PAXIP1 - PAX interacting protein 1 Gene

Homo sapiens

Also known as PTIP; TNRC2; CAGF28; CAGF29; PACIP1; PAXIP1L

Gene ID: 22976 | Gene type: protein coding

About PAXIP1

Cytogenetic location: 7q36.2 Genomic coordinates (GRCh38): 7:154,943,690-155,003,411 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 6.7), lymph node (RPKM 3.6) and 25 other tissues.

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]

PAXIP1 Products(1)

mRNA	Protein	Name
NM_007349.4	NP_031375.3	PAX-interacting protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11940591	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response, signal transduction by p53 class mediator	IMP IMP: Inferred from mutant phenotype	15456759	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	17178841	GOA
involved in negative regulation of DNA-binding transcription factor activity	IMP IMP: Inferred from mutant phenotype	11940591	GOA
involved in positive regulation of transcription initiation by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17925232	GOA
involved in response to ionizing radiation	IDA IDA: Inferred from direct assay	15456759	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MLL3/4 complex	IDA IDA: Inferred from direct assay	17500065	GOA
part of MLL3/4 complex	IPI IPI: Inferred from physical interaction	23508102	GOA
part of histone methyltransferase complex	IDA IDA: Inferred from direct assay	17925232	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15456759	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PAXIP1 Protein Structure

PTCB-BRCT

BRCT

PTCB-BRCT

BRCT

0
200
400
600
800
1000
1069 a.a.

Protein Preferred Names

Protein Names

PAX-interacting protein 1

PAX interacting (with transcription-activation domain) protein 1

PAXIP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PAXIP1	Q6ZW49	PAGR1	Homo sapiens	Q9BTK6	Anti Bait CoIP	19124460
Intra	PAXIP1	Q6ZW49	PAGR1	Homo sapiens	Q9BTK6	Anti Bait CoIP	17178841
Intra	PAXIP1	Q6ZW49	PAGR1	Homo sapiens	Q9BTK6	GMS	19124460
Intra	PAXIP1	Q6ZW49	TP53BP1	Homo sapiens	Q12888	Pull Down	14576432
Intra	PAXIP1	Q6ZW49	TP53BP1	Homo sapiens	Q12888	Anti Bait CoIP	15456759
Intra	PAXIP1	Q6ZW49	ASH2L	Homo sapiens	Q9UBL3	Anti Bait CoIP	17178841
Intra	PAXIP1	Q6ZW49	ASH2L	Homo sapiens	Q9UBL3	Anti Bait CoIP	17500065
Intra	PAXIP1	Q6ZW49	ASH2L	Homo sapiens	Q9UBL3	Anti Bait CoIP	17925232
Intra	PAXIP1	Q6ZW49	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17178841
Intra	PAXIP1	Q6ZW49	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17925232
Intra	PAXIP1	Q6ZW49	RBBP5	Homo sapiens	Q15291	Anti Bait CoIP	17178841
Intra	PAXIP1	Q6ZW49	RBBP5	Homo sapiens	Q15291	Anti Bait CoIP	17500065
Intra	PAXIP1	Q6ZW49	RBBP5	Homo sapiens	Q15291	Anti Bait CoIP	17925232

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10098	PAXIP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAXIP1	RGD	RGD:1307547
Canis familiaris	PAXIP1	VGNC	VGNC:44282
Mus musculus	PAXIP1	MGD	MGI:1890430
Bos taurus	PAXIP1	VGNC	VGNC:32602
Macaca mulatta	PAXIP1	VGNC	VGNC:75769
Felis catus	PAXIP1	VGNC	VGNC:68704

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