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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 23-Jun-2021

    Summary

    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
    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
    FA; Fapp2; Fapp-2; AA517676; BC052360; 6330400G01
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 6.6), colon adult (RPKM 5.8) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Plekha8 in Genome Data Viewer
    Location:
    6; 6 B3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (54545105..54595817)

    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 predicted gene, 34249 Neighboring gene maturin, neural progenitor differentiation regulator homolog (Xenopus) Neighboring gene predicted gene, 44008

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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

    General protein information

    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)

    NEW Try the new Transcript table

    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_001001335.2NP_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:288425
      GLTP; Glycolipid transfer protein (GLTP)
      cl17171
      Location:155
      PH-like; Pleckstrin homology-like domain
    2. NM_001164361.1NP_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:1100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:193
      PH; PH domain
      pfam08718
      Location:333470
      GLTP; Glycolipid transfer protein (GLTP)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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_036166044.1XP_036021937.1  pleckstrin homology domain-containing family A member 8 isoform X1

      Conserved Domains (1) summary
      cd01247
      Location:1100
      PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) domain
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