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    Plekha1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [ Mus musculus (house mouse) ]

    Gene ID: 101476, updated on 11-Apr-2024

    Summary

    Official Symbol
    Plekha1provided by MGI
    Official Full Name
    pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1provided by MGI
    Primary source
    MGI:MGI:2442213
    See related
    Ensembl:ENSMUSG00000040268 AllianceGenome:MGI:2442213
    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
    TAPP1; C920009D07Rik
    Summary
    Predicted to enable PDZ domain binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Acts upstream of or within several processes, including cellular hormone metabolic process; face morphogenesis; and gonad development. Predicted to be located in cytosol; nucleoplasm; and ruffle membrane. Predicted to be active in cytoplasm and membrane. Is expressed in several structures, including ganglia; lung; metanephros; nasal epithelium; and ureter. Orthologous to human PLEKHA1 (pleckstrin homology domain containing A1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 32.7), whole brain E14.5 (RPKM 25.8) and 26 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Plekha1 in Genome Data Viewer
    Location:
    7 F3; 7 73.19 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (130462281..130515224)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (130860551..130913494)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene BTB domain containing 16 Neighboring gene STARR-seq mESC enhancer starr_20267 Neighboring gene STARR-positive B cell enhancer ABC_E8213 Neighboring gene predicted gene, 53377 Neighboring gene predicted gene 5602 Neighboring gene STARR-seq mESC enhancer starr_20271 Neighboring gene microRNA 7061 Neighboring gene STARR-seq mESC enhancer starr_20273 Neighboring gene STARR-seq mESC enhancer starr_20276 Neighboring gene HtrA serine peptidase 1 Neighboring gene STARR-seq mESC enhancer starr_20277 Neighboring gene STARR-seq mESC enhancer starr_20278 Neighboring gene deleted in malignant brain tumors 1

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables PDZ domain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables PDZ domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in B cell receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within Leydig cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within androgen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment of protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within estrogen metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within female gonad development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within luteinization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within platelet-derived growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ruffle organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    pleckstrin homology domain-containing family A member 1
    Names
    PH domain-containing family A member 1
    TAPP-1
    tandem PH domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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_001346515.1NP_001333444.1  pleckstrin homology domain-containing family A member 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115697
      Consensus CDS
      CCDS85434.1
      UniProtKB/Swiss-Prot
      Q8BK96, Q8BUL6, Q8BXU1, Q8VE13
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    2. NM_001357696.1NP_001344625.1  pleckstrin homology domain-containing family A member 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115697
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    3. NM_001382373.1NP_001369302.1  pleckstrin homology domain-containing family A member 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC115697
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    4. NM_001382374.1NP_001369303.1  pleckstrin homology domain-containing family A member 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115697
      UniProtKB/Swiss-Prot
      Q8BK96, Q8BUL6, Q8BXU1, Q8VE13
      Related
      ENSMUSP00000074675.5, ENSMUST00000075181.11
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    5. NM_001382375.1NP_001369304.1  pleckstrin homology domain-containing family A member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC115697
      UniProtKB/TrEMBL
      D3YU01, D6RCU3
      Related
      ENSMUSP00000112777.2, ENSMUST00000120441.8
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    6. NM_001382376.1NP_001369305.1  pleckstrin homology domain-containing family A member 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC115697
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    7. NM_001382377.1NP_001369306.1  pleckstrin homology domain-containing family A member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC115697
      UniProtKB/TrEMBL
      D6RCU3
      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    8. NM_001382378.1NP_001369307.1  pleckstrin homology domain-containing family A member 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC115697
      UniProtKB/TrEMBL
      D3YU01, D6RCU3
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    9. NM_001382379.1NP_001369308.1  pleckstrin homology domain-containing family A member 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC115697
      UniProtKB/TrEMBL
      D6RCU3
      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    10. NM_133942.3NP_598703.1  pleckstrin homology domain-containing family A member 1 isoform 1

      See identical proteins and their annotated locations for NP_598703.1

      Status: VALIDATED

      Source sequence(s)
      AC115697
      Consensus CDS
      CCDS21907.1
      UniProtKB/Swiss-Prot
      Q8BUL6
      Related
      ENSMUSP00000035375.6, ENSMUST00000048180.12
      Conserved Domains (3) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      pfam00169
      Location:144240
      PH; PH domain
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like 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_000073.7 Reference GRCm39 C57BL/6J

      Range
      130462281..130515224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321904.2XP_017177393.1  pleckstrin homology domain-containing family A member 1 isoform X1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    2. XM_006507152.2XP_006507215.1  pleckstrin homology domain-containing family A member 1 isoform X7

      UniProtKB/TrEMBL
      D6RCU3
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    3. XM_006507140.1XP_006507203.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_006507203.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    4. XM_006507145.1XP_006507208.1  pleckstrin homology domain-containing family A member 1 isoform X2

      See identical proteins and their annotated locations for XP_006507208.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    5. XM_006507150.1XP_006507213.1  pleckstrin homology domain-containing family A member 1 isoform X6

      See identical proteins and their annotated locations for XP_006507213.1

      Conserved Domains (2) summary
      cd13271
      Location:137248
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    6. XM_036152519.1XP_036008412.1  pleckstrin homology domain-containing family A member 1 isoform X8

      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    7. XM_030241937.1XP_030097797.1  pleckstrin homology domain-containing family A member 1 isoform X9

      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    8. XM_006507151.5XP_006507214.1  pleckstrin homology domain-containing family A member 1 isoform X6

      See identical proteins and their annotated locations for XP_006507214.1

      Conserved Domains (2) summary
      cd13271
      Location:137248
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    9. XM_006507141.5XP_006507204.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_006507204.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    10. XM_036152518.1XP_036008411.1  pleckstrin homology domain-containing family A member 1 isoform X4

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    11. XM_036152520.1XP_036008413.1  pleckstrin homology domain-containing family A member 1 isoform X9

      Conserved Domains (2) summary
      cd13271
      Location:137250
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:175
      PH-like; Pleckstrin homology-like domain
    12. XM_036152517.1XP_036008410.1  pleckstrin homology domain-containing family A member 1 isoform X3

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    13. XM_030241935.2XP_030097795.1  pleckstrin homology domain-containing family A member 1 isoform X2

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    14. XM_030241936.2XP_030097796.1  pleckstrin homology domain-containing family A member 1 isoform X5

      UniProtKB/Swiss-Prot
      Q8BK96, Q8BUL6, Q8BXU1, Q8VE13
      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185298
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    15. XM_006507143.5XP_006507206.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_006507206.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    16. XM_006507142.4XP_006507205.1  pleckstrin homology domain-containing family A member 1 isoform X1

      See identical proteins and their annotated locations for XP_006507205.1

      Conserved Domains (2) summary
      cd13270
      Location:1117
      PH1_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, N-terminal repeat
      cd13271
      Location:185296
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
    17. XM_036152521.1XP_036008414.1  pleckstrin homology domain-containing family A member 1 isoform X10

      Conserved Domains (2) summary
      cd13271
      Location:165278
      PH2_TAPP1_2; Tandem PH-domain-containing proteins 1 and 2 Pleckstrin homology (PH) domain, C-terminal repeat
      cl17171
      Location:4897
      PH-like; Pleckstrin homology-like domain