🧬 基因注释：ACY1

官方名称：aminoacylase 1

功能摘要：This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010].

• HNRNPA1 综合评分: 0.412 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• PCBP2 综合评分: 0.262 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• RBM22 综合评分: 0.250 · 证据 2 条
• AQR 综合评分: 0.212 · 证据 1 条
• SF3A3 综合评分: 0.200 · 证据 1 条
• PABPC4 综合评分: 0.150 · 证据 2 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• EIF4A3 综合评分: 0.100 · 证据 2 条
• Rbm5 综合评分: 0.100 · 证据 1 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• Rnps1 综合评分: 0.100 · 证据 1 条

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