
      CCDS24978.1
      UniProtKB/Swiss-Prot
      A6QRE8, Q3UH22, Q3UHE1, Q5RIT9
      Related
      ENSMUSP00000074737.7, ENSMUST00000075258.13
      Conserved Domains (2) summary
      smart00775
      Location:739 → 869
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:393 → 593
      DDHD; DDHD domain

    2. NM_001081641.2 → NP_001075110.1  membrane-associated phosphatidylinositol transfer protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001075110.1

      Status: VALIDATED

      Source sequence(s)
      BX119911
      Consensus CDS
      CCDS36213.1
      UniProtKB/Swiss-Prot
      Q3UHE1
      Related
      ENSMUSP00000104148.3, ENSMUST00000108508.3
      Conserved Domains (2) summary
      smart00775
      Location:723 → 853
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:377 → 577
      DDHD; DDHD domain

    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
      71938354..72026715 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006533566.1 → XP_006533629.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X6

      Conserved Domains (2) summary
      smart00775
      Location:699 → 829
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:353 → 553
      DDHD; DDHD domain

    2. XM_017314612.1 → XP_017170101.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X7

      Conserved Domains (2) summary
      smart00775
      Location:675 → 805
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:394 → 529
      DDHD; DDHD domain

    3. XM_006533565.2 → XP_006533628.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X5

      Conserved Domains (2) summary
      smart00775
      Location:701 → 831
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:394 → 592
      DDHD; DDHD domain

    4. XM_006533563.1 → XP_006533626.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X1

      Conserved Domains (2) summary
      smart00775
      Location:740 → 870
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:394 → 594
      DDHD; DDHD domain

    5. XM_006533564.1 → XP_006533627.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X2

      Conserved Domains (2) summary
      smart00775
      Location:724 → 854
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:378 → 578
      DDHD; DDHD domain

    6. XM_030246094.2 → XP_030101954.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X8

      Conserved Domains (2) summary
      smart00775
      Location:576 → 706
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:230 → 430
      DDHD; DDHD domain

    7. XM_030246093.2 → XP_030101953.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X4

      Conserved Domains (2) summary
      smart00775
      Location:714 → 844
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:368 → 568
      DDHD; DDHD domain

    8. XM_011249083.4 → XP_011247385.1  membrane-associated phosphatidylinositol transfer protein 3 isoform X3

      Conserved Domains (2) summary
      smart00775
      Location:715 → 845
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:369 → 569
      DDHD; DDHD domain

    RNA

    1. XR_388480.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UHE1.2 GenPept UniProtKB/Swiss-Prot:Q3UHE1

    Gene LinkOut

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

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