1. Gene
  2. EPS15L1 - epidermal growth factor receptor pathway substrate 15 like 1 Gene

EPS15L1 - epidermal growth factor receptor pathway substrate 15 like 1 Gene

中文名称:表皮生长因子受体通路底物 15 like 1

种属: Homo sapiens

同用名: EPS15R

基因 ID: 58513 | 基因类型: protein coding

关于 EPS15L1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,355,247-16,472,012 (from NCBI)

This gene has 16 transcripts (splice variants), 293 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues.

功能概要

启用钙粘蛋白结合活动。预计参与胞吞作用和内体转运。位于膜内。 [由基因组资源联盟提供,2022 年 4 月]

Enables cadherin binding activity. Predicted to be involved in endocytosis and endosomal transport. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

EPS15L1 基因产物(4)

mRNA Protein Name
NM_001258374.3 NP_001245303.1 epidermal growth factor receptor substrate 15-like 1 isoform 1
NM_001258375.2 NP_001245304.1 epidermal growth factor receptor substrate 15-like 1 isoform 3
NM_001258376.2 NP_001245305.1 epidermal growth factor receptor substrate 15-like 1 isoform 4
NM_021235.3 NP_067058.1 epidermal growth factor receptor substrate 15-like 1 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
16159959 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

EPS15L1 蛋白结构

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (33 - 80)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (126 - 215)

EF-hand_4

EF-hand_4: Cytoskeletal-regulatory complex EF hand (279 - 361)

  • 0
  • 200
  • 400
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  • 800
  • 864 a.a.
蛋白主名 其他名称

epidermal growth factor receptor substrate 15-like 1

epidermal growth factor receptor substrate EPS15R

EPS15L1 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 EPS15L1 Q9UBC2 GNG5 Homo sapiens P63218
Validated Y2H
25416956
Intra EPS15L1 Q9UBC2 GNG5 Homo sapiens P63218
Y2H Prey Pooling
25416956
Intra EPS15L1 Q9UBC2 GNG5 Homo sapiens P63218
Y2H Array
25416956
Intra EPS15L1 Q9UBC2 ITSN2 Homo sapiens Q9NZM3
Anti Tag CoIP
33961781
Intra EPS15L1 Q9UBC2 STON2 Homo sapiens Q8WXE9
ITC
18200045
Intra EPS15L1 Q9UBC2 STON2 Homo sapiens Q8WXE9
Anti Tag CoIP
33961781
Intra EPS15L1 Q9UBC2 TRAPPC2 Homo sapiens P0DI81
Validated Y2H
25416956
Intra EPS15L1 Q9UBC2 TRAPPC2 Homo sapiens P0DI81
Y2H Array
25416956
Intra EPS15L1 Q9UBC2 ITSN1 Homo sapiens Q15811
Anti Tag CoIP
33961781
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
Isolated Split Hand-Split Foot Malformation

Ectrodactyly

Shfm

Split Hand Foot Malformation

Split-Hand/Foot Malformation

Split Hand Foot Deformity 1

Split Hand Foot Deformity

Split-Hand/Foot Malformation 6

Split Hand-Foot Malformation 6

SHFM6

Ectrodactyly, Autosomal Recessive

Ectrodactyly Autosomal Recessive

Split-Hand/Foot Malformation, Type 6

Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5

Split-Hand/Foot Malformation 2

SHFM2

Shfd2

Shsf2

Split Hand/Foot Malformation 2

Split Hand-Foot Malformation 2

Split-Hand/Split-Foot Anomaly, X-Linked

Split-Hand/Foot Deformity 2

Split Hand/Foot Malformation X-Linked

Split Hand Foot Anomaly - X-Linked

Split Hand Foot Deformity 2

Split-Hand/Foot Malformation 4

SHFM4

Split Hand-Foot Malformation 4

Split-Hand/Foot Malformation, Type 4

Split Hand-Foot Malformation

Ectrodactyly

Split-Hand/Foot Malformation

Lobster-Claw Deformity

Split-Hand Deformity

Split Hand Foot Malformation

Shfm

Split Hand Foot Deformity

Split Hand Foot Deformity 1

Chemical Colitis
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
Macaca mulatta EPS15L1 VGNC VGNC:72100
Bos taurus EPS15L1 VGNC VGNC:28554
Felis catus EPS15L1 VGNC VGNC:61919
Mus musculus EPS15L1 MGD MGI:104582
Canis familiaris EPS15L1 VGNC VGNC:40426
Rattus norvegicus EPS15L1 RGD RGD:1565708