Biomarker: PAX1

Histology type: endometrial carcinoma

Country: Taiwan

Region: Taipei

Followed up time :

Subgroup 1 name : PAX1 low

Subgroup 1 number: 61

Subgroup 2 name: PAX1 high

Subgroup 2 number: 34

Conclusion: PAX1 protein expression is a potential histopathology biomarker for the differential diagnosis of malignant and premalignant endometrial lesions. PAX1 is also a potential prognostic marker in cases of EC.

Sample type : tissue

Sample method: immunohistochemistry

Expression pattern : high expression

Expression elevation: PAX1 intensity in individual tumor cells was scored as 0 (no staining), 1+ (weak intensity), 2+ (moderate intensity), or 3+ (strongest intensity), and the percentage of cells with PAX1 staining at each intensity was estimated from 0 to 100. For semiquantitative analysis of PAX1 production, the absolute PAX score was calculated by multiplying the estimated percentage of stained cells at each intensity by the corresponding intensity value, which produced an immunostaining score from 0 to 300. To compare absolute PAX scores between different endometrial lesions, the optimal cut-off value of PAX1 score was determined using a receiver operating characteristic curve. PAX1low was defined as a score from 0 to 119 and PAX1high was defined as a score from 120 to 300.

Statictics: Median;Mean (SD)

Subgroup 1 age: 61;55.44 ±1.55

Subgroup 2 age: 24;58.29 ±2.13

Funtion Uniprot: This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity).

UniProt ID: P15863

UniProt Link: https://www.uniprot.org/uniprotkb/P15863/entry

Biological function from UniProt: Transcription, Transcription regulation

Molecular function from UniProt:

Subcellular UniProt: #Nucleus

Alternative name from UniProt:

Recommended name: Paired box protein Pax-1

Gene name from HGNC: PAX1

HPA class: Disease related genes Human disease related genes Transcription factors

AlphaFold DB: P15863

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P15863

HPA link: https://www.proteinatlas.org/ENSG00000125813-PAX1

Tissue specificity RNA from HPA: Tissue enriched (parathyroid gland)

Single cell type specificity Cell type enriched (Skeletal myocytes)

Immune cell specificity: Not detected in immune cells

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000125813-PAX1/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000125813-PAX1/pathology/endometrial+cancer

Phenotype ID: 615560

Disease: Otofaciocervical syndrome 2, with T-cell deficiency (OTFCS2)

Note1: The disease is caused by variants affecting the gene represented in this entry

OMIM: 167411

OMIM link1: https://www.omim.org/entry/615560

OMIM link2: https://www.omim.org/entry/167411

HGNC ID: HGNC:8615

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8615