2. Gene
  3. EPB41L1 - erythrocyte membrane protein band 4.1 like 1 Gene

EPB41L1 - erythrocyte membrane protein band 4.1 like 1 Gene

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

中文名称：红细胞膜蛋白带 4.1 like 1

种属: Homo sapiens

同用名: 4.1N; MRD11

基因 ID: 2036 | 基因类型: protein coding

关于 EPB41L1

Cytogenetic location: 20q11.23 Genomic coordinates (GRCh38): 20:36,091,414-36,232,799 (from NCBI)

This gene has 19 transcripts (splice variants), 218 orthologues, 10 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 24.1), adrenal (RPKM 21.5) and 21 other tissues.

功能概要

红细胞膜蛋白带 4.1 (EPB41) 是一种多功能蛋白，可介导红细胞细胞骨架与上覆质膜之间的相互作用。编码的蛋白质结合并稳定神经元质膜上的 D2 和 D3 多巴胺受体。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 1 月]

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte Cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

EPB41L1 基因产物(5)

mRNA Protein Name
NM_001258329.1 NP_001245258.1 band 4.1-like protein 1 isoform c
NM_001258330.1 NP_001245259.1 band 4.1-like protein 1 isoform d
NM_001258331.2 NP_001245260.1 band 4.1-like protein 1 isoform b
NM_012156.2 NP_036288.2 band 4.1-like protein 1 isoform a
NM_177996.2 NP_818932.1 band 4.1-like protein 1 isoform b
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
21044950 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

EPB41L1 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (101 - 177)

FERM_M

FERM_M: FERM central domain (179 - 288)

FERM_C

FERM_C: FERM C-terminal PH-like domain (292 - 379)

FA

FA: FERM adjacent (FA) (384 - 430)

SAB

SAB: SAB domain (493 - 544)

4_1_CTD

4_1_CTD: 4.1 protein C-terminal domain (CTD) (786 - 868)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 881 a.a.
蛋白主名 其他名称

band 4.1-like protein 1

neuron-type nonerythroid protein 4.1

EPB41L1 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
种属内
EPB41L1 Q9H4G0 TERF1 Homo sapiens P54274
Pull Down
21044950
种属内
EPB41L1 Q9H4G0 TERF1 Homo sapiens P54274
BiFC
21044950
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
Chromosome 20q11-Q12 Deletion Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 11

Autosomal Dominant Non-Syndromic Intellectual Disability 11

MRD11

Intellectual Developmental Disorder, Autosomal Dominant 11, Included

Mrd11, Included

Mental Retardation, Autosomal Dominant 11, Included

Autosomal Dominant Intellectual Developmental Disorder 11

Autosomal Dominant Mental Retardation 11

Mental Retardation, Autosomal Dominant, Type 11
Autosomal Dominant Non-Syndromic Intellectual Disability
Midface Dysplasia
Enophthalmos
Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia
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-RS04411 EPB41L1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus EPB41L1 VGNC VGNC:28520
Rattus norvegicus EPB41L1 RGD RGD:71087
Mus musculus EPB41L1 MGD MGI:103010
Canis familiaris EPB41L1 VGNC VGNC:40393
Macaca mulatta EPB41L1 VGNC VGNC:72231
Felis catus EPB41L1 VGNC VGNC:61892
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