1. Gene
  2. EPB41 - erythrocyte membrane protein band 4.1 Gene

EPB41 - erythrocyte membrane protein band 4.1 Gene

中文名称:红细胞膜蛋白带 4.1

种属: Homo sapiens

同用名: HE; EL1; 4.1R

基因 ID: 2035 | 基因类型: protein coding

关于 EPB41

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:28,887,100-29,120,041 (from NCBI)

This gene has 40 transcripts (splice variants), 281 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 9.2), lymph node (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码的蛋白质与血影蛋白和肌动蛋白一起构成了红细胞膜细胞骨架网络。这种复合物在红细胞形状和变形能力中起着关键作用。该基因的突变与 1 型椭圆形红细胞增多症 (EL1) 有关。已针对该基因描述了编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 10 月]

The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]

EPB41 基因产物(22)

mRNA Protein Name
NM_001166005.2 NP_001159477.1 protein 4.1 isoform 1
NM_001166006.2 NP_001159478.1 protein 4.1 isoform 3
NM_001166007.2 NP_001159479.1 protein 4.1 isoform 5
NM_001376013.1 NP_001362942.1 protein 4.1 isoform 1
NM_001376014.1 NP_001362943.1 protein 4.1 isoform 7
NM_001376015.1 NP_001362944.1 protein 4.1 isoform 8
NM_001376016.1 NP_001362945.1 protein 4.1 isoform 9
NM_001376017.1 NP_001362946.1 protein 4.1 isoform 10
NM_001376018.1 NP_001362947.1 protein 4.1 isoform 11
NM_001376019.1 NP_001362948.1 protein 4.1 isoform 12
NM_001376020.1 NP_001362949.1 protein 4.1 isoform 13
NM_001376021.1 NP_001362950.1 protein 4.1 isoform 14
NM_001376022.1 NP_001362951.1 protein 4.1 isoform 15
NM_001376023.1 NP_001362952.1 protein 4.1 isoform 16
NM_001376024.1 NP_001362953.1 protein 4.1 isoform 17
NM_001376025.1 NP_001362954.1 protein 4.1 isoform 18
NM_001376026.1 NP_001362955.1 protein 4.1 isoform 19
NM_001376027.1 NP_001362956.1 protein 4.1 isoform 20
NM_001376028.1 NP_001362957.1 protein 4.1 isoform 23
NM_004437.4 NP_004428.1 protein 4.1 isoform 6
NM_203342.3 NP_976217.1 protein 4.1 isoform 4
NM_203343.3 NP_976218.1 protein 4.1 isoform 2
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
enables 1-phosphatidylinositol binding IDA
IDA: 通过直接分析推断
16669616 GOA
enables phosphoprotein binding IMP
IMP: 通过突变表型推断
20109190 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8922391 GOA
enables structural constituent of cytoskeleton IMP
IMP: 通过突变表型推断
6894932 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of protein binding IDA
IDA: 通过直接分析推断
3693401 GOA
involved in positive regulation of protein localization to cell cortex IMP
IMP: 通过突变表型推断
23870127 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell cortex IDA
IDA: 通过直接分析推断
23870127 GOA
located in cortical cytoskeleton IDA
IDA: 通过直接分析推断
16254212 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
6894932 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
16060676 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
20109190 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

EPB41 蛋白结构

FERM_N

FERM_N: FERM N-terminal domain (214 - 290)

FERM_M

FERM_M: FERM central domain (292 - 401)

FERM_C

FERM_C: FERM C-terminal PH-like domain (407 - 490)

FA

FA: FERM adjacent (FA) (498 - 542)

SAB

SAB: SAB domain (667 - 715)

4_1_CTD

4_1_CTD: 4.1 protein C-terminal domain (CTD) (748 - 861)

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

protein 4.1

EPB4.1

关联疾病

疾病名称 别名
Elliptocytosis 1

EL1

Elliptocytosis-1

Elliptocytosis, Rhesus-Linked Type

Protein 4.1 Of Erythrocyte Membrane, Defect Of

4.1-Minus Trait

4.1- Trait

Elliptocytosis Rhesus-Linked Type

Ovalocytosis

Elliptocytosis, Hereditary

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

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

Neurofibromatosis, Type Ii

Neurofibromatosis 2

Neurofibromatosis, Type 2

NF2

Neurofibromatosis Type Ii

Bilateral Acoustic Neurofibromatosis

Banf

Acn

Central Neurofibromatosis

Neurofibromatosis, Central Type

Acoustic Schwannomas, Bilateral

Acoustic Neurinoma, Bilateral

Bilateral Acoustic Neurinoma

Bilateral Acoustic Schwannomas

Familial Acoustic Neuromas

Nystagmus 6, Congenital, X-Linked

NYS6

Congenital Nystagmus 6

X-Linked Congenital Nystagmus 6

Nystagmus Congenital X-Linked 6

Nystagmus, Type 6, Congenital, X-Linked

Nystagmus 3, Congenital, Autosomal Dominant

NYS3

Congenital Nystagmus 3

Autosomal Dominant Congenital Nystagmus 3

Petrous Apex Meningioma

Meningioma Of The Petrous Ridge

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Spinal Meningioma

Spinal Cord Meningioma

Meningioma, Spine

Meningioma

Meningioma, Benign, No Icd-O Subtype

Spinal Canal And Spinal Cord Meningioma
Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5

SCA5

Spinocerebellar Ataxia-5

Ataxia, Spinocerebellar, Type 5

Overhydrated Hereditary Stomatocytosis

Ohs

Potassium Sodium Disorder Of Erythrocyte

OHST

Stomatocytosis I

Potassium-Sodium Disorder Of Erythrocyte

Stomatocytosisiohst

Hereditary, Overhydrated, Cation-Leak Stomatocytosis

Overhydrated Cation Leak Stomatocytosis

Stomatocytosis, Overhydrated Hereditary

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Anterior Cranial Fossa Meningioma

Meningioma Of The Anterior Fossa

Transitional Meningioma

Transitional Meningioma

Tuberculum Sellae Meningioma

Meningioma Of The Tuberculum Sellae

Sella Turcica Neoplasm

Tumor Of Sella Turcica

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency

Favism

Favism, Susceptibility To

Hemolytic Anemia, G6pd Deficient

Class I Glucose-6-Phosphate Dehydrogenase Deficiency

Class I G6pd Deficiency

Severe Hemolytic Anemia Due To G6pd Deficiency

Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency

NSHA

G6pd Deficient Hemolytic Anemia

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 EPB41 RGD RGD:1564762
Canis familiaris EPB41 VGNC VGNC:40392
Felis catus EPB41 VGNC VGNC:61891
Bos taurus EPB41 VGNC VGNC:28519
Macaca mulatta EPB41 VGNC VGNC:72230
Mus musculus EPB41 MGD MGI:95401