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Aliases for EPB41 Gene

Aliases for EPB41 Gene

  • Erythrocyte Membrane Protein Band 4.1 2 3
  • Elliptocytosis 1, RH-Linked 2 3
  • Band 4.1 3 4
  • EPB4.1 3 4
  • 4.1R 3 4
  • P4.1 3 4
  • EL1 3 6
  • Erythrocyte Surface Protein Band 4.1 3
  • Protein 4.1 3
  • E41P 4
  • HE 3

External Ids for EPB41 Gene

Previous Symbols for EPB41 Gene

  • EL1

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 pyropoikilocytosis. Among its related pathways are PAK Pathway and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. 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

Genomic Location for EPB41 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EPB41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41 Gene

Regulatory Elements 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

No data available for DME Specific Peptides for EPB41 Gene

Domains for EPB41 Gene

Suggested Antigen Peptide Sequences for EPB41 Gene

Graphical View of Domain Structure for InterPro Entry

P11171

UniProtKB/Swiss-Prot:

41_HUMAN
Domain:
  • Contains 1 FERM domain.:
    • P11171
genes like me logo Genes that share domains with EPB41: view

No data available for Gene Families 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

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 --
GO:0005200 structural constituent of cytoskeleton TAS 6894932
GO:0005515 protein binding IPI 10692436
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
nucleus 5
golgi apparatus 4
plasma membrane 4
cytosol 3

Gene Ontology (GO) - Cellular Components for EPB41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005856 cytoskeleton --
GO:0005886 plasma membrane IDA --
GO:0008091 spectrin TAS 6894932
genes like me logo Genes that share ontologies with EPB41: view

Pathways for EPB41 Gene

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

Pathways by source for EPB41 Gene

1 KEGG pathway for EPB41 Gene

Gene Ontology (GO) - Biological Process for EPB41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008015 blood circulation TAS 6894932
GO:0030036 actin cytoskeleton organization NAS 8434260
GO:0030866 cortical actin cytoskeleton organization IEA --
GO:0032092 positive regulation of protein binding IDA 3693401
genes like me logo Genes that share ontologies with EPB41: view

Compounds for EPB41 Gene

(2) Novoseek inferred chemical compound relationships for EPB41 Gene

Compound -log(P) Hits PubMed IDs
calcium 0 2
glutamate 0 1

(2) PharmGKB related drug/compound annotations for EPB41 Gene

Drug/compound Annotation
bupropion CA
nicotine CA
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:

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 (6.1), Brain - Cerebellum (5.1), and Whole Blood (4.6).

Integrated Proteomics: protein expression 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 expressions with EPB41: view

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 35
  • 99.61 (n)
  • 99.42 (a)
EPB41 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41 35
  • 92.17 (n)
  • 95.46 (a)
EPB41 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41 35
  • 91.1 (n)
  • 92.71 (a)
EPB41 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1 35
  • 88.2 (n)
  • 91.94 (a)
Epb4.1 16
Epb4.1 36
  • 92 (a)
OneToOne
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 cora 36
  • 18 (a)
OneToMany
CG5022 37
  • 37 (a)
cora 37
  • 59 (a)
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 MAF
rs126013 -- 28,893,758(-) GCAAA(G/T)GACAG intron-variant
rs126014 -- 28,893,666(+) AGAGG(A/G)AGGGC intron-variant
rs149913 -- 28,912,361(+) ggagg(C/G)tgttt intron-variant
rs149914 -- 28,941,033(-) ACTGT(A/G)AAATA intron-variant
rs149915 -- 28,903,960(+) ctccc(A/G)ggttc 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

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

(1) OMIM Diseases for EPB41 Gene (130500)

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. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary pyropoikilocytosis (HPP) [MIM:266140]: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for EPB41 Gene

(2) Novoseek inferred disease relationships for EPB41 Gene

Disease -log(P) Hits PubMed IDs
elliptocytosis hereditary 84.5 2
tumors 0 2

Relevant External Links for EPB41

Genetic Association Database (GAD)
EPB41
Human Genome Epidemiology (HuGE) Navigator
EPB41
genes like me logo Genes that share disorders with EPB41: view

Publications for EPB41 Gene

  1. Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization. (PMID: 11017195) Han B.-G. … Jap B.K. (Nat. Struct. Biol. 2000) 3 4 23
  2. 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
  3. Protein 4.1R, a microtubule-associated protein involved in microtubule aster assembly in mammalian mitotic extract. (PMID: 15184364) Huang S.C. … Benz E.J. (J. Biol. Chem. 2004) 3 23
  4. Protein 4.1R regulates interphase microtubule organization at the centrosome. (PMID: 15564380) PAcrez-Ferreiro C.M. … Correas I. (J. Cell. Sci. 2004) 3 23
  5. Modulation of erythrocyte membrane mechanical function by protein 4.1 phosphorylation. (PMID: 15611095) Manno S. … Mohandas N. (J. Biol. Chem. 2005) 3 23

Products for EPB41 Gene

Sources for EPB41 Gene

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