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EPB41L5 erythrocyte membrane protein band 4.1 like 5 [ Homo sapiens (human) ]

Gene ID: 57669, updated on 5-Mar-2024

Summary

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Official Symbol
EPB41L5provided by HGNC
Official Full Name
erythrocyte membrane protein band 4.1 like 5provided by HGNC
Primary source
HGNC:HGNC:19819
See related
Ensembl:ENSG00000115109 MIM:611730; AllianceGenome:HGNC:19819
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
YRT; BE37; LULU; YMO1; LULU1
Summary
Predicted to enable cytoskeletal protein binding activity and protein domain specific binding activity. Predicted to be involved in actomyosin structure organization. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic foregut morphogenesis; and mesoderm morphogenesis. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 10.7), thyroid (RPKM 7.3) and 24 other tissues See more
Orthologs
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Genomic context

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See EPB41L5 in Genome Data Viewer
Location:
2q14.2
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (120013077..120179119)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (120447844..120613882)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (120770653..120936695)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12882 Neighboring gene uncharacterized LOC107985817 Neighboring gene ribosomal protein L27 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120825855-120826442 Neighboring gene uncharacterized LOC105373582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16455 Neighboring gene MT-ATP6 pseudogene 26 Neighboring gene MT-CO3 pseudogene 43

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. EPB41L5 promotes EMT through the ERK/p38 MAPK signaling pathway in esophageal squamous cell carcinoma. Bao S, et al. Pathol Res Pract, 2021 Dec. PMID 34784520
  2. EPB41L5 is Associated With the Metastatic Potential of Low-grade Pancreatic Neuroendocrine Tumors. Saller J, et al. Cancer Genomics Proteomics, 2019 Sep-Oct. PMID 31467225, Free PMC Article
  3. EPB41L5 Mediates TGFβ-Induced Metastasis of Gastric Cancer. Jeong MH, et al. Clin Cancer Res, 2019 Jun 15. PMID 30814110
  4. ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5. Jeong JH, et al. Exp Mol Med, 2023 Jan. PMID 36596853, Free PMC Article
  5. EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission. Maier JI, et al. Cell Rep, 2021 Mar 23. PMID 33761352

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
    Title: ZBTB7A suppresses glioblastoma tumorigenesis through the transcriptional repression of EPB41L5.
  2. EPB41L5 promotes EMT through the ERK/p38 MAPK signaling pathway in esophageal squamous cell carcinoma.
    Title: EPB41L5 promotes EMT through the ERK/p38 MAPK signaling pathway in esophageal squamous cell carcinoma.
  3. EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
    Title: EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission.
  4. Increased expression of Erythrocyte membrane protein band 4.1-like 5 ( EPB41L5) in gastric cancer associated with poor prognosis and low survival rate. In experimental models, EPB41L5 mediated TGF induces metastasis.
    Title: EPB41L5 Mediates TGFβ-Induced Metastasis of Gastric Cancer.
  5. These results support further investigation into whether EPB41L5 is a biomarker of PNETs with high risk for metastases
    Title: EPB41L5 is Associated With the Metastatic Potential of Low-grade Pancreatic Neuroendocrine Tumors.
  6. Arf6 appears to be necessary for both RhoA- and Rac1-driven cancer invasion
    Title: Arf6 and its ZEB1-EPB41L5 mesenchymal axis are required for both mesenchymal- and amoeboid-type invasion of cancer cells.
  7. A diminution of EPB41L5-dependent signaling programs appears to be a common theme of podocyte disease, and therefore offers unexpected interventional therapeutic strategies to prevent podocyte loss and kidney disease progression.
    Title: The FERM protein EPB41L5 regulates actomyosin contractility and focal adhesion formation to maintain the kidney filtration barrier.
  8. YMO1 suppresses tumor invasion and metastasis by inhibiting RhoC activity.
    Title: YMO1 suppresses invasion and metastasis by inhibiting RhoC signaling and predicts favorable prognosis in hepatocellular carcinoma.
  9. The Squamous cell carcinoma of the tongue cell line SCC-9, which overexpress Arf6 and AMAP1, also expressed EPB41L5 at high levels to promote invasiveness, whereas the weakly invasive SCC-25 cells did not express EPB41L5 at notable levels.
    Title: High expression of EPB41L5, an integral component of the Arf6-driven mesenchymal program, correlates with poor prognosis of squamous cell carcinoma of the tongue.
  10. 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

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12957, KIAA1548

Gene Ontology Provided by GOA

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 IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in actomyosin structure organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in apical constriction IEA
Inferred from Electronic Annotation
more info
  
involved_in axial mesoderm morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in ectoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in embryonic foregut morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in endoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in left/right axis specification IEA
Inferred from Electronic Annotation
more info
  
involved_in mesoderm migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in neural plate morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in paraxial mesoderm development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of epithelial cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in post-transcriptional regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of establishment of protein localization IEA
Inferred from Electronic Annotation
more info
  
involved_in somite rostral/caudal axis specification IEA
Inferred from Electronic Annotation
more info
  
involved_in substrate-dependent cell migration, cell attachment to substrate IEA
Inferred from Electronic Annotation
more info
  
involved_in unidimensional cell growth IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in adherens junction IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in focal adhesion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in ruffle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
band 4.1-like protein 5
Names
yurt homolog

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_001184937.2 → NP_001171866.1  band 4.1-like protein 5 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region compared to variant 1. The resulting protein (isoform 2) has a shorter, distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC016691, AK023019, BC054508
    Consensus CDS
    CCDS54393.1
    UniProtKB/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000393856.2, ENST00000443902.6
    Conserved Domains (5) 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)
    pfam00373
    Location:128 → 235
    FERM_M; FERM central domain
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47 → 109
    FERM_N; FERM N-terminal domain

  2. NM_001184938.4 → NP_001171867.1  band 4.1-like protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001171867.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate exon in the 3' coding region compared to variant 1. The resulting protein (isoform 3) has a shorter, distinct C-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC016691, BC032822
    Consensus CDS
    CCDS54392.1
    UniProtKB/TrEMBL
    Q4ZG32
    Related
    ENSP00000393722.1, ENST00000443124.5
    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. NM_001184939.3 → NP_001171868.1  band 4.1-like protein 5 isoform 3

    See identical proteins and their annotated locations for NP_001171868.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) has a shorter, distinct C-terminus compared to isoform 1. Variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC016691, AK290895
    Consensus CDS
    CCDS54392.1
    UniProtKB/TrEMBL
    Q4ZG32
    Related
    ENSP00000329687.4, ENST00000331393.8
    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. NM_001330307.2 → NP_001317236.1  band 4.1-like protein 5 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 5' region, initiates translation at a downstream start codon, and contains an alternate 3' coding region and 3' UTR compared to variant 1. The encoded isoform (4) has a shorter N-terminus and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC016691

  5. NM_001330310.2 → NP_001317239.1  band 4.1-like protein 5 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC012363, AC016691, AC079879
    Consensus CDS
    CCDS82506.1
    UniProtKB/Swiss-Prot
    Q9HCM4
    Related
    ENSP00000390439.1, ENST00000452780.1
    Conserved Domains (5) 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)
    pfam00373
    Location:128 → 235
    FERM_M; FERM central domain
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47 → 109
    FERM_N; FERM N-terminal domain

  6. NM_020909.4 → NP_065960.2  band 4.1-like protein 5 isoform 1

    See identical proteins and their annotated locations for NP_065960.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC016691, BC054508
    Consensus CDS
    CCDS2130.1
    UniProtKB/Swiss-Prot
    Q7Z5S1, Q8IZ12, Q9H975, Q9HCM4
    Related
    ENSP00000263713.5, ENST00000263713.10
    Conserved Domains (5) 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)
    pfam00373
    Location:128 → 235
    FERM_M; FERM central domain
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47 → 109
    FERM_N; FERM N-terminal domain

RNA

  1. NR_135920.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016691, AK290895

  2. NR_138472.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC016691

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    120013077..120179119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445208.1 → XP_047301164.1  band 4.1-like protein 5 isoform X1

  2. XM_047445210.1 → XP_047301166.1  band 4.1-like protein 5 isoform X2

    UniProtKB/Swiss-Prot
    Q7Z5S1, Q8IZ12, Q9H975, Q9HCM4

  3. XM_006712651.2 → XP_006712714.1  band 4.1-like protein 5 isoform X1

    See identical proteins and their annotated locations for XP_006712714.1

    Conserved Domains (5) 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)
    pfam00373
    Location:128 → 235
    FERM_M; FERM central domain
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47 → 109
    FERM_N; FERM N-terminal domain

  4. XM_017004567.1 → XP_016860056.1  band 4.1-like protein 5 isoform X1

    Conserved Domains (5) 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)
    pfam00373
    Location:128 → 235
    FERM_M; FERM central domain
    pfam08736
    Location:337 → 377
    FA; FERM adjacent (FA)
    pfam09379
    Location:47 → 109
    FERM_N; FERM N-terminal domain

  5. XM_006712653.2 → XP_006712716.1  band 4.1-like protein 5 isoform X3

    Conserved Domains (5) summary
    smart00295
    Location:3 → 163
    B41; Band 4.1 homologues
    cd13186
    Location:159 → 252
    FERM_C_NBL4_NBL5; FERM domain C-lobe of Novel band 4.1-like protein 4 and 5 (NBL4 and 5)
    pfam00373
    Location:56 → 163
    FERM_M; FERM central domain
    pfam08736
    Location:265 → 305
    FA; FERM adjacent (FA)
    pfam09379
    Location:3 → 37
    FERM_N; FERM N-terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    120447844..120613882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343198.1 → XP_054199173.1  band 4.1-like protein 5 isoform X1

  2. XM_054343200.1 → XP_054199175.1  band 4.1-like protein 5 isoform X2

  3. XM_054343197.1 → XP_054199172.1  band 4.1-like protein 5 isoform X1

  4. XM_054343199.1 → XP_054199174.1  band 4.1-like protein 5 isoform X1

  5. XM_054343201.1 → XP_054199176.1  band 4.1-like protein 5 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCM4.3 GenPept UniProtKB/Swiss-Prot:Q9HCM4

Gene LinkOut

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