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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
ANPEP - Alanyl Aminopeptidase, Membrane
Alias:
APN
AP-M
AP-N
CD13
LAP1
P150
PEPN
hAPN
GP150
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
氨基肽酶N位于小肠和肾微绒毛膜中,以及其他质膜中。在小肠中,氨基肽酶N在由胃和胰腺蛋白酶水解蛋白质产生的肽的最终消化中发挥作用。在近端管状上皮细胞和其他细胞类型中的功能尚不清楚。大型细胞外羧基端结构域包含一个五肽共识序列,这是锌结合金属蛋白酶超家族成员的特有特征。与已知酶的序列比较表明,CD13和氨基肽酶N是相同的。后者被认为涉及不同细胞类型中调节肽的代谢,包括小肠和肾管状上皮细胞、巨噬细胞、粒细胞和CNS的突触膜。这种膜结合的锌金属蛋白酶也被已知作为HCoV-229E β冠状病毒以及其他非人类冠状病毒的受体。该基因也被证明能促进血管生成、肿瘤生长和转移,并且该基因的缺陷与各种类型的白血病和淋巴瘤有关。[由RefSeq,2020年4月提供]
Related ID:
NCBI:290
ENSEMBL:ENSG00000166825
HGNC:500
UNIPROT:P15144
OMIM:151530
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
290
3
21
29958 bp
109.54
57
--
9
29
ANPEP Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
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Status
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Link
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