• Gene id: 2035

Gene Summary

• Gene Symbol: EPB41   Gene   UCSC   Ensembl
• Aliases: 4.1R, EL1, HE
• Gene name: erythrocyte membrane protein band 4.1
• Alternate names: protein 4.1, EPB4.1, P4.1, band 4.1, elliptocytosis 1, RH-linked, erythrocyte surface protein band 4.1,
• Gene location: 1p35.3 (28887090: 29120045)     Exons: 28     NC_000001.11
• Gene summary(Entrez): 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 ellipto
• OMIM: 601212

Protein Summary

• Protein general information: P11171  
  • Name: Protein 4.1 (P4.1) (4.1R) (Band 4.1) (EPB4.1)
  • Length: 864  
  • Mass: 97017
• Sequence:

  MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSE
  SRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSL
  SSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECV
  VEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDI
  TRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYR
  SMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGLLVYKDKLRINRFPWPKVLKISYKRSSFFIK
  IRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALID
  RPAPHFERTASKRASRSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKED
  EPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIYIRHSNLMLEDLDKSQ
  EEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNINGQIPTGEGPPLVKTQTVTISDNANAVKSEI
  PTKDVPIVHTETKTITYEAAQTDDNSGDLDPGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGD
  ADIDHDQVLVQAIKEAKEQHPDMSVTKVVVHQETEIADE

• Structural information:
  • Protein Domains: (210..49-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR008379  IPR019749  IPR021187  IPR000798  IPR014847   IPR014352  IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR007477  IPR029071  
  • Prosite: PS00660 PS00661 PS50057
  • CDD: cd14473
  • PDB: 1GG3 2RQ1 3QIJ
  • PDBsum: 1GG3 2RQ1 3QIJ
  • DIP: 17032
  • STRING: ENSP00000345259
• Other Databases: GeneCards:  EPB41  Malacards:  EPB41

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031032	actomyosin structure organization	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0099738	cell cortex region	IDA	cellular component
GO:1904778	positive regulation of protein localization to cell cortex	IMP	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0051924	regulation of calcium ion transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904478	regulation of intestinal absorption	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005198	structural molecule activity	IEA	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0030866	cortical actin cytoskeleton organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:1904478	regulation of intestinal absorption	IEA	biological process
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0051924	regulation of calcium ion transport	IEA	biological process
GO:0032092	positive regulation of protein binding	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0030507	spectrin binding	TAS	molecular function
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0014731	spectrin-associated cytoskeleton	TAS	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008360	regulation of cell shape	IMP	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:0005886	plasma membrane	IMP	cellular component
GO:0008022	protein C-terminus binding	IMP	molecular function
GO:0051219	phosphoprotein binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IMP	molecular function
GO:0005545	1-phosphatidylinositol binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0030863	cortical cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Hereditary elliptocytosis	KEGG:H00231
Hereditary elliptocytosis	KEGG:H00231
Hereditary elliptocytosis	PMID:17994571
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq