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

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 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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Ptip is essential for tooth development via regulating Wnt pathway.
Title: Ptip is essential for tooth development via regulating Wnt pathway.
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.
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.
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.
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.
PTIP Deficiency in B Lymphocytes Reduces Subcutaneous Fat Deposition in Mice.
Title: PTIP Deficiency in B Lymphocytes Reduces Subcutaneous Fat Deposition in Mice.
Regeneration after acute kidney injury requires PTIP-mediated epigenetic modifications.
Title: Regeneration after acute kidney injury requires PTIP-mediated epigenetic modifications.
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.
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)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

27947044..27999326 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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