EPB41 - erythrocyte membrane protein band 4.1 Gene

Also Known as HE; EL1; 4.1R

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2035

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 1-phosphatidylinositol binding	IDA IDA: Inferred from direct assay	16669616	GOA
enables phosphoprotein binding	IMP IMP: Inferred from mutant phenotype	20109190	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8922391	GOA
enables structural constituent of cytoskeleton	IMP IMP: Inferred from mutant phenotype	6894932	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of protein binding	IDA IDA: Inferred from direct assay	3693401	GOA
involved in positive regulation of protein localization to cell cortex	IMP IMP: Inferred from mutant phenotype	23870127	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell cortex	IDA IDA: Inferred from direct assay	23870127	GOA
located in cortical cytoskeleton	IDA IDA: Inferred from direct assay	16254212	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	6894932	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	16060676	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	20109190	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

EPB41 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89828	EPB41 Antibody (YA9172)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

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	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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04410	EPB41 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04411	EPB41L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04412	EPB41L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04413	EPB41L3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04414	EPB41L4A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04415	EPB41L4B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04416	EPB41L5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22488	Epb41 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	EPB41	NCBI