PAXIP1 PAX interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAXIP1provided by HGNC
Official Full Name: PAX interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:8624
See related: Ensembl:ENSG00000157212 MIM:608254; AllianceGenome:HGNC:8624
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PTIP; TNRC2; CAGF28; CAGF29; PACIP1; PAXIP1L
Summary: This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 6.7), lymph node (RPKM 3.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (154943690..155003411, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (156118967..156178685, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (154735400..154794834, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
Title: Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.
Title: Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.
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.
PAXIP1 and 53BP1 protein levels followed gene expression results, i.e., are intrinsically correlated, and also reduced in more advanced breast cancer tumors.
Title: DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.
PAXIP1 is involved in sensitizing lung cancer cells to the WEE1 inhibitor AZD1775 in combination with platinum-based treatment.
Title: PAXIP1 Potentiates the Combination of WEE1 Inhibitor AZD1775 and Platinum Agents in Lung Cancer.
PTIP promotes double-strand break repair through a direct role in homologous recombination.
Title: PTIP promotes DNA double-strand break repair through homologous recombination.
PPM1B can dephosphorylate the Pax2 activation domain and displace the adaptor protein PTIP, thus inhibiting H3K4 methylation and gene activation.
Title: The Groucho-associated phosphatase PPM1B displaces Pax transactivation domain interacting protein (PTIP) to switch the transcription factor Pax2 from a transcriptional activator to a repressor.
uncovered a nuclease, Artemis, as a PTIP-binding protein
Title: PTIP associates with Artemis to dictate DNA repair pathway choice.
PITX2 and PTIP co-occupy the promoter of the PITX2's transcriptional target.
Title: PITX2 associates with PTIP-containing histone H3 lysine 4 methyltransferase complex.
Polyglutamine expansion AR sequesters PTIP to attenuate DNA repair and increase genomic instability.
Title: A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide interaction study of smoking and bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G60373 (e-PCR)
- UniSTS:137480

D11S2921 (e-PCR)
- UniSTS:152074

GDB:1317416 (e-PCR)
- UniSTS:76050

RH104026 (e-PCR)
- UniSTS:98351

RH45010 (e-PCR)
- UniSTS:78135

SHGC-52442 (e-PCR)
- UniSTS:6226

RH102010 (e-PCR)
- UniSTS:96344

STS-N51347 (e-PCR)
- UniSTS:8538

AFMB058WE5 (e-PCR)
- UniSTS:22876

G15998 (e-PCR)
- UniSTS:31583

G19213 (e-PCR)
- UniSTS:80538

RH48948 (e-PCR)
- UniSTS:55220

SHGC-36464 (e-PCR)
- UniSTS:63688

WI-18169 (e-PCR)
- UniSTS:52457

D7S2896 (e-PCR)
- UniSTS:23538

Gene Ontology Provided by GOA

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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IEA Inferred from Electronic Annotation more info
involved_in chorion development	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of isotype switching	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of isotype switching to IgG isotypes	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell cycle G2/M phase transition	IEA Inferred from Electronic Annotation more info
involved_in response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MLL3/4 complex	IDA Inferred from Direct Assay more info	PubMed
part_of MLL3/4 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
part_of histone methyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
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

General protein information

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Preferred Names: PAX-interacting protein 1

Names: PAX interacting (with transcription-activation domain) protein 1; PAX transcription activation domain interacting protein 1 like; protein encoded by CAG trinucleotide repeats

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.

Genomic

NG_023293.1 RefSeqGene

Range

4849..64283

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007349.4 → NP_031375.3 PAX-interacting protein 1

See identical proteins and their annotated locations for NP_031375.3

Status: REVIEWED

Source sequence(s)

AC093726, AK123600, BC033781, BQ222021, CR993144

Consensus CDS

CCDS47753.1

UniProtKB/Swiss-Prot

O15404, Q6N099, Q6ZW49, Q6ZWH9, Q7Z315, Q86UN0, Q8N4P9, Q96HP2

UniProtKB/TrEMBL

B4DEQ6

Related

ENSP00000384048.1, ENST00000404141.6

Conserved Domains (4) summary

smart00292
Location:970 → 1053

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:869 → 935

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:601 → 677

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:710 → 771

PTCB-BRCT; twin BRCT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

154943690..155003411 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515982.4 → XP_011514284.1 PAX-interacting protein 1 isoform X1

UniProtKB/TrEMBL

B4DEQ6

Conserved Domains (4) summary

smart00292
Location:944 → 1027

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:843 → 909

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:575 → 651

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12738
Location:684 → 745

PTCB-BRCT; twin BRCT domain
XM_047420059.1 → XP_047276015.1 PAX-interacting protein 1 isoform X4

Related

ENST00000473219.5
XM_047420058.1 → XP_047276014.1 PAX-interacting protein 1 isoform X3
XM_047420057.1 → XP_047276013.1 PAX-interacting protein 1 isoform X2