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🧬 基因注释:PGK1

📝 官方信息

官方名称:phosphoglycerate kinase 1

功能摘要:The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014].

🎯 作为靶基因的剪接因子
  • RBFOX2 综合评分: 0.474 · 证据 2 条
  • Srsf3 综合评分: 0.444 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPK 综合评分: 0.398 · 证据 2 条
  • PTBP1 综合评分: 0.398 · 证据 2 条
  • HNRNPL 综合评分: 0.362 · 证据 2 条
  • SRSF9 综合评分: 0.362 · 证据 1 条
  • CELF2 综合评分: 0.356 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 条
  • RBM22 综合评分: 0.312 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • SRSF2 综合评分: 0.300 · 证据 1 条
🏥 关联疾病

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