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

Summary

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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
Title: EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
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.
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.
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.
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.
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)

Gene trapped (2) 1 citation
Targeted (3) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127907 (e-PCR)
- UniSTS:211217

RH126768 (e-PCR)
- UniSTS:207200

RH136554 (e-PCR)
- UniSTS:210536

MHAa21a5.seq (e-PCR)
- UniSTS:125073

RH125378 (e-PCR)
- UniSTS:162200

D1Mit366 (e-PCR), detects polymorphism
- UniSTS:128725

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)

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)
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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

119472762..119576826 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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)