PAX1 (paired box 1)

2008-07-01 Affiliation

Identity

HGNC

PAX1

LOCATION

20p11.22

LOCUSID

5075

ALIAS

HUP48,OFC2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5075
MIM: 167411
HGNC: 8615
Ensembl: ENSG00000125813

Variants:

dbSNP: 5075
ClinVar: 5075
TCGA: ENSG00000125813
COSMIC: PAX1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000125813	ENST00000398485	P15863
ENSG00000125813	ENST00000444366	P15863
ENSG00000125813	ENST00000613128	A0A087WXV5

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
38664733	2024	PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.	0
38664733	2024	PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.	0
37776957	2023	PAX1 expression in thymic epithelial neoplasms and morphologic mimics.	0
38448375	2023	High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients.	0
37776957	2023	PAX1 expression in thymic epithelial neoplasms and morphologic mimics.	0
38448375	2023	High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients.	0
34453169	2022	Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis.	9
34453169	2022	Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis.	9
32514824	2021	The application value of PAX1 and ZNF582 gene methylation in high grade intraepithelial lesion and cervical cancer.	4
32514824	2021	The application value of PAX1 and ZNF582 gene methylation in high grade intraepithelial lesion and cervical cancer.	4
31589957	2020	Association between dense PAX1 promoter methylation and HPV16 infection in cervical squamous epithelial neoplasms of Xin Jiang Uyghur and Han women.	2
32111619	2020	PAX1 is essential for development and function of the human thymus.	44
32201238	2020	Temporal and spatial expression of Sox9, Pax1, TGF-β1 and type I and II collagen in human intervertebral disc development.	3
32428271	2020	Hypermethylated PAX1 and ZNF582 genes in the tissue sample are associated with aggressive progression of oral squamous cell carcinoma.	7
32616628	2020	Real time quantitative methylation detection of PAX1 gene in cervical cancer screening.	5

Citation

Dessen P

PAX1 (paired box 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50224/js/lib/cancer-prone-explorer/teaching-explorer/