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Plekha3 pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 [ Mus musculus (house mouse) ]

Gene ID: 83435, updated on 5-Mar-2024

Summary

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Official Symbol
Plekha3provided by MGI
Official Full Name
pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3provided by MGI
Primary source
MGI:MGI:1932515
See related
Ensembl:ENSMUSG00000002733 AllianceGenome:MGI:1932515
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
FAPP1
Summary
Predicted to enable ceramide 1-phosphate transfer activity; identical protein binding activity; and phospholipid binding activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to be located in Golgi apparatus. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; orbito-sphenoid; and vascular system. Orthologous to human PLEKHA3 (pleckstrin homology domain containing A3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in genital fat pad adult (RPKM 43.1), bladder adult (RPKM 11.9) and 26 other tissues See more
Orthologs
human all
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Genomic context

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See Plekha3 in Genome Data Viewer
Location:
2 C3; 2 45.1 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (76505436..76527679)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (76675305..76697335)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2624 Neighboring gene STARR-positive B cell enhancer ABC_E11139 Neighboring gene STARR-seq mESC enhancer starr_04894 Neighboring gene pejvakin Neighboring gene predicted gene, 39860 Neighboring gene FK506 binding protein 7 Neighboring gene predicted gene, 57692 Neighboring gene titin Neighboring gene STARR-seq mESC enhancer starr_04895 Neighboring gene coiled-coil domain containing 141 Neighboring gene STARR-seq mESC enhancer starr_04897 Neighboring gene STARR-seq mESC enhancer starr_04899 Neighboring gene STARR-seq mESC enhancer starr_04900 Neighboring gene STARR-seq mESC enhancer starr_04901 Neighboring gene predicted gene, 39861

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. Targeted disruption of Zfp36l2, encoding a CCCH tandem zinc finger RNA-binding protein, results in defective hematopoiesis. Stumpo DJ, et al. Blood, 2009 Sep 17. PMID 19633199, Free PMC Article
  2. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Dowler S, et al. Biochem J, 2000 Oct 1. PMID 11001876, Free PMC Article
  3. 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
  4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
  5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, 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)
  • Targeted (2) 
  • Endonuclease-mediated (1) 

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables lipid binding 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 endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in receptor recycling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
pleckstrin homology domain-containing family A member 3
Names
FAPP-1
PH domain-containing family A member 3
phosphatidylinositol-four-phosphate adapter protein 1
phosphoinositol 4-phosphate adapter protein 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_031256.3 → NP_112546.1  pleckstrin homology domain-containing family A member 3

    See identical proteins and their annotated locations for NP_112546.1

    Status: VALIDATED

    Source sequence(s)
    AF286163, AL928789, BY730332
    Consensus CDS
    CCDS16162.1
    UniProtKB/Swiss-Prot
    Q9ERS4
    Related
    ENSMUSP00000107551.2, ENSMUST00000111920.2
    Conserved Domains (1) summary
    cd01247
    Location:1 → 100
    PH_FAPP1_FAPP2; Four phosphate adaptor protein 1 and 2 Pleckstrin homology (PH) 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_000068.8 Reference GRCm39 C57BL/6J

    Range
    76505436..76527679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006500446.5 → XP_006500509.1  pleckstrin homology domain-containing family A member 3 isoform X1

    See identical proteins and their annotated locations for XP_006500509.1

    UniProtKB/Swiss-Prot
    Q9ERS4
    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
Q9ERS4.1 GenPept UniProtKB/Swiss-Prot:Q9ERS4

Gene LinkOut

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

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