ACY1 - aminoacylase 1 Gene

中文名称：氨基酰化酶 1

种属: Homo sapiens

同用名: ACY-1; ACY1D; HEL-S-5

基因 ID: 95 | 基因类型: protein coding

关于 ACY1

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:51,983,535-51,989,197 (from NCBI)

This gene has 29 transcripts (splice variants), 209 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 217.1), duodenum (RPKM 77.7) and 7 other tissues.

功能概要

该基因编码一种胞质、同型二聚体、锌结合酶，可催化酰化 L-氨基酸水解为 L-氨基酸和酰基，并被假定在酰化氨基酸的分解代谢和回收中发挥作用。该基因位于染色体 3p21.1 上，该区域在小细胞肺癌 (SCLC) 中降低为纯合性，据报道其表达在 SCLC 细胞系和肿瘤中降低或检测不到。人氨酰化酶-1 的氨基酸序列与猪对应物高度同源，该酶是锌结合酶新家族的第一个成员。该基因的突变会导致氨基酰化酶-1 缺乏症，这是一种以中枢神经系统缺陷和 N-乙酰化氨基酸的尿液排泄增加为特征的代谢紊乱。该基因的可变剪接导致多个转录变体。通读转录也存在于该基因和上游 ABHD14A (含有 14A 的脱氢酶结构域) 基因之间，如 GeneID：100526760 所示。已在 18 号染色体上鉴定出一个相关的假基因。[RefSeq 提供，2010 年 11 月]

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]

ACY1 基因产物(5)

mRNA	Protein	Name
NM_000666.3	NP_000657.1	aminoacylase-1 isoform a
NM_001198895.2	NP_001185824.1	aminoacylase-1 isoform a
NM_001198896.2	NP_001185825.1	aminoacylase-1 isoform b
NM_001198897.2	NP_001185826.1	aminoacylase-1 isoform c
NM_001198898.2	NP_001185827.1	aminoacylase-1 isoform d

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables aminoacylase activity	IDA IDA: 通过直接分析推断	12933810	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21044950	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular exosome	IDA IDA: 通过直接分析推断	21082674	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ACY1 蛋白结构

Peptidase_M20

M20_dimer

0
100
200
300
408 a.a.

蛋白主名

其他名称

aminoacylase-1

N-acyl-L-amino-acid amidohydrolase

ACY1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	ACY1	Q03154	WWOX	Homo sapiens	Q9NZC7-5	Validated Y2H	32296183
种属内	ACY1	Q03154	TRIM33	Homo sapiens	Q9UPN9	Anti Tag CoIP	33961781
种属内	ACY1	Q03154	TERF1	Homo sapiens	P54274	Pull Down	21044950
种属内	ACY1	Q03154	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
种属内	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Array	25502805
种属内	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Pooling	16189514
种属内	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Validated Y2H	32296183
种属内	ACY1	Q03154	TENT5B	Homo sapiens	Q96A09	Validated Y2H	32296183
种属内	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Prey Pooling	32296183
种属内	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Array	32296183
种属内	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H	21516116
种属内	ACY1	Q03154	ACY1	Homo sapiens	Q03154	Y2H Array	31515488

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ACY1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P75576	Aminoacylase-1 Protein, Human (sf9, His)	Q03154 (M1-S408)	≥95%

关联疾病

疾病名称

别名

Aminoacylase 1 Deficiency

ACY1D	Deficiency Of The Aminoacylase-1 Enzyme
Acy1 Deficiency	Neurological Conditions Associated With Aminoacylase 1 Deficiency
N-Acyl-L-Amino Acid Amidohydrolase Deficiency	Aminoacylase-1 Deficiency
Encephalopathy Associated With Aminoacylase 1 Deficiency

Syringomyelia

Hydromyelia

Charcot-Marie-Tooth Disease, Axonal, Type 2cc

Charcot-Marie-Tooth Disease Axonal Type 2cc	CMT2CC
Charcot-Marie-Tooth Neuropathy, Type 2cc	Charcot-Marie-Tooth Neuropathy Type 2cc
Charcot-Marie-Tooth Disease 2cc

Hyperprolinemia, Type I

Proline Oxidase Deficiency	Hyperprolinemia Type 1
HYRPRO1	Hpi
Hyperprolinemia Type I	Hyperprolinemia 1
Proline Dehydrogenase Deficiency

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis	Marble Brain Disease
OPTB3	Guibaud-Vainsel Syndrome
Carbonic Anhydrase Ii Deficiency	Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
Autosomal Recessive Osteopetrosis 3	Carbonic Anhydrase 2 Deficiency
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis	Osteopetrosis Autosomal Recessive 3
Autosomal Recessive Osteopetrosis Type 3	Guibaud Vainsel Syndrome
Mixed Rta	Mixed Renal Tubular Acidosis
Renal Tubular Acidosis Type 3	Carbonic Anhydrase Ii Deficiency Syndrome
Carbonic Anhydrase Ii Variant	Osteopetrosis, Autosomal Recessive, Type 3
Carbonic Anhydrase 2

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma	RCC
Nonpapillary Renal Cell Carcinoma	Clear Cell Renal Cell Carcinoma
Hypernephroma	Adenocarcinoma Of Kidney
Renal Carcinoma, Chromophobe, Somatic	Clear Cell Carcinoma Of Kidney
Clear-Cell Metastatic Renal Cell Carcinoma	Clear Cell Renal Carcinoma
Renal Cell Carcinoma, Somatic	Conventional Renal Cell Carcinoma
Conventional Renal Cell Carcinoma	Renal Clear Cell Carcinoma
Ccrcc	Hereditary Clear Cell Renal Cell Carcinoma
Carcinoma, Renal Cell	Renal Cell Carcinoma, Clear Cell, Somatic
Renal Cell Carcinoma, Clear Cell	Clear Cell Kidney Carcinoma
Clear Cell Rcc	Cystic-Multilocular Variant
Clear Cell Renal Cell Adenocarcinoma	Hereditary Clear Cell Renal Cell Adenocarcinoma
Common Renal Cell Carcinoma	Crcc
Renal Cell Carcinoma Non-Papillary	Carcinoma Renal Cell
Renal Cell Cancer	Carcinoma, Renal Cell, Nonpapillary

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00254	ACY1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ACY1	RGD	RGD:2030
Mus musculus	ACY1	MGD	MGI:87913
Others	ACY1	NCBI

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