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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
PIK3R1 - Phosphoinositide-3-kinase Regulatory Subunit 1
Alias:
p85
AGM7
GRB1
IMD36
p85alpha
p85-ALPHA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
磷脂酰肌醇3-激酶在3'端位置对磷脂酰肌醇的肌醇环进行磷酸化。该酶包含一个110kD的催化亚基和85、55或50kD的调节亚基。该基因编码85kD的调节亚基。磷脂酰肌醇3-激酶在胰岛素的代谢作用中扮演重要角色,该基因的突变与胰岛素抵抗有关。该基因的可变剪接导致四个转录变异体,编码不同的异构体。[由RefSeq,2011年6月提供]
Related ID:
NCBI:5295
ENSEMBL:ENSG00000145675
HGNC:8979
UNIPROT:P27986
OMIM:171833
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5295
9
16
86066 bp
83.60
439
6
15
69
PIK3R1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Type
Name
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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