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

    Gene ID: 55982, updated on 9-Dec-2024

    Summary

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    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 AllianceGenome:MGI:1890430
    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
    PTIP; 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
    human all
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    Genomic context

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    See Paxip1 in Genome Data Viewer
    Location:
    5 B1; 5 13.23 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (27947044..27999326, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (27740080..27791672, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene dipeptidylpeptidase 6 Neighboring gene STARR-seq mESC enhancer starr_12705 Neighboring gene spermatogenesis associated glutamate (E)-rich protein 4B Neighboring gene STARR-seq mESC enhancer starr_12706 Neighboring gene predicted gene 16058 Neighboring gene STARR-positive B cell enhancer ABC_E3565 Neighboring gene STARR-seq mESC enhancer starr_12707 Neighboring gene STARR-seq mESC enhancer starr_12709 Neighboring gene predicted gene, 20239 Neighboring gene 5-hydroxytryptamine (serotonin) receptor 5A

    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. PTIP Deficiency in B Lymphocytes Ameliorates Dextran Sulfate Sodium-Induced Ulcerative Colitis in Mice. Liu J, et al. Discov Med, 2023 Jun. PMID 37272101
    2. Pax transactivation domain-interacting protein is required for preserving hematopoietic stem cell quiescence via regulating lysosomal activity. Zhang T, et al. Haematologica, 2023 Sep 1. PMID 36924252, Free PMC Article
    3. Ptip is essential for tooth development via regulating Wnt pathway. Liang J, et al. Oral Dis, 2024 Apr. PMID 36648392
    4. Control of histone methylation and genome stability by PTIP. Muñoz IM, et al. EMBO Rep, 2009 Mar. PMID 19229280, Free PMC Article
    5. PTIP Deficiency in B Lymphocytes Reduces Subcutaneous Fat Deposition in Mice. Xu Y, et al. Biochemistry (Mosc), 2021 May. PMID 33993864

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PTIP epigenetically regulates DNA damage-induced cell cycle arrest by upregulating PRDM1.
      Title: PTIP epigenetically regulates DNA damage-induced cell cycle arrest by upregulating PRDM1.
    2. Ptip is essential for tooth development via regulating Wnt pathway.
      Title: Ptip is essential for tooth development via regulating Wnt pathway.
    3. Pax transactivation domain-interacting protein is required for preserving hematopoietic stem cell quiescence via regulating lysosomal activity.
      Title: Pax transactivation domain-interacting protein is required for preserving hematopoietic stem cell quiescence via regulating lysosomal activity.
    4. PTIP Deficiency in B Lymphocytes Ameliorates Dextran Sulfate Sodium-Induced Ulcerative Colitis in Mice.
      Title: PTIP Deficiency in B Lymphocytes Ameliorates Dextran Sulfate Sodium-Induced Ulcerative Colitis in Mice.
    5. PTIP governs NAD(+) metabolism by regulating CD38 expression to drive macrophage inflammation.
      Title: PTIP governs NAD(+) metabolism by regulating CD38 expression to drive macrophage inflammation.
    6. DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity.
      Title: DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity.
    7. PTIP Deficiency in B Lymphocytes Reduces Subcutaneous Fat Deposition in Mice.
      Title: PTIP Deficiency in B Lymphocytes Reduces Subcutaneous Fat Deposition in Mice.
    8. Regeneration after acute kidney injury requires PTIP-mediated epigenetic modifications.
      Title: Regeneration after acute kidney injury requires PTIP-mediated epigenetic modifications.
    9. lncRNA Gm10451 regulates PTIP to facilitate iPSCs-derived beta-like cell differentiation by targeting miR-338-3p as a ceRNA.
      Title: lncRNA Gm10451 regulates PTIP to facilitate iPSCs-derived β-like cell differentiation by targeting miR-338-3p as a ceRNA.
    10. PTIP as an epigenetic regulator of osteoclastogenesis.
      Title: Histone methylation regulator PTIP is required to maintain normal and leukemic bone marrow niches.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Variation

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    Alleles

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

    Pathways from PubChem

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    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA damage response, signal transduction by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA damage response, signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chorion development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 transcription initiation by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription initiation by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription initiation by RNA polymerase II 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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

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

    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_018878.4 → NP_061366.2  PAX-interacting protein 1

      See identical proteins and their annotated locations for NP_061366.2

      Status: VALIDATED

      Source sequence(s)
      AC146612
      Consensus CDS
      CCDS39039.1
      UniProtKB/Swiss-Prot
      Q6NZQ4, Q9Z0W6
      Related
      ENSMUSP00000002291.8, ENSMUST00000002291.12
      Conserved Domains (4) summary
      smart00292
      Location:957 → 1040
      BRCT; breast cancer carboxy-terminal domain
      cd00027
      Location:856 → 922
      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:588 → 664
      BRCT; BRCA1 C Terminus (BRCT) domain
      pfam12738
      Location:697 → 758
      PTCB-BRCT; twin BRCT 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_000071.7 Reference GRCm39 C57BL/6J

      Range
      27947044..27999326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (6) summary
      cd17710
      Location:98 → 178
      BRCT_PAXIP1_rpt2; second BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17711
      Location:595 → 676
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:853 → 927
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17714
      Location:13 → 87
      BRCT_PAXIP1_rpt1; first (N-terminal) BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:696 → 768
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:959 → 1049
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins

    2. XM_030254708.2 → XP_030110568.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353 → 434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611 → 685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454 → 526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717 → 807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins

    3. XM_030254709.2 → XP_030110569.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353 → 434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611 → 685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454 → 526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717 → 807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins

    4. XM_036165319.1 → XP_036021212.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353 → 434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611 → 685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454 → 526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717 → 807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins

    5. XM_036165320.1 → XP_036021213.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353 → 434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611 → 685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454 → 526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717 → 807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins

    6. XM_030254707.2 → XP_030110567.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353 → 434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611 → 685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454 → 526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717 → 807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins

    7. XM_036165321.1 → XP_036021214.1  PAX-interacting protein 1 isoform X2

      Conserved Domains (4) summary
      cd17711
      Location:353 → 434
      BRCT_PAXIP1_rpt3; third BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17712
      Location:611 → 685
      BRCT_PAXIP1_rpt5; fifth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd17730
      Location:454 → 526
      BRCT_PAXIP1_rpt4; fourth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
      cd18440
      Location:717 → 807
      BRCT_PAXIP1_rpt6; sixth BRCT domain of PAX-interacting protein 1 (PAXIP1) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NZQ4.1 GenPept UniProtKB/Swiss-Prot:Q6NZQ4

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