EPB41 - erythrocyte membrane protein band 4.1 Gene

Homo sapiens

Also known as HE; EL1; 4.1R

Gene ID: 2035 | Gene type: protein coding

About 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.

Summary

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 Products(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

EPB41 Protein Structure

FERM_N

FERM_M

FERM_C

SAB

4_1_CTD

0
200
400
600
800
864 a.a.

Protein Preferred Names

Protein Names

protein 4.1

EPB4.1

Related Diseases

Diseases

Alias

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

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Purity	Rare Diseases
HY-RS04410	EPB41 Human Pre-designed siRNA Set A	/	Unkown
HY-RS04411	EPB41L1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS04412	EPB41L2 Human Pre-designed siRNA Set A	/	Unkown
HY-RS04413	EPB41L3 Human Pre-designed siRNA Set A	/	Unkown
HY-RS04414	EPB41L4A Human Pre-designed siRNA Set A	/	Unkown
HY-RS04415	EPB41L4B Human Pre-designed siRNA Set A	/	Unkown
HY-RS04416	EPB41L5 Human Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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