Human Gene PAX7 (ENST00000420770.7) from GENCODE V43
Description: Homo sapiens paired box 7 (PAX7), transcript variant 3, mRNA. (from RefSeq NM_001135254) RefSeq Summary (NM_001135254): This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. Gencode Transcript: ENST00000420770.7 Gencode Gene: ENSG00000009709.12 Transcript (Including UTRs) Position: hg38 chr1:18,630,846-18,748,866 Size: 118,021 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr1:18,631,604-18,744,929 Size: 113,326 Coding Exon Count: 9
ID:PAX7_HUMAN DESCRIPTION: RecName: Full=Paired box protein Pax-7; AltName: Full=HuP1; FUNCTION: Probable transcription factor. May have a role in myogenesis. SUBUNIT: Can bind to DNA as a heterodimer with PAX3. Interacts with DAXX. SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in PAX7 are a cause of rhabdomyosarcoma type 2 (RMS2) [MIM:268220]. It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator. SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SIMILARITY: Contains 1 paired domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P23759
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
