🧬 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].
- EIF4A3 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- MBNL1 置信度: 2.0
- PABPC4 置信度: 2.0
- RBM15 置信度: 2.0
- RBM22 置信度: 2.0
- AQR 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm5 置信度: 1.0
- Rbm7 置信度: 1.0
- Rnps1 置信度: 1.0
- SF3A3 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
- Tardbp 置信度: 1.0
- U2af1 置信度: 1.0
该基因暂无关联疾病记录