1. Gene
  2. EHBP1L1 - EH domain binding protein 1 like 1 Gene

EHBP1L1 - EH domain binding protein 1 like 1 Gene

中文名称:EH 结构域结合蛋白 1 like 1

种属: Homo sapiens

基因 ID: 254102 | 基因类型: protein coding

关于 EHBP1L1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,576,053-65,592,650 (from NCBI)

This gene has 11 transcripts (splice variants), 182 orthologues and 7 paralogues. Ubiquitous expression in spleen (RPKM 34.0), appendix (RPKM 32.9) and 24 other tissues.

功能概要

预计参与肌动蛋白细胞骨架组织。位于膜内。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in actin Cytoskeleton organization. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

EHBP1L1 基因产物(2)

mRNA Protein Name
NM_001099409.3 NP_001092879.1 EH domain-binding protein 1-like protein 1 isoform 1
NM_001351087.2 NP_001338016.1 EH domain-binding protein 1-like protein 1 isoform 2

EHBP1L1 蛋白结构

NT-C2

NT-C2: N-terminal C2 in EEIG1 and EHBP1 proteins (12 - 162)

CH

CH: Calponin homology (CH) domain (1041 - 1139)

DUF3585

DUF3585: Protein of unknown function (DUF3585) (1359 - 1501)

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  • 1523 a.a.
蛋白主名 其他名称

EH domain-binding protein 1-like protein 1

tangerin

关联疾病

疾病名称 别名
Megaesophagus

Esophageal Achalasia

Orthostatic Proteinuria

Postural Albuminuria

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
Mus musculus EHBP1L1 MGD MGI:3612340
Macaca mulatta EHBP1L1 VGNC VGNC:72147
Canis familiaris EHBP1L1 VGNC VGNC:40245
Felis catus EHBP1L1 VGNC VGNC:82424
Bos taurus EHBP1L1 VGNC VGNC:28371
Rattus norvegicus EHBP1L1 RGD RGD:1563823