CPA1(羧肽酶A1)属于金属羧肽酶基因家族,主要编码羧肽酶A1,这是一种消化酶,在胰腺中高度表达,负责在蛋白质消化过程中从多肽链的C端移除芳香族或中性氨基酸残基。CPA1通过锌离子依赖的机制发挥作用,其活性位点包含关键的锌结合氨基酸残基(如His69、Glu72和His196),突变这些位点会显著降低酶活性。CPA1基因突变与慢性胰腺炎风险增加相关,尤其是某些错义突变(如p.N256K)可能导致错误折叠的酶在胰腺细胞内积累,引发内质网应激和细胞损伤。CPA1过表达可能加重胰腺炎症反应,而表达降低则可能影响蛋白质消化效率,导致营养吸收不良。该基因属于CPA基因亚家族(包括CPA1、CPA2、CPA4等),成员均具有相似的锌依赖催化机制和底物特异性,但组织分布不同(如CPA2主要在胰腺,CPA4则在多种组织中表达)。CPA1还与胰腺癌发展相关,其异常表达可能通过影响细胞外基质重塑促进肿瘤侵袭。此外,CPA1单核苷酸多态性(SNPs)可能影响个体对胰腺疾病的易感性。
This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]
该基因编码的羧成员锌金属蛋白酶家族。这种酶在胰腺产生和优先切割C-末端支链和从膳食蛋白质芳香族氨基酸。该基因和几个M组余烬存在于染色体上的7突变该基因可能与慢性胰腺炎的基因簇,而升高的蛋白水平可以与胰腺癌相关联。 [由RefSeq的,2015年1月提供]
CPA1基因(以及对应的蛋白质)的细胞分布位置:
CPA1基因的本体(GO)信息:
名称 |
---|
4972 Pancreatic secretion [PATH:hsa04972] |
4974 Protein digestion and absorption [PATH:hsa04974] |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Pancreatitis, Chronic | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Adenoma | 0.000542884 | 2 | 0 | BeFree |
Pancreatitis | 0.000542884 | 2 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
Conn Syndrome | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
TROPICAL CALCIFIC PANCREATITIS | 0.000271442 | 1 | 0 | BeFree |
Cushing Syndrome | 0.000271442 | 1 | 0 | BeFree |
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