PAXIP1 (PAX interacting protein 1)

2011-02-01  

Identity

HGNC
PAXIP1
LOCATION
7q36.2
LOCUSID
22976
ALIAS
CAGF28,CAGF29,PACIP1,PAXIP1L,PTIP,TNRC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22976
MIM: 608254
HGNC: 8624
Ensembl: ENSG00000157212

Variants:

dbSNP: 22976
ClinVar: 22976
TCGA: ENSG00000157212
COSMIC: PAXIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157212ENST00000397192Q6ZW49
ENSG00000157212ENST00000404141Q6ZW49
ENSG00000157212ENST00000419436H7BZI8
ENSG00000157212ENST00000457196F8WC23

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382449282024Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.4
382449282024Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.4
353540422022PTIP governs NAD(+) metabolism by regulating CD38 expression to drive macrophage inflammation.3
357689062022Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.1
353540422022PTIP governs NAD(+) metabolism by regulating CD38 expression to drive macrophage inflammation.3
357689062022Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.1
284754022017DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.13
284754022017DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.13
271967652016PAXIP1 Potentiates the Combination of WEE1 Inhibitor AZD1775 and Platinum Agents in Lung Cancer.15
271967652016PAXIP1 Potentiates the Combination of WEE1 Inhibitor AZD1775 and Platinum Agents in Lung Cancer.15
256310482015The Groucho-associated phosphatase PPM1B displaces Pax transactivation domain interacting protein (PTIP) to switch the transcription factor Pax2 from a transcriptional activator to a repressor.15
256310482015The Groucho-associated phosphatase PPM1B displaces Pax transactivation domain interacting protein (PTIP) to switch the transcription factor Pax2 from a transcriptional activator to a repressor.15
244865442014PITX2 associates with PTIP-containing histone H3 lysine 4 methyltransferase complex.5
255125572014PTIP associates with Artemis to dictate DNA repair pathway choice.73
244865442014PITX2 associates with PTIP-containing histone H3 lysine 4 methyltransferase complex.5

Citation

Dessen P

PAXIP1 (PAX interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/gene/52076/gene-fusions/case-report-explorer/img/logo-atlas-4.svg