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    Plekha8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 [ Mus musculus (house mouse) ]

    Gene ID: 231999, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Plekha8provided by MGI
    Official Full Name
    pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8provided by MGI
    Primary source
    MGI:MGI:2681164
    See related
    Ensembl:ENSMUSG00000005225 AllianceGenome:MGI:2681164
    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
    Fapp2; Fapp-2; 6330400G01
    Summary
    Predicted to enable glycolipid binding activity; lipid transfer activity; and phospholipid binding activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to be located in nucleoplasm and trans-Golgi network. Predicted to be active in cytosol. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and mesenteric adipose tissue. Orthologous to several human genes including PLEKHA8 (pleckstrin homology domain containing A8). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 6.6), colon adult (RPKM 5.8) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Plekha8 in Genome Data Viewer
    Location:
    6 B3; 6 27.02 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (54571883..54622808)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (54595111..54645823)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene WAS/WASL interacting protein family, member 3 Neighboring gene predicted gene, 44026 Neighboring gene secernin 1 Neighboring gene predicted gene, 52863 Neighboring gene FK506 binding protein 14 Neighboring gene STARR-seq mESC enhancer starr_15954 Neighboring gene predicted gene, 34249 Neighboring gene maturin, neural progenitor differentiation regulator homolog (Xenopus) Neighboring gene predicted gene, 44008

    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 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. Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi. D'Angelo G, et al. Nature, 2013 Sep 5. PMID 23913272
    2. Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. West DB, et al. PLoS Genet, 2016 Feb. PMID 26839965, Free PMC Article
    3. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    4. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (18) 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 (1) 
    • Targeted (6)  1 citation

    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 ceramide 1-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide 1-phosphate transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ceramide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glycolipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycolipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables glycolipid transfer activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glycolipid transfer activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-4-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in ER to Golgi ceramide transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ceramide transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycolipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intermembrane lipid transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family A member 8
    Names
    PH domain-containing family A member 8
    phosphatidylinositol-four-phosphate adapter protein 2
    phosphoinositol 4-phosphate adapter protein 2

    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_001001335.2 → NP_001001335.1  pleckstrin homology domain-containing family A member 8 isoform 2

      See identical proteins and their annotated locations for NP_001001335.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC084800
      Consensus CDS
      CCDS39491.1
      UniProtKB/Swiss-Prot
      Q80W71
      Related
      ENSMUSP00000098935.3, ENSMUST00000101385.3
      Conserved Domains (2) summary
      pfam08718
      Location:288 → 425
      GLTP; Glycolipid transfer protein (GLTP)
      cl17171
      Location:1 → 55
      PH-like; Pleckstrin homology-like domain

    2. NM_001164361.1 → NP_001157833.1  pleckstrin homology domain-containing family A member 8 isoform 1

      See identical proteins and their annotated locations for NP_001157833.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC084800, AK078040, BB647122
      Consensus CDS
      CCDS51781.1
      UniProtKB/Swiss-Prot
      Q80W71
      Related
      ENSMUSP00000112466.2, ENSMUST00000119706.8
      Conserved Domains (3) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:1 → 93
      PH; PH domain
      pfam08718
      Location:333 → 470
      GLTP; Glycolipid transfer protein (GLTP)

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      54571883..54622808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036166044.1 → XP_036021937.1  pleckstrin homology domain-containing family A member 8 isoform X1

      Conserved Domains (1) summary
      cd01247
      Location:1 → 100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80W71.2 GenPept UniProtKB/Swiss-Prot:Q80W71

    Gene LinkOut

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

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