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    Plekhj1 pleckstrin homology domain containing, family J member 1 [ Mus musculus (house mouse) ]

    Gene ID: 78670, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Plekhj1provided by MGI
    Official Full Name
    pleckstrin homology domain containing, family J member 1provided by MGI
    Primary source
    MGI:MGI:1925920
    See related
    Ensembl:ENSMUSG00000035278 AllianceGenome:MGI:1925920
    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
    9530063M10Rik
    Summary
    Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Predicted to be active in early endosome; recycling endosome; and trans-Golgi network. Is expressed in brain; gonad; liver; musculature; and spleen. Orthologous to human PLEKHJ1 (pleckstrin homology domain containing J1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 26.2), limb E14.5 (RPKM 24.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Plekhj1 in Genome Data Viewer
    Location:
    10 C1; 10 39.72 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (80631933..80634404, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (80796099..80798626, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8348 Neighboring gene STARR-positive B cell enhancer ABC_E3900 Neighboring gene predicted gene, 53592 Neighboring gene DOT1 like histone lysine methyltransferase Neighboring gene STARR-seq mESC enhancer starr_27297 Neighboring gene VISTA enhancer mm200 Neighboring gene splicing factor 3a, subunit 2 Neighboring gene Amh promoter region Neighboring gene anti-Mullerian hormone

    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. An expressed GNRP-like gene shares a bi-directional promoter with SF3A2 (SAP62) immediately upstream of AMH. Dresser DW, et al. Gene, 2001 Oct 17. PMID 11602354
    2. The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous. Dresser DW, et al. Hum Mol Genet, 1995 Sep. PMID 8541848
    3. Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo. Evsikov AV, et al. Genes Dev, 2006 Oct 1. PMID 17015433, Free PMC Article
    4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (19) 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) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    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
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    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 J member 1
    Names
    PH domain-containing family J member 1
    guanine nucleotide releasing protein x

    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_023900.3 → NP_076389.2  pleckstrin homology domain-containing family J member 1

      See identical proteins and their annotated locations for NP_076389.2

      Status: VALIDATED

      Source sequence(s)
      AC166937
      Consensus CDS
      CCDS48640.1
      UniProtKB/Swiss-Prot
      Q8BQ13, Q9D240, Q9EPF0
      Related
      ENSMUSP00000042334.6, ENSMUST00000036805.7
      Conserved Domains (2) summary
      cd13258
      Location:1 → 112
      PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) domain
      pfam00169
      Location:25 → 108
      PH; 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_000076.7 Reference GRCm39 C57BL/6J

      Range
      80631933..80634404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314166.2 → XP_017169655.1  pleckstrin homology domain-containing family J member 1 isoform X3

      Related
      ENSMUST00000219767.2
      Conserved Domains (1) summary
      cd13258
      Location:1 → 106
      PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) domain

    2. XM_030245395.1 → XP_030101255.1  pleckstrin homology domain-containing family J member 1 isoform X5

      Conserved Domains (1) summary
      cl17171
      Location:1 → 67
      PH-like; Pleckstrin homology-like domain

    3. XM_006514326.3 → XP_006514389.1  pleckstrin homology domain-containing family J member 1 isoform X1

      Conserved Domains (1) summary
      cd13258
      Location:1 → 112
      PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) domain

    4. XM_006514327.4 → XP_006514390.1  pleckstrin homology domain-containing family J member 1 isoform X4

      Conserved Domains (1) summary
      cl17171
      Location:1 → 67
      PH-like; Pleckstrin homology-like domain

    5. XM_017314165.1 → XP_017169654.1  pleckstrin homology domain-containing family J member 1 isoform X2

      Conserved Domains (1) summary
      cd13258
      Location:1 → 106
      PH_PLEKHJ1; Pleckstrin homology domain containing, family J member 1 Pleckstrin homology (PH) domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D240.1 GenPept UniProtKB/Swiss-Prot:Q9D240

    Gene LinkOut

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

    Other Literature Sources
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