Details for gene: ACY1


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]


Symbol
ACY1
Name
aminoacylase 1
Entrez ID
95
Ensembl ID
ENSG00000243989    (more details)
KEGG ID
hsa:95    (more details)
OMIM ID
609924
Uniprot ID
V9HWA0  
GO ID
hsa:95    (more details)
Chromosome
3
Strand
1
Start
51983340
End
51989197
miRNA Interactions
hsa-miR-183-5p (RPM: 37556.6894) / hsa-miR-96-5p (RPM: 1417.2834) / hsa-miR-450b-3p (RPM: 0.0026) / hsa-miR-4688 (RPM: 0.1118) / hsa-miR-92a-1-5p (RPM: 8.113) / hsa-miR-1229-3p (RPM: 1.3764) / hsa-miR-5187-5p (RPM: 0.1354) / hsa-miR-671-5p (RPM: 10.1036) / hsa-miR-769-3p (RPM: 3.6276) / hsa-miR-212-5p (RPM: 3.5846) / hsa-miR-1271-5p (RPM: 29.1658) / hsa-miR-155-5p (RPM: 106.9134) / hsa-miR-5089-5p (RPM: 0.0026) / hsa-miR-3189-3p (RPM: 0.0248) / hsa-miR-6764-5p (RPM: 0.111) / hsa-miR-6728-5p (RPM: 0.0148) / hsa-miR-6743-5p (RPM: 0.0158) / hsa-miR-6513-5p (RPM: 0.1884) / hsa-miR-6828-5p (RPM: 0.0008) /
Involved Diseases
retinoblastoma /
Involved Pathways
Metabolic pathways / Biosynthesis of amino acids / Arginine biosynthesis / 2-Oxocarboxylic acid metabolism / Disease / Metabolism / Biological oxidations / Diseases of metabolism / Metabolic disorders of biological oxidation enzymes / Aflatoxin activation and detoxification / Defective ACY1 causes encephalopathy /
Sequence
AGTAATCTCGCTGAGGCCCGAACCAGAGGCGGGCGGGGACATCCGCGCCGACGCGGCCGCTGGCGCCGGGACGGCCCTCACTGACGGTCTTCGGTCTCCGCCCCGACATCCGGCCTCGGCCACGTGGTGGGCGGACCGGGGCGGTCCTGAGCCTGCGACCTCGCAGGCGACCTCGCTGGACCCTAAGTCCAGGCCACAGTCAGGGAAGGGCGCTGAGAGGCGAGCGTGAGCCCAGCGACAGGAGAGTGAGGTGGGGGCCCTGGGGAGGGATAGAGGGACTGGGGCTCCGTGGCTTGAAAGCCGGGCAACTGGGAGGCGTTGGGGTTTTTCTTGTTTGTTTTTTGTTTTTGTTTTTGCCTTTTTTTTTTTTTAGGAGGGCGGGGGGAGTACAAGTCTGGGTTCAAACCTTGCTCAGCTACTCTATGAGCTGTCCTTGAACCTCTCTGAGCCTCTCAGCTTTCTCCTCTGTAAAGTGGGCATTCTGAGCACAAACTTCATGGGGCTCTTTTGGGGATTAAATAAGGAAATGTGCTGGAAGCAGACAGCCCAGCGCCTGAAACAGAATGGGTGCTCCTTAATGGGGGCTCCGAAACACGGTATCCTACCCCTGTGGGAAGTCCGGGAGCCGCCGTGGGGACAGGCTGTGTGCAGGAGCTCACCATTTCCAGGGTCTTGGAGGGGTAGTTAGCCATTCACTTTGCCCCCAGCTCACCACGCGCAGCGCCATGACCAGCAAGGGTCCCGAGGAGGAGCACCCATCGGTGACGCTCTTCCGCCAGTACCTGCGTATCCGCACTGTCCAGCCCAAGCCTGACTATGGTGAGAAGACGGTGGTTCCAGAGCCTGTGACGGGGCCTAAGGGACGGGGACTGTGCTCTAAACCAGCCTCCAACCCCTGTCACCCAGCTGAGCCCCACTCTGCTGTCCCAAATGGCTCCCCAACCCCTCCAGCCATTCCCCAAGTAAATAGACTGAGGCAGCCCCTCCAGGTTAGGGAGGAACCCTTTCCCCAGAGACTCTGCTGCTGACCAAGGTTACTCCTGGCAGCTGGTTAAAGAAAAACTTCACCTCACTCTCCAGGGCAGGAGTGGTGGGGGAAGCCTGAGGCAGCCACAGGGAAAGGAGAGGCCCTCCAGAAGCCCACTGGGGCTGGACAAAGGCCACAGCCCTTAGGGAGTCAAGCTTGGTGGCTAGGGCCTGGGAGGTGGCTCCTGCCTGTTATCCCAGCACTTCAGGAGGTTGAGGCTGGCAGATTGCTTGGGCCCAGGAGTTCAAGACTAGCTTGAGCAACATGGCAAGACTCTGTCTCTACAGAAAAAATACAAAAATTAGTCAGGAATGGTGGCACACCTGTAGTCCCAGCTACTCCAGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGAGATCGCACCACTTCACTCCTGCCTTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAAAAAAAACTTAGTGGCTGGGAATTGTGTACATGGGTCCAAATTCCTCCTCTGTGATTAATCAGCTGAGAGATGGTGGGTGAATCTCTTCATGTCTCTGTGCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAAAGTAGAGGTGAGCCTGGGGCCCTAAGCGGGGAAGGGAGGTGGGCCTGGGCACTTCCTCACCCTGCTCAGACCACCTACCCTCCTGACCATCTCCAGGTGGCACCTGGCTATGTGGTGACCGTGTTGACCTGGCCAGGCACCAACCCTACACTCTCCTCCATCTTGCTCAACTCCCACACGGATGTGGTGCCTGTCTTCAAGGTGTGTAAGGGGCTGGGGAGGTGGGCAGTGCAGGCCTTGGGGACAGACATGATGCAGACCCCAGGATTCAACCTCAAGTTGCTCATGGTCCTGGCCCCAGTCCTGACACTAACTCTCAACATCCTTATGACATTACACCACTCAAGCAGCCTTCATCCAGCAGCAAGTTCTGGGCCAGAGTGGGGTGGGGACTGGGGGGTGGGAAGCAGGAGACAGCAATGGGGGATGGCAATCAGCTGCCTTCTTCAGCCCCCGTCTTTCCTCTCCCACCACTCCACCTGTCACTCCAACCCTATGGTGGGCTCCTAGGGCAGGGCCACTGTTGACCAGAGTGGATTAATGGCTAAATTTGGGGTTTGGGCCCCTCTTCCCATCCCTGCCCCCAGGAACATTGGAGTCACGACCCCTTTGAGGCCTTCAAGGATTCTGAGGGCTACATCTATGCCAGGGGTGCCCAGGACATGAAGTGCGTCAGCATCCAGTGAGTGTCCTCCATTCCTACTCCTCCACAATGTCCCCACTGGTCCAGTGGATTGAAGCAGGACCTGAGGGGGTGATTGGAGAAACTCAAGGCCAAGGAACACCGTGACCTCTTGGACAGGAACTACTGCCATGACCATTGCATGGATAGGGAGATTCAGACCAGAGAGGGGCAGGGACTTTCTGGAGTCCCTATCAGGGTGTGGCAGGGTAAAGTCCAGGACACAGGACTCCAGCCTGCTGGCCCTGCCTGTGGGGCCAGCCTGCGCATCTGGTGGCTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTGGTAGGAGTGGCTCAGATACCTTTGGGAAAGGGGAGGGTGGGGCGGGGCAGCCTCCTCATCTCACGTCCCTGCTGCTTTTACAGATGAGGAGGTTGGGGGTCACCAAGGCATGGAGCTGTTCGTGCAGCGGCCTGAGTTCCACGCCCTGAGGGCAGGCTTTGCCCTGGATGAGGGTGAGCAGGTTGGCAAGCCAATGAGCAGCCAGGCAGGGAGTAGGAGGCTGCTAGTGGGGACTGAGCTGCTCCACCCTCTGAACCCCCTTTCCCTCCTCAGGCATAGCCAATCCCACTGATGCCTTCACTGTCTTTTATAGTGAGCGGAGTCCCTGGTGTAAGTATGAGCTTGGAGGGAGGGCTCACTCTACAGGCGGGAGGCTAGGCCAGAAAGGGCACGGTCCTATGCAGGGTTGCACAGCAAAGTTGAGGCCTGAGAAGGCCTTGAACCCAGGGCCTCTACCTCCCAGCTCTTTCCTATCTGAGCTTCTCTGAGGGCAAGCCCTGAATGGGCAGAAACCAGCTGTATGCTACGGGCCCTGAGTGGGGACAGGACCCTGCCAGAGGAGCCTGGAATGAGGGGGAGACCTGGGCCCACCCCAGGCTGATTGTGTCTCCAGCCCCTCAGGCTGAAGACACTGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGGCCAGGCCATGCCTCACGCTTCATGGAGGACACAGCAGCAGAGAAGCTGGTACGTGGCACCCCAGGAGGGAGTCTGGGAGTTCAGGAGGCTCTATCCTGAGGCCACTGTCCCATTTAACCTCATATTCTCATAGCACAAGGTTGTAAACTCCATCCTGGCATTCCGGGAGAAGGAATGGCAGAGGTGAGGCAGCCTGGGAGGCAGTGGGGTGGCTCTGGGAGGCGGTACCACAGAGGATAGAGTCTGAGCCACCTCTTTTATCTGTTGCTGCCGCTACCCTGCCCCCACACCACAGGCTGCAGTCAAACCCCCACCTGAAAGAGGGGTCCGTGACCTCCGTGAACCTGACTAAGCTAGAGGGTGGCGTGGCCTATAACGTGATACCTGCCACCATGAGCGCCAGCTTTGACTTCCGTGTGGCACCGGATGTGGACTTCAAGGTGCCACCTCCACCTGGGTTTGGAGGAGGGATCCTGGGTCCTCAGTCTTGTCCTAGAGGCCTCTGGAAAGCCTGAAGGATCAGCTCGTCTCCCTTCTCTTAGGCTTTTGAGGAGCAGCTGCAGAGCTGGTGCCAGGCAGCTGGCGAGGGGGTCACCCTAGAGTTTGCTCAGGTATGGACTTGGGACATGTGATGGGAGAGTGTGGGAGCCGGGGGAGACCCAAGTGTGCAACAGTGGAGTGTGTGCTTGGTGTGTCTGCATATGTCTGGGCATTTCTTTATCTGTGACAGACACATTTTATTCCAACAAGCATTCATTGTAGAGGCCACTGTGGGTGCTGGGGAATGCTGTGGGGAGTAAAATTAGGCACAGTTCATGCCCTTGTATGGTGAAACGGGGAGATATAAATCAAACATTTATGTGATATTACTTTTTTCTGAGAGAATCTCACTCCGTCACCCAGGCTGCAGTGCAGTGGCACAATCTCGGCTCACCTCCGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCAGAGTAGTTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCGCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCGTACTTTCATATAACCCATGTGGTACAGGAAAGGGTGGCCCCTTGCACTCTGAAAACCTGTAACTGGAGTATCCAACTAGTCTGAGAGGTCTGGGGGAGCCATCTTGAGGAAGGGGCACTTGGGCTAGGATCTGAAGGATGGACAGGAGGTAAGTAGACGGAGGGTGGGAAGGTCCCAGACCTAGGACATTTGAGGGGCTGAAAGAGGACCTGTGGCTGGACTGGCTACCCAGATGTCTGGGTAGGTGAAGGAGTGGGGGTGGGGAGGTGTTATGTACTAGGCACAGCCCACTCTATGGGAAATAGGGCAAGATGCCCAGGCCCATGTCCTGATCCTGCCATTCTTCCTGTCCCTCAGAAGTGGATGCACCCCCAAGTGACACCTACTGATGACTCAAACCCTTGGTGGGCAGCTTTTAGCCGGGTCTGCAAGGATATGTGAGCACGCTGGCCAGCTCTCCTCACAGCCCAGCCCCCTACTCCTCTCCTTCCTGCTGCCCCCTCCCTTCTCCCTCCTTCTCCCACCTCTTTCCCACCTTCCTTTGCCCCTTCAATTCTTCGCTTTCTCCCTCCCCATTCATCAGGCTCTTTCTCCTACAGGAACCTCACTCTGGAGCCTGAGATCATGCCTGCTGCCACTGACAACCGCTATATCCGCGCGGTGAGCCACTTGCATATAGTGCCTGGGCAGTGGACTGGGCCTGAGTGCTGGCTTTTCCCTAACGGCTCTTCCTCACCCCTGCAGGTGGGGGTCCCAGCTCTAGGCTTCTCACCCATGAACCGCACACCTGTGCTGCTGCACGACCACGATGAACGGCTGCATGAGGCTGTGTTCCTCCGTGGGGTGGACATATATACACGCCTGCTGCCTGCCCTTGCCAGTGTGCCTGCCCTGCCCAGTGACAGCTGAGCCCTGGAACTCCTAAACCTTTGCCCCTGGGGCTTCCATCCCAACCAGTGCCAAGGACCTCCTCTTCCCCCTTCCAAATAATAAAGTCTATGGACAGGGCTGTCTCTGAAGTACTAACACAA

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