• Gene id: 2036

Gene Summary

• Gene Symbol: EPB41L1   Gene   UCSC   Ensembl
• Aliases: 4.1N, MRD11
• Gene name: erythrocyte membrane protein band 4.1 like 1
• Alternate names: band 4.1-like protein 1, neuron-type nonerythroid protein 4.1, neuronal protein 4.1,
• Gene location: 20q11.23 (36064890: 36232798)     Exons: 36     NC_000020.11
• Gene summary(Entrez): Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neur
• OMIM: 602879

Protein Summary

• Protein general information: Q9H4G0  
  • Name: Band 4.1 like protein 1 (Neuronal protein 4.1) (4.1N)
  • Length: 881  
  • Mass: 98503
  • Tissue specificity: Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.
• Sequence:

  MTTETGPDSEVKKAQEEAPQQPEAAAAVTTPVTPAGHGHPEANSNEKHPSQQDTRPAEQSLDMEEKDYSEADGLS
  ERTTPSKAQKSPQKIAKKYKSAICRVTLLDASEYECEVEKHGRGQVLFDLVCEHLNLLEKDYFGLTFCDADSQKN
  WLDPSKEIKKQIRSSPWNFAFTVKFYPPDPAQLTEDITRYYLCLQLRADIITGRLPCSFVTHALLGSYAVQAELG
  DYDAEEHVGNYVSELRFAPNQTRELEERIMELHKTYRGMTPGEAEIHFLENAKKLSMYGVDLHHAKDSEGIDIML
  GVCANGLLIYRDRLRINRFAWPKILKISYKRSNFYIKIRPGEYEQFESTIGFKLPNHRSAKRLWKVCIEHHTFFR
  LVSPEPPPKGFLVMGSKFRYSGRTQAQTRQASALIDRPAPFFERSSSKRYTMSRSLDGAEFSRPASVSENHDAGP
  DGDKRDEDGESGGQRSEAEEGEVRTPTKIKELKPEQETTPRHKQEFLDKPEDVLLKHQASINELKRTLKEPNSKL
  IHRDRDWERERRLPSSPASPSPKGTPEKANERAGLREGSEEKVKPPRPRAPESDTGDEDQDQERDTVFLKDNHLA
  IERKCSSITVSSTSSLEAEVDFTVIGDYHGSAFEDFSRSLPELDRDKSDSDTEGLLFSRDLNKGAPSQDDESGGI
  EDSPDRGACSTPDMPQFEPVKTETMTVSSLAIRKKIEPEAVLQTRVSAMDNTQQVDGSASVGREFIATTPSITTE
  TISTTMENSLKSGKGAAAMIPGPQTVATEIRSLSPIIGKDVLTSTYGATAETLSTSTTTHVTKTVKGGFSETRIE
  KRIIITGDEDVDQDQALALAIKEAKLQHPDMLVTKAVVYRETDPSPEERDKKPQES

• Structural information:
  • Protein Domains: (97..37-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR008379  IPR019749  IPR000798  IPR014847  IPR014352   IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR007477  IPR029071  
  • Prosite: PS00660 PS00661 PS50057
  • CDD: cd14473
  • STRING: ENSP00000337168
• Other Databases: GeneCards:  EPB41L1  Malacards:  EPB41L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031032	actomyosin structure organization	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
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:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)