PAX1 (paired box 1)

2008-07-01  

Identity

HGNC
PAX1
LOCATION
20p11.22
LOCUSID
5075
ALIAS
HUP48,OFC2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125813ENST00000398485P15863
ENSG00000125813ENST00000444366P15863
ENSG00000125813ENST00000613128A0A087WXV5

Expression (GTEx)

0
1
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 IDYearTitleCitations
386647332024PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.0
386647332024PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.0
377769572023PAX1 expression in thymic epithelial neoplasms and morphologic mimics.0
384483752023High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients.0
377769572023PAX1 expression in thymic epithelial neoplasms and morphologic mimics.0
384483752023High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients.0
344531692022Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis.9
344531692022Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis.9
325148242021The application value of PAX1 and ZNF582 gene methylation in high grade intraepithelial lesion and cervical cancer.4
325148242021The application value of PAX1 and ZNF582 gene methylation in high grade intraepithelial lesion and cervical cancer.4
315899572020Association between dense PAX1 promoter methylation and HPV16 infection in cervical squamous epithelial neoplasms of Xin Jiang Uyghur and Han women.2
321116192020PAX1 is essential for development and function of the human thymus.44
322012382020Temporal and spatial expression of Sox9, Pax1, TGF-β1 and type I and II collagen in human intervertebral disc development.3
324282712020Hypermethylated PAX1 and ZNF582 genes in the tissue sample are associated with aggressive progression of oral squamous cell carcinoma.7
326166282020Real 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