Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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 PAK Pathway. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is FRMD3.

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.

Gene Wiki entry for EPB41 Gene

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

Genomics for EPB41 Gene

Regulatory Elements for EPB41 Gene

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

ENSRs around EPB41 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPB41 Gene

Chromosome:
1
Start:
28,887,091 bp from pter
End:
29,120,046 bp from pter
Size:
232,956 bases
Orientation:
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:
    P11171-41_HUMAN
    Recommended name:
    Protein 4.1
    Protein Accession:
    P11171
    Secondary Accessions:
    • B1ALH8
    • B1ALH9
    • D3DPM9
    • D3DPN0
    • P11176
    • Q14245
    • Q5TB35
    • Q5VXN8
    • Q8IXV9
    • Q9Y578
    • Q9Y579

    Protein attributes for EPB41 Gene

    Size:
    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. Binds calmodulin, CENPJ and DLG1. Also found to associate with contractile apparatus and tight junctions.

    Three dimensional structures from OCA and Proteopedia for EPB41 Gene

    Alternative splice isoforms for EPB41 Gene

neXtProt entry for EPB41 Gene

Proteomics data for EPB41 Gene at MOPED

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

Antibody Products

No data available for DME Specific Peptides for EPB41 Gene

Domains & Families for EPB41 Gene

Gene Families for EPB41 Gene

Suggested Antigen Peptide Sequences for EPB41 Gene

Graphical View of Domain Structure for InterPro Entry

P11171

UniProtKB/Swiss-Prot:

41_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with EPB41: view

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.

Gene Ontology (GO) - Molecular Function for EPB41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008092 cytoskeletal protein 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

  • Taconic Biosciences Mouse Models for EPB41

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for EPB41 Gene COMPARTMENTS Subcellular localization image for EPB41 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
nucleus 4
cytosol 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for EPB41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008091 spectrin TAS 6894932
GO:0016020 membrane IEA --
GO:0030054 cell junction IDA --
GO:0043234 protein complex IDA 16060676
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

Pathways by source for EPB41 Gene

1 BioSystems pathway for EPB41 Gene
1 KEGG pathway for EPB41 Gene

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:0032092 positive regulation of protein binding IEA,IDA 3693401
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 308
Nicotine Approved Pharma Antagonist 973

(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

Inhibitory RNA Products

Flow Cytometry Products

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: - -
SP8:
SP9:
SP10:
SP11: - - - - -
SP12: -

ExUns: 19c ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7:
SP8: -
SP9: - - - -
SP10: - -
SP11:
SP12:

Relevant External Links for EPB41 Gene

GeneLoc Exon Structure for
EPB41
ECgene alternative splicing isoforms for
EPB41

Expression for EPB41 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for EPB41 Gene



SOURCE GeneReport for Unigene cluster for EPB41 Gene Hs.175437

genes like me logo Genes that share expression patterns with EPB41: view

Protein tissue co-expression partners for EPB41 Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia EPB41 36
  • 99 (a)
OneToOne
EPB41 35
  • 99.61 (n)
  • 99.42 (a)
cow
(Bos Taurus)
Mammalia EPB41 36
  • 85 (a)
OneToOne
EPB41 35
  • 92.17 (n)
  • 95.46 (a)
dog
(Canis familiaris)
Mammalia EPB41 35
  • 91.1 (n)
  • 92.71 (a)
EPB41 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1 36
  • 92 (a)
OneToOne
Epb41 16
Epb4.1 35
  • 88.2 (n)
  • 91.94 (a)
oppossum
(Monodelphis domestica)
Mammalia EPB41 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epb4.1 35
  • 86.66 (n)
  • 89.91 (a)
chicken
(Gallus gallus)
Aves EPB41 35
  • 73.99 (n)
  • 78.75 (a)
EPB41 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397741 35
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41 35
  • 68.98 (n)
  • 72.01 (a)
Str.10345 35
zebrafish
(Danio rerio)
Actinopterygii epb41a 36
  • 50 (a)
OneToMany
epb41b 36
  • 17 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5022 37
  • 37 (a)
cora 37
  • 59 (a)
cora 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for EPB41:
  • 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

ENSEMBL:
Gene Tree for EPB41 (if available)
TreeFam:
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
rs111642750 - 28,993,501(+) GCAAG(A/G)TTTCT reference, missense
rs149933 -- 28,924,124(-) ttact(C/G)acaga intron-variant
rs150082 -- 28,917,939(-) ACCAA(A/C)AATTA intron-variant
rs150083 -- 28,923,958(-) tgctg(A/T)attct intron-variant
rs157194 -- 28,909,207(+) TTTTT(A/G)AAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2672867 CNV Deletion 23128226
esv2673135 CNV Deletion 23128226
nsv511687 CNV Loss 21212237
esv25713 CNV Loss 19812545
esv2745852 CNV Deletion 23290073
esv2670595 CNV Deletion 23128226
nsv7579 CNV Loss 18451855
nsv509091 CNV Insertion 20534489
esv2745863 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
EPB41
Human Gene Mutation Database (HGMD)
EPB41

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

Disorders for EPB41 Gene

MalaCards: The human disease database

(11) MalaCards diseases for EPB41 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
elliptocytosis-1
  • elliptocytosis 1
hereditary elliptocytosis
  • congenital elliptocytosis
serous labyrinthitis
  • acute serous labyrinthitis
purulent labyrinthitis
  • acute suppurative labyrinthitis
labyrinthitis
  • labyrinthitis nos
- elite association - COSMIC cancer census association via MalaCards
Search EPB41 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

41_HUMAN
  • 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)
EPB41
Human Genome Epidemiology (HuGE) Navigator
EPB41
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPB41
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 C.M. … Correas I. (J. Biol. Chem. 2003) 3 4 23 67
  2. 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. (Biochem. J. 2009) 3 23
  3. Alternatively spliced exon 5 of the FERM domain of protein 4.1R encodes a novel binding site for erythrocyte p55 and is critical for membrane targeting in epithelial cells. (PMID: 18952129) Seo P.S. … Chishti A.H. (Biochim. Biophys. Acta 2009) 3 23
  4. [Expression and significance of membrane skeleton protein 4.1 family in non-small cell lung cancer]. (PMID: 19624891) Zheng X.Y. … An X.L. (Ai Zheng 2009) 3 23
  5. 4.1R-deficient human red blood cells have altered phosphatidylserine exposure pathways and are deficient in CD44 and CD47 glycoproteins. (PMID: 19794081) Jeremy K.P. … Avent N.D. (Haematologica 2009) 3 23

Products for EPB41 Gene

Sources for EPB41 Gene

Back to Top

Content