• Gene id: 57669

Gene Summary

• Gene Symbol: EPB41L5   Gene   UCSC   Ensembl
• Aliases: BE37, LULU, LULU1, YMO1, YRT
• Gene name: erythrocyte membrane protein band 4.1 like 5
• Alternate names: band 4.1-like protein 5, yurt homolog,
• Gene location: 2q14.2 (120013031: 120179118)     Exons: 4     NC_000002.12
• OMIM: 611730

Protein Summary

• Protein general information: Q9HCM4  
  • Name: Band 4.1 like protein 5
  • Length: 733  
  • Mass: 81856
• Sequence:

  MLSFFRRTLGRRSMRKHAEKERLREAQRAATHIPAAGDSKSIITCRVSLLDGTDVSVDLPKKAKGQELFDQIMYH
  LDLIESDYFGLRFMDSAQVAHWLDGTKSIKKQVKIGSPYCLHLRVKFYSSEPNNLREELTRYLFVLQLKQDILSG
  KLDCPFDTAVQLAAYNLQAELGDYDLAEHSPELVSEFRFVPIQTEEMELAIFEKWKEYRGQTPAQAETNYLNKAK
  WLEMYGVDMHVVKARDGNDYSLGLTPTGVLVFEGDTKIGLFFWPKITRLDFKKNKLTLVVVEDDDQGKEQEHTFV
  FRLDHPKACKHLWKCAVEHHAFFRLRGPVQKSSHRSGFIRLGSRFRYSGKTEYQTTKTNKARRSTSFERRPSKRY
  SRRTLQMKACATKPEELSVHNNVSTQSNGSQQAWGMRSALPVSPSISSAPVPVEIENLPQSPGTDQHDRKCIPLN
  IDLLNSPDLLEATIGDVIGASDTMETSQALNDVNVATRLPGLGEPEVEYETLKDTSEKLKQLEMENSPLLSPRSN
  IDVNINSQEEVVKLTEKCLNNVIESPGLNVMRVPPDFKSNILKAQVEAVHKVTKEDSLLSHKNANVQDAATNSAV
  LNENNVPLPKESLETLMLITPADSGSVLKEATDELDALLASLTENLIDHTVAPQVSSTSMITPRWIVPQSGAMSN
  GLAGCEMLLTGKEGHGNKDGISLISPPAPFLVDAVTSSGPILAEEAVLKQKCLLTTEL

• Structural information:
  • Protein Domains: (43..32-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR030694  IPR019749  IPR000798  IPR014847  IPR014352   IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR029071  
  • Prosite: PS00660 PS00661 PS50057
  • CDD: cd14473
  • STRING: ENSP00000263713
• Other Databases: GeneCards:  EPB41L5  Malacards:  EPB41L5

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:0005912	adherens junction	IEA	cellular component
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0001839	neural plate morphogenesis	IEA	biological process
GO:0001954	positive regulation of cell-matrix adhesion	IEA	biological process
GO:0003383	apical constriction	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0007509	mesoderm migration involved in gastrulation	IEA	biological process
GO:0009826	unidimensional cell growth	IEA	biological process
GO:0010634	positive regulation of epithelial cell migration	IEA	biological process
GO:0022408	negative regulation of cell-cell adhesion	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0031032	actomyosin structure organization	IEA	biological process
GO:0032091	negative regulation of protein binding	IEA	biological process
GO:0032092	positive regulation of protein binding	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0048318	axial mesoderm development	IEA	biological process
GO:0048319	axial mesoderm morphogenesis	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0000904	cell morphogenesis involved in differentiation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	IEA	biological process
GO:0003382	epithelial cell morphogenesis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0006931	substrate-dependent cell migration, cell attachment to substrate	IEA	biological process
GO:0007398	ectoderm development	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0010608	posttranscriptional regulation of gene expression	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0031252	cell leading edge	IEA	cellular component
GO:0032525	somite rostral/caudal axis specification	IEA	biological process
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0048617	embryonic foregut morphogenesis	IEA	biological process
GO:0051894	positive regulation of focal adhesion assembly	IEA	biological process
GO:0070201	regulation of establishment of protein localization	IEA	biological process
GO:0070986	left/right axis specification	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)