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  2. ADAT1 - adenosine deaminase tRNA specific 1 Gene

ADAT1 - adenosine deaminase tRNA specific 1 Gene

中文名称:腺苷脱氨酶 tRNA 特异性 1

种属: Homo sapiens

同用名: HADAT1

基因 ID: 23536 | 基因类型: protein coding

关于 ADAT1

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:75,596,868-75,623,281 (from NCBI)

This gene has 10 transcripts (splice variants), 196 orthologues and 14 paralogues. Ubiquitous expression in testis (RPKM 4.0), thyroid (RPKM 2.5) and 25 other tissues.

功能概要

该基因是 ADAR (作用于 RNA 的腺苷脱氨酶) 家族的成员。使用位点特异性腺苷修饰,由这些基因编码的蛋白质参与核转录本的前 mRNA 编辑。由该基因编码的蛋白质,tRNA 特异性腺苷脱氨酶 1,负责将真核 tRNA 中的腺苷 37 脱氨为肌苷。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2010 年 7 月]

This gene is a member of the ADAR (Adenosine Deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific Adenosine Deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

ADAT1 基因产物(10)

mRNA Protein Name
NM_001324444.2 NP_001311373.1 tRNA-specific adenosine deaminase 1 isoform b
NM_001324445.2 NP_001311374.1 tRNA-specific adenosine deaminase 1 isoform a
NM_001324446.2 NP_001311375.1 tRNA-specific adenosine deaminase 1 isoform b
NM_001324448.2 NP_001311377.1 tRNA-specific adenosine deaminase 1 isoform c
NM_001324449.2 NP_001311378.1 tRNA-specific adenosine deaminase 1 isoform c
NM_001324450.2 NP_001311379.1 tRNA-specific adenosine deaminase 1 isoform d
NM_001324451.2 NP_001311380.1 tRNA-specific adenosine deaminase 1 isoform d
NM_001324452.2 NP_001311381.1 tRNA-specific adenosine deaminase 1 isoform e
NM_001324453.2 NP_001311382.1 tRNA-specific adenosine deaminase 1 isoform f
NM_012091.5 NP_036223.2 tRNA-specific adenosine deaminase 1 isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA binding IMP
IMP: 通过突变表型推断
10430867 GOA
enables tRNA-specific adenosine deaminase activity IMP
IMP: 通过突变表型推断
10430867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in tRNA processing IMP
IMP: 通过突变表型推断
10430867 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

ADAT1 蛋白结构

A_deamin

A_deamin: Adenosine-deaminase (editase) domain (63 - 497)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 502 a.a.
蛋白主名 其他名称

tRNA-specific adenosine deaminase 1

adenosine deaminase acting on tRNA

关联疾病

疾病名称 别名
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2

Hypophosphatemic Nephrolithiasis/Osteoporosis 2

NPHLOP2

Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2

Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 2

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ADAT1 VGNC VGNC:37613
Felis catus ADAT1 VGNC VGNC:59608
Mus musculus ADAT1 MGD MGI:1353631
Bos taurus ADAT1 VGNC VGNC:25637
Macaca mulatta ADAT1 VGNC VGNC:69504
Rattus norvegicus ADAT1 RGD RGD:1591020