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PAXX - PAXX non-homologous end joining factor Gene

Also Known as XLS; C9orf142

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 286257

About PAXX

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,992,422-136,993,976 (from NCBI)

This gene has 8 transcripts (splice variants) and 135 orthologues. Ubiquitous expression in spleen (RPKM 25.7), lymph node (RPKM 14.9) and 25 other tissues.

Summary

The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]

PAXX Products (2)

mRNA	Protein	Name
NM_001329678.2	NP_001316607.1	protein PAXX isoform 1
NM_183241.3	NP_899064.1	protein PAXX isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables DNA polymerase binding	IPI IPI: Inferred from physical interaction	30250067	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25574025	GOA
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	25670504	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25574025	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	25574025	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	25574025	GOA
involved in double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	30250067	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	25574025	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of Ku70:Ku80 complex	IDA IDA: Inferred from direct assay	25670504	GOA
part of nonhomologous end joining complex	IDA IDA: Inferred from direct assay	25670504	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25574025	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	25670504	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

PAXX Protein Structure

PAXX

0
100
204 a.a.

Protein Preferred Names	Protein Names
protein PAXX	XRCC4-like small protein

PAXX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	PAXX	Q9BUH6	XRCC5	Homo sapiens	P13010	Anti Tag CoIP	31548606
Intra	PAXX	Q9BUH6	OPTN	Homo sapiens	Q96CV9	Y2H Array	32814053
Intra	PAXX	Q9BUH6	OPTN	Homo sapiens	Q96CV9	Validated Y2H	32814053
Intra	PAXX	Q9BUH6	OPTN	Homo sapiens	Q96CV9	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Severe Combined Immunodeficiency, Athabascan Type Severe Combined Immunodeficiency Due To Dclre1c Deficiency Rs-Scid Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation Scid Due To Artemis Deficiency Scid Due To Dclre1c Deficiency Scid, Athabascan Type Scid, Athabaskan Type Severe Combined Immunodeficiency Due To Artemis Deficiency Severe Combined Immunodeficiency, Athabaskan Type SCIDA Severe Combined Immunodeficiency, Athabascan-Type Artemis Deficiency Severe Combined Immunodeficiency Athabaskan Type Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation RSSCID Athabascan Scid Immunodeficiency, Severe Combined, Athabascan Type Severe Combined Immunodeficiency, Athabaskan-Type
Lig4 Syndrome	Dna Ligase Iv Deficiency Ligase 4 Syndrome LIG4S
Developmental And Epileptic Encephalopathy 54	DEE54 Epileptic Encephalopathy, Early Infantile, 54 Eiee54 Developmental And Epileptic Encephalopathy, 54 Early Infantile Epileptic Encephalopathy 54 Encephalopathy, Epileptic, Early Infantile, Type 54
Immunodeficiency With Hyper-Igm, Type 5	HIGM5 Hyper-Igm Syndrome 5 Immunodeficiency With Hyper Igm Type 5 Hyper-Igm Syndrome Type 5 Hyper-Igm Syndrome Due To Ung Deficiency Hyper-Igm Syndrome Due To Uracil N-Glycosylase Immunodeficiency With Hyper Igm, Type 5 Hyper Igm Syndrome 5 Immunodeficiency With Hyper-Igm 5 Hyper-Igm Immunodeficiency Type 5 Immunodeficiency, With Hyper Igm, Type 5 Hyper-Igm Immunodeficiency Syndrome, Type 5
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10099	PAXX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAXX	RGD	RGD:1306215
Canis familiaris	PAXX	VGNC	VGNC:44283
Bos taurus	PAXX	VGNC	VGNC:32603
Macaca mulatta	PAXX	VGNC	VGNC:75686
Mus musculus	PAXX	MGD	MGI:2442831
Felis catus	PAXX	VGNC	VGNC:64052
Others	PAXX	NCBI