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Epb41l5 erythrocyte membrane protein band 4.1 like 5 [ Mus musculus (house mouse) ]

Gene ID: 226352, updated on 11-Apr-2024

Summary

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Official Symbol
Epb41l5provided by MGI
Official Full Name
erythrocyte membrane protein band 4.1 like 5provided by MGI
Primary source
MGI:MGI:103006
See related
Ensembl:ENSMUSG00000026383 AllianceGenome:MGI:103006
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
BE37; NBL5; Lulu1; Epb4.1l5; 1700030C16Rik; E230025E14Rik
Summary
Enables protein domain specific binding activity. Involved in epithelial to mesenchymal transition. Acts upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in focal adhesion and ruffle membrane. Is expressed in several structures, including foregut; lung; metanephros; neural tube; and primitive streak. Orthologous to human EPB41L5 (erythrocyte membrane protein band 4.1 like 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 3.5), placenta adult (RPKM 3.3) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
1 E2.3; 1 52.32 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (119472762..119576826, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (119545032..119649096, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 3830432H09 gene Neighboring gene STARR-seq mESC enhancer starr_02036 Neighboring gene transmembrane protein 185B Neighboring gene STARR-positive B cell enhancer mm9_chr1:121445258-121445559 Neighboring gene predicted gene, 25322 Neighboring gene STARR-seq mESC enhancer starr_02037 Neighboring gene STARR-seq mESC enhancer starr_02040 Neighboring gene protein tyrosine phosphatase, non-receptor type 4 Neighboring gene STARR-seq mESC enhancer starr_02042 Neighboring gene High mobility group protein 1 (HMG-1) (Amphoterin) (Heparin-binding protein p30) Neighboring gene Acidic ribosomal phosphoprotein P0 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission. Maier JI, et al. Cell Rep, 2021 Mar 23. PMID 33761352
  2. Epithelial cell shape is regulated by Lulu proteins via myosin-II. Nakajima H, et al. J Cell Sci, 2010 Feb 15. PMID 20103536
  3. Left-right patterning in the mouse requires Epb4.1l5-dependent morphogenesis of the node and midline. Lee JD, et al. Dev Biol, 2010 Oct 15. PMID 20678497, Free PMC Article
  4. Structural diversity of band 4.1 superfamily members. Takeuchi K, et al. J Cell Sci, 1994 Jul. PMID 7983158
  5. FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex. Gosens I, et al. Exp Cell Res, 2007 Nov 15. PMID 17920587

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
    Title: EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
  2. Genetic deletion of Epb41l5 resulted in severe proteinuria, detachment of podocytes, and development of focal segmental glomerulosclerosis. Remarkably, by binding and recruiting the RhoGEF ARGHEF18 to the leading edge, EPB41L5 directly controls actomyosin contractility and subsequent maturation of focal adhesions, cell spreading, and migration.
    Title: The FERM protein EPB41L5 regulates actomyosin contractility and focal adhesion formation to maintain the kidney filtration barrier.
  3. Left-right patterning in the mouse requires Epb4.1l5-dependent morphogenesis of the node and midline
    Title: Left-right patterning in the mouse requires Epb4.1l5-dependent morphogenesis of the node and midline.
  4. Results describe the involvement of EPB41L5 in epithelial-mesenchymal transition during mouse gastrulation.
    Title: EPB41L5 functions to post-transcriptionally regulate cadherin and integrin during epithelial-mesenchymal transition.
  5. Lulu mutation in Epb4.1l5 helps anchor the actin-myosin contractile machinery to the membrane to allow the dynamic rearrangements of epithelia that mediate embryonic morphogenesis.
    Title: The FERM protein Epb4.1l5 is required for organization of the neural plate and for the epithelial-mesenchymal transition at the primitive streak of the mouse embryo.
  6. the importance of a conserved Crumbs-MPP5-EPB41L5 polarity complex in mammals for separation of the apical and basolateral domains through specialized cell-cell junctions
    Title: FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables cytoskeletal protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within actomyosin structure organization IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within apical constriction IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within axial mesoderm development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within axial mesoderm morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cellular response to transforming growth factor beta stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within ectoderm development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic foregut morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within endoderm development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within epithelial cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within left/right axis specification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within mesoderm development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within mesoderm migration involved in gastrulation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within neural plate morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within paraxial mesoderm development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within post-transcriptional regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of establishment of protein localization IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within somite rostral/caudal axis specification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within somitogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within substrate-dependent cell migration, cell attachment to substrate IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within unidimensional cell growth IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
located_in cell leading edge IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in focal adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in ruffle membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
band 4.1-like protein 5
Names
erythrocyte protein band 4.1-like 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001113416.1 → NP_001106887.1  band 4.1-like protein 5 isoform 2

    See identical proteins and their annotated locations for NP_001106887.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2) that has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK161141, BY737035
    Consensus CDS
    CCDS48339.1
    UniProtKB/Swiss-Prot
    Q8BGS1
    Related
    ENSMUSP00000140227.2, ENSMUST00000191046.7
    Conserved Domains (4) summary
    smart00295
    Location:44 → 235
    B41; Band 4.1 homologues
    cd13186
    Location:231 → 324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41 → 126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)

  2. NM_145506.4 → NP_663481.2  band 4.1-like protein 5 isoform 1

    See identical proteins and their annotated locations for NP_663481.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC132393, AK044959, AK054177, BY737035
    Consensus CDS
    CCDS15226.1
    UniProtKB/Swiss-Prot
    Q3TJG0, Q69ZG8, Q8BGS1, Q8BSC9, Q99KZ8
    Related
    ENSMUSP00000058966.7, ENSMUST00000052404.13
    Conserved Domains (4) summary
    smart00295
    Location:44 → 235
    B41; Band 4.1 homologues
    cd13186
    Location:231 → 324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41 → 126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    119472762..119576826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006529399.4 → XP_006529462.1  band 4.1-like protein 5 isoform X2

    Conserved Domains (4) summary
    smart00295
    Location:44 → 235
    B41; Band 4.1 homologues
    cd13186
    Location:231 → 324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41 → 126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)

  2. XM_006529397.3 → XP_006529460.1  band 4.1-like protein 5 isoform X1

    See identical proteins and their annotated locations for XP_006529460.1

    UniProtKB/Swiss-Prot
    Q3TJG0, Q69ZG8, Q8BGS1, Q8BSC9, Q99KZ8
    Conserved Domains (4) summary
    smart00295
    Location:44 → 235
    B41; Band 4.1 homologues
    cd13186
    Location:231 → 324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41 → 126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)

  3. XM_006529398.3 → XP_006529461.1  band 4.1-like protein 5 isoform X1

    See identical proteins and their annotated locations for XP_006529461.1

    UniProtKB/Swiss-Prot
    Q3TJG0, Q69ZG8, Q8BGS1, Q8BSC9, Q99KZ8
    Conserved Domains (4) summary
    smart00295
    Location:44 → 235
    B41; Band 4.1 homologues
    cd13186
    Location:231 → 324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41 → 126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)

  4. XM_006529400.3 → XP_006529463.1  band 4.1-like protein 5 isoform X3

    See identical proteins and their annotated locations for XP_006529463.1

    UniProtKB/Swiss-Prot
    Q8BGS1
    Related
    ENSMUSP00000027632.8, ENSMUST00000027632.14
    Conserved Domains (4) summary
    smart00295
    Location:44 → 235
    B41; Band 4.1 homologues
    cd13186
    Location:231 → 324
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    cd17205
    Location:41 → 126
    FERM_F1_EPB41L5; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in erythrocyte membrane protein band 4.1-like 5 (EPB41L5)
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BGS1.1 GenPept UniProtKB/Swiss-Prot:Q8BGS1

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