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    Pits Protein interacting with Ttk69 and Sin3A [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 32205, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pitsprovided by FlyBase
    Official Full Name
    Protein interacting with Ttk69 and Sin3Aprovided by FlyBase
    Primary source
    FLYBASE:FBgn0030400
    Locus tag
    Dmel_CG11138
    See related
    AllianceGenome:FB:FBgn0030400
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    BcDNA:RE48052; BEST:RE18684; CG11138; CG1855; Dmel\CG11138; EP(X)1313; pits; RE18684
    Summary
    Enables ubiquitin protein ligase activity. Involved in regulation of gene expression. Located in cytoplasm and nuclear periphery. Colocalizes with polytene chromosome. Is expressed in several structures, including adult brain cell body rind; embryonic/larval midgut primordium; presumptive embryonic/larval central nervous system; and synaptic neuropil domain. Used to study central nervous system disease and neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. Human ortholog(s) of this gene implicated in common variable immunodeficiency 14 and neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. Orthologous to several human genes including IRF2BP1 (interferon regulatory factor 2 binding protein 1) and IRF2BPL (interferon regulatory factor 2 binding protein like). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Pits in Genome Data Viewer
    Location:
    11B1-11B2; 1-39 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) X NC_004354.4 (12569169..12583193, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) X NC_004354.3 (12463202..12477226, complement)

    Chromosome X - NC_004354.4Genomic Context describing neighboring genes Neighboring gene meduse Neighboring gene heavyweight Neighboring gene Cuticular protein 11B Neighboring gene LIM domain kinase 1 Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy. Sinha Ray S, et al. Cell Rep, 2022 Dec 6. PMID 36476864
    2. IRF2BPL Is Associated with Neurological Phenotypes. Marcogliese PC, et al. Am J Hum Genet, 2018 Aug 2. PMID 30057031, Free PMC Article
    3. Exploiting fly models to investigate rare human neurological disorders. Tanaka T, et al. Neural Regen Res, 2025 Jan 1. PMID 38767473, Free PMC Article
    4. Pits, a protein interacting with Ttk69 and Sin3A, has links to histone deacetylation. Liaw GJ. Sci Rep, 2016 Sep 13. PMID 27622813, Free PMC Article
    5. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Marcogliese PC, et al. Sci Adv, 2022 Jan 21. PMID 35044823, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pits and CtBP Control Tissue Growth in Drosophila melanogaster with the Hippo Pathway Transcription Repressor Tgi.
      Title: Pits and CtBP Control Tissue Growth in Drosophila melanogaster with the Hippo Pathway Transcription Repressor Tgi.
    Submit: New GeneRIF Correction

    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 FlyBase

    Function Evidence Code Pubs
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with polytene chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein interacting with Ttk69 and Sin3A
    Names
    CG11138-PC
    CG11138-PD
    CG11138-PE
    Pits-PC
    Pits-PD
    Pits-PE

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NC_004354.4 Reference assembly

      Range
      12569169..12583193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001272557.1 → NP_001259486.1  protein interacting with Ttk69 and Sin3A, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001259486.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      C7LAH5, M9PHN7
      Conserved Domains (2) summary
      pfam00097
      Location:503 → 548
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam11261
      Location:6 → 57
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

    2. NM_132581.3 → NP_572809.1  protein interacting with Ttk69 and Sin3A, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_572809.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      C7LAH5, Q9VYL7
      Related
      FBpp0073495
      Conserved Domains (2) summary
      pfam00097
      Location:533 → 578
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam11261
      Location:6 → 57
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

    3. NM_001144720.3 → NP_001138192.1  protein interacting with Ttk69 and Sin3A, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001138192.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      B7Z143, C7LAH5
      Conserved Domains (2) summary
      pfam00097
      Location:548 → 593
      zf-C3HC4; Zinc finger, C3HC4 type (RING finger)
      pfam11261
      Location:6 → 57
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B7Z143 B7Z143
    M9PHN7 M9PHN7
    Q8MS22 Q8MS22
    Q8SXY9 Q8SXY9
    Q9VYL7 Q9VYL7

    Gene LinkOut

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