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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 9-Sep-2018

    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 Vega:OTTMUSG00000026986
    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; 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

    Genomic context

    See Plekha8 in Genome Data Viewer
    Location:
    6; 6 B3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (54595111..54645823)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (54545105..54595817)

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

    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)

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    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
      ENSMUSP00000098935.2, OTTMUSP00000033468, ENSMUST00000101385.2, OTTMUST00000066696
      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
      ENSMUSP00000112466.1, OTTMUSP00000033467, ENSMUST00000119706.7, OTTMUST00000066695
      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 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

      Range
      54595111..54645823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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