PAX7 paired box 7 [Homo sapiens (human)]
| Gene Symbol | PAX7 |
| Entrez Gene ID | 5081 |
| Full Name | paired box 7 |
| Synonyms | FLJ37460, HUP1, PAX7B, RMS2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
1 1p36.13 |
| Summary | 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]. |
| Disorder | MIM: 167410 Rhabdomyosarcoma 2, alveolar, 268220 (3) |
| mRNA | NM_001135254, 207029222 |
| Protein | NP_001128726, 207029223 |
| Product | paired box protein Pax-7 isoform 3 |
| RefSeq Status | REVIEWED |
| mRNA | NM_013945, 207029245 |
| Protein | NP_039236, 7524359 |
| Product | paired box protein Pax-7 isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_002584, 207029268 |
| Protein | NP_002575, 4505619 |
| Product | paired box protein Pax-7 isoform 1 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | PAX7 | NP_002575.1 |
| Pan troglodytes (chimpanzee) | PAX7 | XP_513156.2 |
| Canis lupus familiaris (dog) | PAX7 | XP_544533.2 |
| Bos taurus (cattle) | PAX7 | XP_616352.3 |
| Mus musculus (house mouse) | Pax7 | NP_035169.1 |
| Rattus norvegicus (Norway rat) | Pax7 | XP_575941.2 |
| Gallus gallus (chicken) | PAX7 | NP_990396.1 |
| Danio rerio (zebrafish) | pax7b | NP_001139621.1 |
| Danio rerio (zebrafish) | pax7a | NP_571400.1 |
| Drosophila melanogaster (fruit fly) | gsb-n | NP_523862.1 |
| ID | Name | Evidence |
| GO:0006351 | transcription, DNA-dependent | TAS |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0006916 | anti-apoptosis | TAS |
| GO:0007275 | multicellular organismal development | IEA |
| GO:0007519 | skeletal muscle tissue development | IEA |
| GO:0009653 | anatomical structure morphogenesis | TAS |
| GO:0014813 | satellite cell commitment | IEA |
| GO:0021527 | spinal cord association neuron differentiation | IEA |
| GO:0021904 | dorsal/ventral neural tube patterning | IEA |
| GO:0043403 | skeletal muscle tissue regeneration | IEA |
| GO:0048663 | neuron fate commitment | IEA |
| GO:0048706 | embryonic skeletal system development | IEA |
| GO:0051216 | cartilage development | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
Function
| ID | Name | Evidence |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0043565 | sequence-specific DNA binding | IEA |
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