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

Gene ID: 327958, updated on 5-Mar-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 located in membrane. Predicted to be active in COPII-coated ER to Golgi transport vesicle. 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, Apr 2022]
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. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article
  4. 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
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (15) 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 ISO
Inferred from Sequence Orthology
more info
  
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion 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 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 ISO
Inferred from Sequence Orthology
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 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_001024927.2 → 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)
    AK147444, AK147630, CF531644, CJ123564, CO038995
    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_001081641.1 → 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)
    AK147630, CJ123564, CK617198, CO038995
    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

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