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EPB41

GENERAL INFORMATION

Gene name

 EPB41

Gene description

 Erythrocyte membrane protein band 4.1

Protein class

 Disease related genes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Transporters

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Tissue enhanced (cerebellum)
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Selective expression in erythrocytes.

DATA RELIABILITY

Data reliability
description

 Antibody staining in cells/structures not annotated, view images.

Reliability score

 Supported based on 1 antibody.
HPA028414
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 EPB41 (HGNC Symbol)

Synonyms

 4.1R, EL1

Description

 Erythrocyte membrane protein band 4.1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 1

Cytoband

 p35.3

Chromosome location (bp)

 28887091 - 29120046

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000159023 (version 83.38)

Entrez gene

 2035

UniProt

 P11171 (UniProt - Evidence at protein level)

neXtProt

 NX_P11171

Antibodypedia

 EPB41 antibodies

PROTEIN BROWSER
EPB41-001
EPB41-002
EPB41-003
EPB41-004
EPB41-005
EPB41-201
EPB41-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EPB41-001
ENSP00000362904
ENST00000373798
P11171 [Direct mapping]
Protein 4.1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005545 [1-phosphatidylinositol binding]
GO:0005634 [nucleus]
GO:0005794 [Golgi apparatus]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008015 [blood circulation]
GO:0008091 [spectrin]
GO:0008092 [cytoskeletal protein binding]
GO:0014731 [spectrin-associated cytoskeleton]
GO:0019898 [extrinsic component of membrane]
GO:0030036 [actin cytoskeleton organization]
GO:0030507 [spectrin binding]
GO:0030863 [cortical cytoskeleton]
GO:0030866 [cortical actin cytoskeleton organization]
GO:0032092 [positive regulation of protein binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
Show all
 864 aa
97 kDa 		No 0
EPB41-002
ENSP00000362903
ENST00000373797
P11171 [Direct mapping]
Protein 4.1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005545 [1-phosphatidylinositol binding]
GO:0005634 [nucleus]
GO:0005794 [Golgi apparatus]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008015 [blood circulation]
GO:0008091 [spectrin]
GO:0008092 [cytoskeletal protein binding]
GO:0014731 [spectrin-associated cytoskeleton]
GO:0019898 [extrinsic component of membrane]
GO:0030036 [actin cytoskeleton organization]
GO:0030507 [spectrin binding]
GO:0030863 [cortical cytoskeleton]
GO:0030866 [cortical actin cytoskeleton organization]
GO:0032092 [positive regulation of protein binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
Show all
 720 aa
81.2 kDa 		No 0
EPB41-003
ENSP00000362906
ENST00000373800
P11171 [Direct mapping]
Protein 4.1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005545 [1-phosphatidylinositol binding]
GO:0005634 [nucleus]
GO:0005794 [Golgi apparatus]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008015 [blood circulation]
GO:0008091 [spectrin]
GO:0008092 [cytoskeletal protein binding]
GO:0014731 [spectrin-associated cytoskeleton]
GO:0019898 [extrinsic component of membrane]
GO:0030036 [actin cytoskeleton organization]
GO:0030507 [spectrin binding]
GO:0030863 [cortical cytoskeleton]
GO:0030866 [cortical actin cytoskeleton organization]
GO:0032092 [positive regulation of protein binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
Show all
 588 aa
66.4 kDa 		No 0
EPB41-004
ENSP00000317597
ENST00000349460
P11171 [Direct mapping]
Protein 4.1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005545 [1-phosphatidylinositol binding]
GO:0005634 [nucleus]
GO:0005794 [Golgi apparatus]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008015 [blood circulation]
GO:0008091 [spectrin]
GO:0008092 [cytoskeletal protein binding]
GO:0014731 [spectrin-associated cytoskeleton]
GO:0019898 [extrinsic component of membrane]
GO:0030036 [actin cytoskeleton organization]
GO:0030507 [spectrin binding]
GO:0030863 [cortical cytoskeleton]
GO:0030866 [cortical actin cytoskeleton organization]
GO:0032092 [positive regulation of protein binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
Show all
 641 aa
72 kDa 		No 0
EPB41-005
ENSP00000290100
ENST00000347529
P11171 [Direct mapping]
Protein 4.1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005545 [1-phosphatidylinositol binding]
GO:0005634 [nucleus]
GO:0005794 [Golgi apparatus]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008015 [blood circulation]
GO:0008091 [spectrin]
GO:0008092 [cytoskeletal protein binding]
GO:0014731 [spectrin-associated cytoskeleton]
GO:0019898 [extrinsic component of membrane]
GO:0030036 [actin cytoskeleton organization]
GO:0030507 [spectrin binding]
GO:0030863 [cortical cytoskeleton]
GO:0030866 [cortical actin cytoskeleton organization]
GO:0032092 [positive regulation of protein binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
Show all
 775 aa
86.6 kDa 		No 0
EPB41-201
ENSP00000345259
ENST00000343067
P11171 [Direct mapping]
Protein 4.1
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005516 [calmodulin binding]
GO:0005545 [1-phosphatidylinositol binding]
GO:0005634 [nucleus]
GO:0005794 [Golgi apparatus]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0008015 [blood circulation]
GO:0008091 [spectrin]
GO:0008092 [cytoskeletal protein binding]
GO:0014731 [spectrin-associated cytoskeleton]
GO:0016020 [membrane]
GO:0019898 [extrinsic component of membrane]
GO:0030036 [actin cytoskeleton organization]
GO:0030507 [spectrin binding]
GO:0030863 [cortical cytoskeleton]
GO:0030866 [cortical actin cytoskeleton organization]
GO:0032092 [positive regulation of protein binding]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
Show all
 864 aa
97 kDa 		No 0
EPB41-202
ENSP00000348397
ENST00000356093
Q4VB86 [Direct mapping]
EPB41 protein; Protein 4.1
Show all
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005198 [structural molecule activity]
GO:0005737 [cytoplasm]
GO:0005856 [cytoskeleton]
GO:0008092 [cytoskeletal protein binding]
GO:0019898 [extrinsic component of membrane]
GO:0030866 [cortical actin cytoskeleton organization]
Show all
 622 aa
69.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.