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    Paxip1 PAX interacting (with transcription-activation domain) protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 55982, updated on 11-Jul-2021

    Summary

    Official Symbol
    Paxip1provided by MGI
    Official Full Name
    PAX interacting (with transcription-activation domain) protein 1provided by MGI
    Primary source
    MGI:MGI:1890430
    See related
    Ensembl:ENSMUSG00000002221
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    P; PTIP; D5Ertd149; D5Ertd149e
    Summary
    This gene encodes a nuclear-localized protein that contains six BRCT1 (C-terminal of breast cancer susceptibility protein) domains. The encoded protein is involved in the repair of DNA double-strand breaks and is necessary for progression through cell division. The protein also functions in the regulation of transcription by recruiting histone methyltransferases to gene promoters bound by the sequence-specific transcription factor paired box protein 2 (Pax2). [provided by RefSeq, Mar 2013]
    Expression
    Ubiquitous expression in thymus adult (RPKM 12.1), ovary adult (RPKM 11.4) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Paxip1 in Genome Data Viewer
    Location:
    5 B1; 5 13.23 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (27945078..27999326, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (27740080..27791672, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (28067205..28117879, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene dipeptidylpeptidase 6 Neighboring gene spermatogenesis associated glutamate (E)-rich protein 4B Neighboring gene predicted gene 16058 Neighboring gene predicted gene, 20239 Neighboring gene 5-hydroxytryptamine (serotonin) receptor 5A

    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

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chorion development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in histone H3-K4 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of histone H3-K36 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of histone acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of isotype switching IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of isotype switching to IgG isotypes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription initiation from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription initiation from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cell cycle G2/M phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MLL3/4 complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of histone methyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    PAX-interacting protein 1
    Names
    PAX transactivation activation domain-interacting protein

    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_018878.3NP_061366.2  PAX-interacting protein 1

      See identical proteins and their annotated locations for NP_061366.2

      Status: REVIEWED

      Source sequence(s)
      AC146612, AW121106, BC066014
      Consensus CDS
      CCDS39039.1
      UniProtKB/Swiss-Prot
      Q6NZQ4
      Related
      ENSMUSP00000002291.8, ENSMUST00000002291.12
      Conserved Domains (4) summary
      smart00292
      Location:9571040
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:856922
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      pfam00533
      Location:588664
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:697758
      PTCB-BRCT; twin BRCT domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      27945078..27999326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535758.5XP_006535821.1  PAX-interacting protein 1 isoform X1

      Conserved Domains (6) summary
      cd17710
      Location:98178
      BRCT_PAXIP1_rpt2; second BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17711
      Location:595676
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:853927
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17714
      Location:1387
      BRCT_PAXIP1_rpt1; first (N-terminal) BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:696768
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:9591049
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
    2. XM_030254708.2XP_030110568.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
    3. XM_030254709.2XP_030110569.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
    4. XM_036165319.1XP_036021212.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
    5. XM_036165320.1XP_036021213.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
    6. XM_030254707.2XP_030110567.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
    7. XM_036165321.1XP_036021214.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
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