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  2. EPN3 - epsin 3 Gene

EPN3 - epsin 3 Gene

中文名称:epsin 3

种属: Homo sapiens

基因 ID: 55040 | 基因类型: protein coding

关于 EPN3

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,532,735-50,543,750 (from NCBI)

This gene has 17 transcripts (splice variants), 250 orthologues and 5 paralogues. Broad expression in stomach (RPKM 11.8), esophagus (RPKM 7.2) and 16 other tissues.

功能概要

预测启用网格蛋白结合活性和磷脂结合活性。预计参与内吞作用。位于网格蛋白包被的囊泡中;核质;和细胞质的核周区。是质膜的外在成分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Located in clathrin-coated vesicle; nucleoplasm; and perinuclear region of cytoplasm. Is extrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

EPN3 基因产物(1)

mRNA Protein Name
NM_017957.3 NP_060427.2 epsin-3
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
20709745 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
11359770 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
20709745 GOA
located in nucleus IDA
IDA: 通过直接分析推断
11359770 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
11359770 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

EPN3 蛋白结构

ENTH

ENTH: ENTH domain (17 - 140)

UIM

UIM: Ubiquitin interaction motif (209 - 225)

UIM

UIM: Ubiquitin interaction motif (236 - 252)

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

epsin-3

EPS-15-interacting protein 3

关联疾病

疾病名称 别名
Adult Spinal Cord Ependymoma
Brain Ependymoma

Ependymal Tumor Of Brain

Ependymoma Of Brain

Deafness, Autosomal Dominant 28

DFNA28

Autosomal Dominant Nonsyndromic Deafness 28

Autosomal Dominant Deafness 28

Deafness, Autosomal Dominant, 28

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28

Deafness, Autosomal Dominant, Type 28

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

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
Rattus norvegicus EPN3 RGD RGD:1306416
Bos taurus EPN3 VGNC VGNC:28548
Felis catus EPN3 VGNC VGNC:61914
Mus musculus EPN3 MGD MGI:1919139
Macaca mulatta EPN3 VGNC VGNC:72068
Canis familiaris EPN3 VGNC VGNC:40421