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FLASH GENE
Symbol PAX1 contributors: mct - updated : 01-12-2021
HGNC name paired box gene 1
HGNC id 8615
Corresponding disease
OTFCS2 otofaciocervical syndrome 2
Location 20p11.22      Physical location : 21.686.296 - 21.696.620
Synonym name paired domain gene HuP48
Synonym symbol(s) HUP48, OFC2
DNA
TYPE functioning gene
STRUCTURE 12.82 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - D20S5 - PAX1 - D20Z1 - D20S93 - qter
Authors Stapleton (93)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 5342 - 457 - 2021 32514824
5 - 5332 - 534 - 2021 32514824
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuterus   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text sclerotome
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a paired box homologous protein domain
  • an homeo domain, comprising two structurally distinct N terminal (NTS)and C terminal subdomains
  • a truncated helix-turn helix DNA binding domain
  • an octapeptide motif
    • HOMOLOGY
    intraspecies homolog to undulated
    Homologene
    FAMILY paired domain family of nuclear transcription activators
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • controlling chondrogenesis through SHH signaling
  • involved in in the formation of segmented structures of the embryo and development of vertebral column
  • is essential for development and function of the human thymus
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding (homeodomain)
    RNA
    small molecule
    protein
  • chondrocyte maturation driven by SOX9 is antagonized by PAX1 that is downregulated during chondrogenic differentiation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OTFCS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    cause a syndromic form of SCID due to altered thymus development
    constitutional     --low  
    in parathyroid adenomas, by hypermethylation in the promoter region
    Susceptibility to Klippel-Feil syndrome and other vertebral malformations
    Variant & Polymorphism SNP may be SNP increasing the risk of vertebral malformations
    Candidate gene
    Marker
  • detection of PAX1/SOX1/ZNF582 methylation status may serve as a promising biomarker for ESCC screening and diagnosis of Esophageal squamous cell carcinoma (ESCC)
  • for patients with high-grade cervical lesion and cervical cancer, the methylation level of PAX1/ZNF582 gene could be applied as a noteworthy biomarker for diagnosis
  • hypermethylated PAX1 and ZNF582 can sufficiently act as biomarkers to reflect the severity or progression of oral squamous cell carcinoma (OSCC)
  • testing PAX1 DNA methylation using oral swabs is a promising method for oral cancer detection
  • utility of PAX1 methylation as an auxiliary biomarker in cervical cancer screening
    • Therapy target
    ANIMAL & CELL MODELS