2. Gene
  3. GNAI3 - G protein subunit alpha i3 Gene

GNAI3 - G protein subunit alpha i3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：G 蛋白亚基αi3

种属: Homo sapiens

同用名: 87U6; HG1A; ARCND1

基因 ID: 2773 | 基因类型: protein coding

关于 GNAI3

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,548,615-109,600,195 (from NCBI)

This gene has 1 transcript (splice variant), 235 orthologues, 15 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 27.0), bone marrow (RPKM 22.0) and 25 other tissues.

功能概要

鸟嘌呤核苷酸结合蛋白 (G 蛋白) 作为调节剂或转导剂参与各种跨膜信号通路。 G 蛋白由 3 个单位组成：α、β 和γ。该基因编码一个 alpha 亚基，属于 G-alpha 家族。该基因的突变导致 gly40 至 arg 取代，与耳髁综合征相关，并显示影响 G 蛋白偶联内皮素受体通路中的下游靶标。[RefSeq 提供，2012 年 6 月]

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled Endothelin Receptor pathway. [provided by RefSeq, Jun 2012]

GNAI3 基因产物(1)

mRNA Protein Name
NM_006496.4 NP_006487.1 guanine nucleotide-binding protein G(i) subunit alpha-3
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GDP binding IDA
IDA: 通过直接分析推断
19478087 GOA
enables GTPase activity IDA
IDA: 通过直接分析推断
19478087 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18434541 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GTP metabolic process IDA
IDA: 通过直接分析推断
19478087 GOA
involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
19478087 GOA
involved in cell division IDA
IDA: 通过直接分析推断
17635935 GOA
involved in positive regulation of macroautophagy IMP
IMP: 通过突变表型推断
12642577 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with Golgi membrane IDA
IDA: 通过直接分析推断
12642577 GOA
located in centrosome IDA
IDA: 通过直接分析推断
17635935 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
17635935 GOA
colocalizes with endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
12642577 GOA
located in midbody IDA
IDA: 通过直接分析推断
17635935 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17635935 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

GNAI3 蛋白结构

G-alpha

G-alpha: G-protein alpha subunit (6 - 343)

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

guanine nucleotide-binding protein G(i) subunit alpha-3

g(i) alpha-3

GNAI3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra GNAI3 P08754 PCP2 Homo sapiens Q8IVA1
Y2H Prey Pooling
32296183
Intra GNAI3 P08754 PCP2 Homo sapiens Q8IVA1
Validated Y2H
32296183
Intra GNAI3 P08754 PCP2 Homo sapiens Q8IVA1
Y2H Array
32296183
Intra GNAI3 P08754 PHF24 Homo sapiens Q9UPV7
Y2H Array
32296183
Intra GNAI3 P08754 PHF24 Homo sapiens Q9UPV7
Validated Y2H
32296183
Intra GNAI3 P08754 PHF24 Homo sapiens Q9UPV7
Y2H Prey Pooling
32296183
Intra GNAI3 P08754 GPSM3 Homo sapiens Q9Y4H4
Validated Y2H
25416956
Intra GNAI3 P08754 GPSM3 Homo sapiens Q9Y4H4
Validated Y2H
32296183
Intra GNAI3 P08754 GPSM3 Homo sapiens Q9Y4H4
Y2H Array
25416956
Intra GNAI3 P08754 RGS17 Homo sapiens Q9UGC6
Validated Y2H
25416956
Intra GNAI3 P08754 GPSM2 Homo sapiens P81274
Validated Y2H
32296183
Intra GNAI3 P08754 GPSM2 Homo sapiens P81274
Y2H Array
32296183
Intra GNAI3 P08754 GPSM2 Homo sapiens P81274
Y2H Prey Pooling
32296183
Intra GNAI3 P08754 RGS14 Homo sapiens O43566
Y2H Array
32296183
Intra GNAI3 P08754 RGS14 Homo sapiens O43566
Anti Tag CoIP
33961781
Intra GNAI3 P08754 RGS14 Homo sapiens O43566
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Auriculocondylar Syndrome 1

Question Mark Ears Syndrome

ARCND1

Dysgnathia Complex

Acs

Auriculocondylar Syndrome, Type 1

Auriculo-Condylar Syndrome

Stomatognathic System Abnormalities
Auriculo-Condylar Syndrome

Auriculocondylar Syndrome

Dysgnathia Complex

Ears Prominent And Constricted

Question Mark Ear

Question-Mark Ear Syndrome

Question Mark Ear Syndrome
Ankylosis
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 5

SRTD5

Atd5

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 5
Frontonasal Dysplasia 1

Frontorhiny

Frontonasal Dysplasia

Fnd

Frontonasal Malformation

Fnm

Median Facial Cleft Syndrome

Midline Facial Cleft

FND1

Median Cleft Face Syndrome

Median Cleft Syndrome

Frontonasal Dysplasia Sequence

Median Facial Cleft

Tessier Number 0-14 And 30 Facial Cleft

Alx3-Related Frontonasal Dysplasia

Frontonasal Dysplasia Type 1

Isolated Median Cleft Face Syndrome

Doid:0081044

Doid:0081045

Dysplasia, Frontonasal, Type
Mandibulofacial Dysostosis With Alopecia

MFDA
Neurodevelopmental Disorder With Involuntary Movements

NEDIM
Agnathia-Otocephaly Complex

Otocephaly

Holoprosencephaly-Agnathia

Dysgnathia Complex Agnathia-Holoprosencephaly

AGOTC

Agnathia-Holoprosencephaly-Situs Inversus Syndrome

Dysgnathia Complex

Agnathia-Holoprosencephaly

Cervical Auricle
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05536 GNAI3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus GNAI3 VGNC VGNC:80220
Rattus norvegicus GNAI3 RGD RGD:2714
Macaca mulatta GNAI3 VGNC VGNC:73091
Canis familiaris GNAI3 VGNC VGNC:41303
Bos taurus GNAI3 VGNC VGNC:29451
Mus musculus GNAI3 MGD MGI:95773
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