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Aliases for EPB41 Gene

Aliases for EPB41 Gene

  • Erythrocyte Membrane Protein Band 4.1 2 3 5
  • Elliptocytosis 1, RH-Linked 2 3
  • Band 4.1 3 4
  • EPB4.1 3 4
  • 4.1R 3 4
  • P4.1 3 4
  • Erythrocyte Surface Protein Band 4.1 3
  • Protein 4.1 3
  • E41P 4
  • EL1 3
  • HE 3

External Ids for EPB41 Gene

Previous HGNC Symbols for EPB41 Gene

  • EL1

Previous GeneCards Identifiers for EPB41 Gene

  • GC01P029320
  • GC01P028379
  • GC01P028718
  • GC01P029002
  • GC01P029003
  • GC01P029034
  • GC01P029213
  • GC01P027466

Summaries for EPB41 Gene

Entrez Gene Summary for EPB41 Gene

  • 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]

GeneCards Summary for EPB41 Gene

EPB41 (Erythrocyte Membrane Protein Band 4.1) is a Protein Coding gene. Diseases associated with EPB41 include Elliptocytosis-1 and Hereditary Elliptocytosis. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Syndecan-2-mediated signaling events. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is EPB41L2.

UniProtKB/Swiss-Prot for EPB41 Gene

  • Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).

Gene Wiki entry for EPB41 Gene

Additional gene information for EPB41 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41 Gene

Genomics for EPB41 Gene

Regulatory Elements for EPB41 Gene

Enhancers for EPB41 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H028925 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.2 +41.2 41236 6.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 YY1 SLC30A9 ZNF766 ENSG00000233427 EPB41 MECR PTPRU GC01M028891 RPL27P4
GH01H028881 2 FANTOM5 Ensembl ENCODE dbSUPER 8.4 -1.8 -1849 6.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 SRSF4 TRNAU1AP GMEB1 SNHG12 YTHDF2 TMEM200B PHACTR4 RCC1 EYA3 ENSG00000237934
GH01H028983 1.1 Ensembl ENCODE 10.4 +96.8 96788 0.9 FOXA2 ARID4B DMAP1 RAD21 YY1 MIXL1 THAP11 CEBPB REST TGIF2 EPB41 RPL27P4 ENSG00000206704
GH01H029178 1.4 ENCODE dbSUPER 6.1 +294.0 294035 4.9 MLX FEZF1 DMAP1 YY1 ZNF143 SP3 ZC3H11A PPARGC1A MEF2D ZNF610 GMEB1 TRNAU1AP SRSF4 YTHDF2 SNORA73B SNHG12 SNHG3 ENSG00000237934 TAF12 DNAJC8
GH01H029121 1.6 FANTOM5 ENCODE dbSUPER 5.3 +236.6 236621 4.9 HDGF ATF1 SIN3A ETS1 ZNF121 GLIS2 ZNF143 KLF7 SP3 ZNF592 TMEM200B MECR EPB41 PIR34079 GC01P029082
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPB41 on UCSC Golden Path with GeneCards custom track

Promoters for EPB41 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for EPB41 Gene

Genomic Locations for EPB41 Gene
232,956 bases
Plus strand

Genomic View for EPB41 Gene

Genes around EPB41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41 Gene

Proteins for EPB41 Gene

  • Protein details for EPB41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein 4.1
    Protein Accession:
    Secondary Accessions:
    • B1ALH8
    • B1ALH9
    • D3DPM9
    • D3DPN0
    • P11176
    • Q14245
    • Q5TB35
    • Q5VXN8
    • Q8IXV9
    • Q9Y578
    • Q9Y579

    Protein attributes for EPB41 Gene

    864 amino acids
    Molecular mass:
    97017 Da
    Quaternary structure:
    • Binds with a high affinity to glycophorin and with lower affinity to band III protein. Associates with the nuclear mitotic apparatus. Interacts with calmodulin (PubMed:10692436). Interacts with CENPJ (PubMed:11003675). Interacts with DLG1 (PubMed:7937897). Also found to associate with contractile apparatus and tight junctions. Interacts with NUMA1; this interaction is negatively regulated by CDK1 during metaphase and promotes anaphase-specific localization of NUMA1 in symmetrically dividing cells (PubMed:23870127).

    Three dimensional structures from OCA and Proteopedia for EPB41 Gene

    Alternative splice isoforms for EPB41 Gene

neXtProt entry for EPB41 Gene

Post-translational modifications for EPB41 Gene

  • O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain.
  • Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates the proteins functions.
  • Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary complex.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EPB41 Gene

Domains & Families for EPB41 Gene

Gene Families for EPB41 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for EPB41 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EPB41: view

No data available for UniProtKB/Swiss-Prot for EPB41 Gene

Function for EPB41 Gene

Molecular function for EPB41 Gene

GENATLAS Biochemistry:
erythrocyte surface protein,band 4.1,80kDa,with a complex tissue-specific and developmentally regulated erythroid and non erythroid expression pattern resulting from extensive alternative pre m-RNA splicing,two possible initiation sites and post translational modification,located in cytoplasm and/or nucleus in non erythroid cells,binding F-actin to spectrin dimers and crucial for the maintenance of integral membrane red blood cell shape,ezrin/moesin/radixin-like (ERM) family member, responding and participating in reorganization of membrane-cytoplasmic interactions
UniProtKB/Swiss-Prot Function:
Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes. Required for dynein-dynactin complex and NUMA1 recruitment at the mitotic cell cortex during anaphase (PubMed:23870127).

Phenotypes From GWAS Catalog for EPB41 Gene

Gene Ontology (GO) - Molecular Function for EPB41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton TAS 6894932
GO:0005515 protein binding IPI 8922391
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with EPB41: view
genes like me logo Genes that share phenotypes with EPB41: view

Human Phenotype Ontology for EPB41 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPB41 Gene

MGI Knock Outs for EPB41:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for EPB41

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPB41 Gene

Localization for EPB41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPB41 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 4
golgi apparatus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPB41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IMP 6894932
genes like me logo Genes that share ontologies with EPB41: view

Pathways & Interactions for EPB41 Gene

genes like me logo Genes that share pathways with EPB41: view

SIGNOR curated interactions for EPB41 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EPB41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IEA --
GO:0006810 transport IEA --
GO:0007049 cell cycle IEA --
GO:0008360 regulation of cell shape IMP 6894932
GO:0030036 actin cytoskeleton organization NAS 8434260
genes like me logo Genes that share ontologies with EPB41: view

Drugs & Compounds for EPB41 Gene

(3) Drugs for EPB41 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bupropion Approved Pharma 337
Nicotine Approved Pharma Antagonist 1148

(1) Additional Compounds for EPB41 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EPB41: view

Transcripts for EPB41 Gene

Unigene Clusters for EPB41 Gene

Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked):
Representative Sequences:

CRISPR Products

Clone Products

  • Addgene plasmids for EPB41

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ·
SP1: -
SP2: -
SP3: - - -
SP4: - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - -
SP11: - - - - -
SP12: -

ExUns: 19c ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - -
SP8: -
SP9: - - - -
SP10: - -

Relevant External Links for EPB41 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPB41 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPB41 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPB41 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.1), Brain - Cerebellum (x5.1), and Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED for EPB41 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.0), Lavage (10.0), and Lymph node (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPB41 Gene

Protein tissue co-expression partners for EPB41 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPB41 Gene:


SOURCE GeneReport for Unigene cluster for EPB41 Gene:


Evidence on tissue expression from TISSUES for EPB41 Gene

  • Blood(4.6)
  • Liver(4.6)
  • Nervous system(4.6)
  • Eye(2.6)
  • Kidney(2.2)
  • Lung(2.2)
  • Adrenal gland(2.1)
  • Muscle(2.1)
  • Bone marrow(2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB41 Gene

Germ Layers:
  • mesoderm
  • cardiovascular
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with EPB41: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for EPB41 Gene

Orthologs for EPB41 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia EPB41 33 34
  • 99.61 (n)
(Bos Taurus)
Mammalia EPB41 33 34
  • 92.17 (n)
(Canis familiaris)
Mammalia EPB41 33 34
  • 91.1 (n)
(Mus musculus)
Mammalia Epb4.1 33 34
  • 88.2 (n)
Epb41 16
(Rattus norvegicus)
Mammalia Epb4.1 33
  • 86.66 (n)
(Monodelphis domestica)
Mammalia EPB41 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia EPB41 34
  • 69 (a)
(Gallus gallus)
Aves EPB41 33 34
  • 73.99 (n)
(Anolis carolinensis)
Reptilia EPB41 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41 33
  • 68.98 (n)
Str.10345 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397741 33
(Danio rerio)
Actinopterygii epb41a 34
  • 50 (a)
epb41b 34
  • 17 (a)
fruit fly
(Drosophila melanogaster)
Insecta cora 35 34
  • 59 (a)
CG5022 35
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
Species where no ortholog for EPB41 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPB41 Gene

Gene Tree for EPB41 (if available)
Gene Tree for EPB41 (if available)

Paralogs for EPB41 Gene

genes like me logo Genes that share paralogs with EPB41: view

Variants for EPB41 Gene

Sequence variations from dbSNP and Humsavar for EPB41 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121434564 Pathogenic 28,993,490(+) GAACA(C/G/T)GCACT reference, missense
rs869025285 Pathogenic 29,018,389(+) GCCCC(-/GAATCAG)ACCAA reference, frameshift-variant
rs1000014912 -- 29,119,299(+) GTGTA(-/TG)TGTGT intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1000015671 -- 28,924,821(+) GGACA(C/G)GGTCT intron-variant
rs1000022462 -- 29,037,490(+) CTAGT(C/T)TCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPB41 Gene

Variant ID Type Subtype PubMed ID
nsv945858 CNV duplication 23825009
nsv7579 CNV deletion 18451855
nsv511687 CNV loss 21212237
nsv509091 CNV insertion 20534489
nsv1133831 CNV deletion 24896259
nsv1121709 CNV deletion 24896259
nsv1012565 CNV loss 25217958
esv3585601 CNV loss 21293372
esv3585596 CNV loss 21293372
esv3585595 CNV loss 21293372
esv3560060 CNV deletion 23714750
esv3560049 CNV deletion 23714750
esv2745863 CNV deletion 23290073
esv2745852 CNV deletion 23290073
esv2673135 CNV deletion 23128226
esv2672867 CNV deletion 23128226
esv2670595 CNV deletion 23128226
esv25713 CNV loss 19812545

Variation tolerance for EPB41 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPB41 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41 Gene

Disorders for EPB41 Gene

MalaCards: The human disease database

(9) MalaCards diseases for EPB41 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • ovalocytosis
hereditary elliptocytosis
  • congenital elliptocytosis
serous labyrinthitis
  • acute serous labyrinthitis
purulent labyrinthitis
  • acute suppurative labyrinthitis
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
- elite association - COSMIC cancer census association via MalaCards
Search EPB41 in MalaCards View complete list of genes associated with diseases


  • Elliptocytosis 1 (EL1) [MIM:611804]: A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. {ECO:0000269 PubMed:3467321}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EPB41

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EPB41: view

No data available for Genatlas for EPB41 Gene

Publications for EPB41 Gene

  1. An alternative domain containing a leucine-rich sequence regulates nuclear cytoplasmic localization of protein 4.1R. (PMID: 12427749) Luque CM … Correas I (The Journal of biological chemistry 2003) 3 4 22 60
  2. Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization. (PMID: 11017195) Han BG … Jap BK (Nature structural biology 2000) 3 4 22 60
  3. Cortical dynein and asymmetric membrane elongation coordinately position the spindle in anaphase. (PMID: 23870127) Kiyomitsu T … Cheeseman IM (Cell 2013) 3 4 60
  4. Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population. (PMID: 20797695) Xue F … Rabie AB (Archives of oral biology 2010) 3 45 60
  5. Marked difference in membrane-protein-binding properties of the two isoforms of protein 4.1R expressed at early and late stages of erythroid differentiation. (PMID: 18691159) Nunomura W … Takakuwa Y (The Biochemical journal 2009) 3 22 60

Products for EPB41 Gene

  • Addgene plasmids for EPB41

Sources for EPB41 Gene

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