2. Gene
  3. SH3GL3 - SH3 domain containing GRB2 like 3, endophilin A3 Gene

SH3GL3 - SH3 domain containing GRB2 like 3, endophilin A3 Gene

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

中文名称：含 SH3 结构域的 GRB2 样 3、嗜内源性蛋白 A3

种属: Homo sapiens

同用名: CNSA3; EEN-B2; SH3D2C; SH3P13; HsT19371

基因 ID: 6457 | 基因类型: protein coding

关于 SH3GL3

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:83,447,341-83,633,820 (from NCBI)

This gene has 6 transcripts (splice variants), 236 orthologues and 12 paralogues. Biased expression in testis (RPKM 8.3), brain (RPKM 5.2) and 1 other tissue.

功能概要

实现相同的蛋白质结合活性。预计参与突触小泡脱壳。预测位于顶体囊泡；早期内体膜；和突触前。预计是早期核内体的一部分。预计在谷氨酸能突触中活跃；突触后密度，细胞内成分；和突触后内体。 [由基因组资源联盟提供，2022 年 4 月]

Enables identical protein binding activity. Predicted to be involved in synaptic vesicle uncoating. Predicted to be located in acrosomal vesicle; early endosome membrane; and presynapse. Predicted to be part of early endosome. Predicted to be active in glutamatergic synapse; postsynaptic density, intracellular component; and postsynaptic endosome. [provided by Alliance of Genome Resources, Apr 2022]

SH3GL3 基因产物(9)

mRNA Protein Name
NM_001301108.2 NP_001288037.1 endophilin-A3 isoform b
NM_001301109.2 NP_001288038.1 endophilin-A3 isoform c
NM_001324182.2 NP_001311111.1 endophilin-A3 isoform d
NM_001324183.2 NP_001311112.1 endophilin-A3 isoform c
NM_001324184.2 NP_001311113.1 endophilin-A3 isoform e
NM_001324185.2 NP_001311114.1 endophilin-A3 isoform b
NM_001324186.2 NP_001311115.1 endophilin-A3 isoform e
NM_001324187.1 NP_001311116.1 endophilin-A3 isoform b
NM_003027.5 NP_003018.3 endophilin-A3 isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16115810 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15383276 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

SH3GL3 蛋白结构

BAR

BAR: BAR domain (6 - 241)

SH3_9

SH3_9: Variant SH3 domain (293 - 340)

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

endophilin-A3

SH3 domain containing GRB2 like endophilin A3

SH3GL3 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
种属内
SH3GL3 Q99963 RAPH1 Homo sapiens Q70E73
Pull Down
24076656
种属内
SH3GL3 Q99963 RAPH1 Homo sapiens Q70E73
IF
24076656
种属内
SH3GL3 Q99963 HTT Homo sapiens P42858
Y2H
16115810
种属内
SH3GL3 Q99963 HTT Homo sapiens P42858
NMR
17161366
种属内
SH3GL3 Q99963 HTT Homo sapiens P42858
Y2H
15383276
种属内
SH3GL3 Q99963 ATXN2 Homo sapiens Q99700
Anti Tag CoIP
16115810
种属内
SH3GL3 Q99963 SH3GL1 Homo sapiens Q99961
Anti Tag CoIP
33961781
种属内
SH3GL3 Q99963 ATXN2 Homo sapiens Q99700
Pull Down
18602463
种属内
SH3GL3 Q99963 ATXN2 Homo sapiens Q99700
Y2H
16115810
种属内
SH3GL3 Q99963 SH3GL1 Homo sapiens Q99961
Y2H
16115810
种属内
SH3GL3 Q99963 SH3GL2 Homo sapiens Q99962
Y2H
16115810
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
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome
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-RS12838 SH3GL3 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 SH3GL3 VGNC VGNC:65108
Bos taurus SH3GL3 VGNC VGNC:34574
Mus musculus SH3GL3 MGD MGI:700011
Canis familiaris SH3GL3 VGNC VGNC:46126
Rattus norvegicus SH3GL3 RGD RGD:620578
Macaca mulatta SH3GL3 VGNC VGNC:77205
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