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

    Gene ID: 57669, updated on 3-Nov-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, Nov 2024]
    Expression
    Broad expression in testis (RPKM 10.7), thyroid (RPKM 7.3) and 24 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (120013077..120179119)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (120447844..120613882)
    RS_2024_09 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 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. High expression of EPB41L5, an integral component of the Arf6-driven mesenchymal program, correlates with poor prognosis of squamous cell carcinoma of the tongue. Otsuka Y, et al. Cell Commun Signal, 2016 Nov 21. PMID 27871329, 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 (77) 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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    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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