PAXIP1 (PAX interacting protein 1)

Gene

• Entrez ID: 22976
• Gene name: PAX interacting protein 1
• Gene symbol: PAXIP1
• Synonyms (NCBI Gene): CAGF28, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2
• Chromosome: 7
• Chromosome location: 7q36.2
• 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 t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028345	hsa-miR-32-5p	Sequencing	20371350
MIRT042768	hsa-miR-339-5p	CLASH	23622248
MIRT1215579	hsa-miR-1303	CLIP-seq
MIRT1215580	hsa-miR-299-3p	CLIP-seq
MIRT1215581	hsa-miR-3143	CLIP-seq
MIRT1215582	hsa-miR-3671	CLIP-seq
MIRT1215583	hsa-miR-4265	CLIP-seq
MIRT1215584	hsa-miR-4296	CLIP-seq
MIRT1215585	hsa-miR-4322	CLIP-seq
MIRT1215586	hsa-miR-4417	CLIP-seq
MIRT1215587	hsa-miR-4437	CLIP-seq
MIRT1215588	hsa-miR-4674	CLIP-seq
MIRT1215589	hsa-miR-4762-5p	CLIP-seq
MIRT1215590	hsa-miR-548aa	CLIP-seq
MIRT1215591	hsa-miR-607	CLIP-seq
MIRT2062036	hsa-miR-3163	CLIP-seq
MIRT1215586	hsa-miR-4417	CLIP-seq
MIRT2290549	hsa-miR-132	CLIP-seq
MIRT2290550	hsa-miR-1324	CLIP-seq
MIRT2290551	hsa-miR-194	CLIP-seq
MIRT2290552	hsa-miR-212	CLIP-seq
MIRT2290553	hsa-miR-3177-3p	CLIP-seq
MIRT2290554	hsa-miR-3194-5p	CLIP-seq
MIRT2290555	hsa-miR-3616-5p	CLIP-seq
MIRT2290556	hsa-miR-3647-5p	CLIP-seq
MIRT2290557	hsa-miR-4433	CLIP-seq
MIRT2290558	hsa-miR-4722-5p	CLIP-seq
MIRT1215590	hsa-miR-548aa	CLIP-seq
MIRT2290559	hsa-miR-573	CLIP-seq
MIRT2290560	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001570	Process	Vasculogenesis	IEA
GO:0005515	Function	Protein binding	IPI	11940591, 15456759, 17178841, 17500065, 17925232, 19124460, 22064073, 24981860, 25416956, 27705803, 28514442, 32814053, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15456759, 17690115
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006338	Process	Chromatin remodeling	IDA	17178841
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0010212	Process	Response to ionizing radiation	IDA	15456759
GO:0016363	Component	Nuclear matrix	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IMP	15456759, 17690115
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	ISS
GO:0035097	Component	Histone methyltransferase complex	IDA	17925232
GO:0035097	Component	Histone methyltransferase complex	IEA
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IMP	11940591
GO:0043542	Process	Endothelial cell migration	IEA
GO:0044666	Component	MLL3/4 complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IPI	23508102
GO:0045830	Process	Positive regulation of isotype switching	IEA
GO:0045830	Process	Positive regulation of isotype switching	ISS
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IBA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IMP	17925232
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	ISS
GO:0060612	Process	Adipose tissue development	IEA
GO:0060717	Process	Chorion development	IEA
GO:1902749	Process	Regulation of cell cycle G2/M phase transition	IEA

Other IDs

• MIM: 608254
• HGNC: 8624
• e!Ensembl: ENSG00000157212

Protein

• UniProt ID: Q6ZW49
• Protein name: PAX-interacting protein 1 (PAX transactivation activation domain-interacting protein)
• Protein function: Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown
• PDB: 3SQD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12738	PTCB-BRCT	102 → 165	twin BRCT domain	Family
  PF00533	BRCT	601 → 681	BRCA1 C Terminus (BRCT) domain	Family
  PF00533	BRCT	701 → 776	BRCA1 C Terminus (BRCT) domain	Family
  PF00533	BRCT	868 → 934	BRCA1 C Terminus (BRCT) domain	Family

• Sequence:

  MSDQAPKVPEEMFREVKYYAVGDIDPQVIQLLKAGKAKEVSYNALASHIISEDGDNPEVG
  EAREVFDLPVVKPSWVILSVQCGTLLPVNGFSPESCQIFFGITACLSQVSSEDRSALWAL
  VTFYGGDCQLTLNKKCTHLIVPEPKGEKYECALKRASIKIVTPDWVLDCVSEKTKKDEAF
  YHPRLIIYEEEEEEEEEEEEVENEEQDSQNEGSTDEKSSPASSQEGSPSGDQQFSPKSNT
  EKSKGELMFDDSSDSSPEKQERNLNWTPAEVPQLAAAKRRLPQGKEPGLINLCANVPPVP
  GNILPPEVRGNLMAAGQNLQSSERSEMIATWSPAVRTLRNITNNADIQQMNRPSNVAHIL
  QTLSAPTKNLEQQVNHSQQGHTNANAVLFSQVKVTPETHMLQQQQQAQQQQQQHPVLHLQ
  PQQIMQLQQQQQQQISQQPYPQQPPHPFSQQQQQQQQAHPHQFSQQQLQFPQQQLHPPQQ
  LHRPQQQLQPFQQQHALQQQFHQLQQHQLQQQQLAQLQQQHSLLQQQQQQQIQQQQLQRM
  HQQQQQQQMQSQTAPHLSQTSQALQHQVPPQQPPQQQQQQQPPPSPQQHQLFGHDPAVEI
  PEEGFLLGCVFAIADYPEQMSDKQLLATWKRIIQAHGGTVDPTFTSRCTHLLCESQVSSA
  YAQAIRERKRCVTAHWLNTVLKKKKMVPPHRALHFPVAFPPGGKPCSQHIISVTGFVDSD
  RDDLKLMAYLAGAKYTGYLCRSNTVLICKEPTGLKYEKAKEWRIPCVNAQWLGDILLGNF
  EALRQIQYSRYTAFSLQDPFAPTQHLVLNLLDAWRVPLKVSAELLMSIRLPPKLKQNEVA
  NVQPSSKRARIEDVPPPTKKLTPELTPFVLFTGFEPVQVQQYIKKLYILGGEVAESAQKC
  THLIASKVTRTVKFLTAISVVKHIVTPEWLEECFRCQKFIDEQNYILRDAEAEVLFSFSL
  EESLKRAHVSPLFKAKYFYITPGICPSLSTMKAIVECAGGKVLSKQPSFRKLMEHKQNSS
  LSEIILISCENDLHLCREYFARGIDVHNAEFVLTGVLTQTLDYESYKFN

• Sequence length: 1069

Pathways

Reactome:

Nonhomologous End-Joining (NHEJ)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	16175510, 30831521	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	28475402, 38244928	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	38248871	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Associate	36468602	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	35902970	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	35194111	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	38255949	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	34560403	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Associate	30450722	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Associate	32321919	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	27196765	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	37582104	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	37225681	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	28475402, 37225681	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	34108034	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	34108034, 37582104	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Associate	30450722	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	37225681	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Associate	25706306	★☆☆☆☆ Found in Text Mining only