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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 11-Apr-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 human PLEKHA8 (pleckstrin homology domain containing A8). [provided by Alliance of Genome Resources, Apr 2022]
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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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
  • 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 (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)
  • Targeted (6)  1 citation
  • Endonuclease-mediated (1) 

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 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 ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intermembrane lipid transfer IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within lipid transport IEA
Inferred from Electronic Annotation
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
  
located_in membrane 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
  

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

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