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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
NPR1 - Natriuretic Peptide Receptor 1
Alias:
ANPa
NPRA
ANPRA
GUC2A
GUCY2A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
环鸟苷酸酶,催化GTP产生cGMP,分为可溶性和膜形式(Garbers和Lowe,1994[PubMed 7982997])。膜环鸟苷酸酶,通常称为环鸟苷酸酶A到F,形成一组具有相似结构布局的细胞表面受体:一个细胞外配体结合域,一个单跨膜域,一个含有蛋白激酶样结构和环化酶催化结构域的细胞内区域。GC-A和GC-B作为钠尿肽受体,也称为心房钠尿肽受体A(NPR1)和B型(NPR2;MIM 108961)。此外,请参阅NPR3(MIM 108962),其编码仅具有配体结合跨膜和37个细胞质域的蛋白质。NPR1是一种膜结合的环鸟苷酸酶,作为心房和脑钠尿肽(ANP(MIM 108780)和BNP(MIM 600295)的受体。[由OMIM于2009年5月提供]
Related ID:
NCBI:4881
ENSEMBL:ENSG00000169418
HGNC:7943
UNIPROT:P16066
OMIM:108960
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4881
3
22
15305 bp
118.92
34
--
11
10
NPR1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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