2. Gene
  3. EPS8L3 - EPS8 like 3 Gene

EPS8L3 - EPS8 like 3 Gene

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

中文名称：EPS8 样 3

种属: Homo sapiens

同用名: HYPT5; EPS8R3

基因 ID: 79574 | 基因类型: protein coding

关于 EPS8L3

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,750,080-109,763,923 (from NCBI)

This gene has 10 transcripts (splice variants), 266 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 73.4), duodenum (RPKM 70.1) and 4 other tissues.

功能概要

该基因编码一种与表皮生长因子受体通路底物 8 (EPS8) 相关的蛋白质，EPS8 是表皮生长因子受体的底物。这种蛋白质的功能是未知的。存在编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

EPS8L3 基因产物(4)

mRNA Protein Name
NM_001319952.2 NP_001306881.1 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform d
NM_024526.4 NP_078802.2 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform c
NM_133181.4 NP_573444.2 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform b
NM_139053.3 NP_620641.1 epidermal growth factor receptor kinase substrate 8-like protein 3 isoform a
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
NOT enables actin filament binding IDA
IDA: 通过直接分析推断
14565974 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
14565974 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14565974 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of hair cycle IMP
IMP: 通过突变表型推断
23099647 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14565974 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

EPS8L3 蛋白结构

PTB

PTB: Phosphotyrosine-binding domain (28 - 150)

SH3_1

SH3_1: SH3 domain (457 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 593 a.a.
蛋白主名 其他名称

epidermal growth factor receptor kinase substrate 8-like protein 3

EPS8-like protein 3

关联疾病

疾病名称 别名
Marie Unna Congenital Hypotrichosis

Marie Unna Hereditary Hypotrichosis

Hypotrichosis, Marie Unna Type

Muhh
Hypotrichosis 5

HYPT5

Marie Unna Hereditary Hypotrichosis 2

Muhh2

Hypotrichosis, Hereditary, Marie Unna Type, 2
Hypotrichosis
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-RS04457 EPS8L3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus EPS8L3 RGD RGD:11498829
Felis catus EPS8L3 VGNC VGNC:61923
Bos taurus EPS8L3 VGNC VGNC:59179
Canis familiaris EPS8L3 VGNC VGNC:40430
Mus musculus EPS8L3 MGD MGI:2139743
Macaca mulatta EPS8L3 VGNC VGNC:72082
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