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

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

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

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

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

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