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

Gene ID: 55982, updated on 27-Nov-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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