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    Plekhh1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 [ Mus musculus (house mouse) ]

    Gene ID: 211945, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Plekhh1provided by MGI
    Official Full Name
    pleckstrin homology domain containing, family H (with MyTH4 domain) member 1provided by MGI
    Primary source
    MGI:MGI:2144989
    See related
    Ensembl:ENSMUSG00000060716 AllianceGenome:MGI:2144989
    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
    mKIAA1200; D630024D12Rik
    Summary
    Predicted to be located in cytoskeleton. Is expressed in genitourinary system. Orthologous to human PLEKHH1 (pleckstrin homology, MyTH4 and FERM domain containing H1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in placenta adult (RPKM 18.0), colon adult (RPKM 15.8) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 C3; 12 35.51 cM
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (79075937..79128429)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (79029163..79081655)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46359 Neighboring gene STARR-seq mESC enhancer starr_32581 Neighboring gene predicted gene, 46360 Neighboring gene STARR-seq mESC enhancer starr_32582 Neighboring gene transmembrane protein 229B Neighboring gene STARR-seq mESC enhancer starr_32583 Neighboring gene STARR-seq mESC enhancer starr_32585 Neighboring gene STARR-seq mESC enhancer starr_32589 Neighboring gene predicted gene, 53729 Neighboring gene RIKEN cDNA 9230116L04 gene Neighboring gene STARR-positive B cell enhancer ABC_E10760 Neighboring gene STARR-seq mESC enhancer starr_32591 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class H Neighboring gene ribosomal protein large PO subunit pseudogene

    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. The protein interactome of collapsin response mediator protein-2 (CRMP2/DPYSL2) reveals novel partner proteins in brain tissue. Martins-de-Souza D, et al. Proteomics Clin Appl, 2015 Oct. PMID 25921334
    2. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    3. Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo. Harrison SM, et al. Development, 1995 Aug. PMID 7671812
    4. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
    5. GUDMAP: the genitourinary developmental molecular anatomy project. McMahon AP, et al. J Am Soc Nephrol, 2008 Apr. PMID 18287559

    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)
    • Targeted (2) 
    • Endonuclease-mediated (2) 

    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family H member 1
    Names
    PH domain-containing family H member 1

    NCBI Reference Sequences (RefSeq)

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    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_181073.3 → NP_851418.2  pleckstrin homology domain-containing family H member 1

      See identical proteins and their annotated locations for NP_851418.2

      Status: VALIDATED

      Source sequence(s)
      AA072901, AK143387, BQ031023, CF538481, CJ106785
      Consensus CDS
      CCDS49097.1
      UniProtKB/Swiss-Prot
      Q3UPN4, Q80TI1, Q8BWF3, Q8K334, Q99JL2
      Related
      ENSMUSP00000049460.6, ENSMUST00000039928.7
      Conserved Domains (7) summary
      smart00139
      Location:826 → 980
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:682 → 785
      PH; Pleckstrin homology domain
      smart00295
      Location:993 → 1224
      B41; Band 4.1 homologues
      COG1196
      Location:15 → 177
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd13206
      Location:1220 → 1321
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:575 → 670
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      cl28922
      Location:990 → 1096
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      79075937..79128429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515646.3 → XP_006515709.1  pleckstrin homology domain-containing family H member 1 isoform X2

      Conserved Domains (8) summary
      smart00139
      Location:826 → 980
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:682 → 785
      PH; Pleckstrin homology domain
      smart00295
      Location:993 → 1224
      B41; Band 4.1 homologues
      COG1196
      Location:15 → 177
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK05563
      Location:100 → 269
      PRK05563; DNA polymerase III subunits gamma and tau; Validated
      cd13282
      Location:575 → 670
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      cl17171
      Location:1220 → 1320
      PH-like; Pleckstrin homology-like domain
      cl28922
      Location:990 → 1096
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    2. XM_036157303.1 → XP_036013196.1  pleckstrin homology domain-containing family H member 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3UPN4, Q80TI1, Q8BWF3, Q8K334, Q99JL2
      Related
      ENSMUSP00000151747.2, ENSMUST00000219956.2
      Conserved Domains (7) summary
      smart00139
      Location:826 → 980
      MyTH4; Domain in Myosin and Kinesin Tails
      smart00233
      Location:682 → 785
      PH; Pleckstrin homology domain
      smart00295
      Location:993 → 1224
      B41; Band 4.1 homologues
      COG1196
      Location:15 → 177
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd13206
      Location:1220 → 1321
      FERM_C-lobe_PLEKHH1_PLEKHH2; FERM domain C-lobe of Pleckstrin homology domain-containing family H
      cd13282
      Location:575 → 670
      PH1_PLEKHH1_PLEKHH2; Pleckstrin homology (PH) domain containing, family H (with MyTH4 domain) members 1 and 2 (PLEKHH1) PH domain, repeat 1
      cl28922
      Location:990 → 1096
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80TI1.2 GenPept UniProtKB/Swiss-Prot:Q80TI1

    Gene LinkOut

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