Aliases for EPB41L5 Gene

Aliases for EPB41L5 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 5 2 3 5
  • Band 4.1-Like Protein 5 3 4
  • Yurt Homolog (Drosophila) 2
  • Yurt Homolog 3
  • KIAA1548 4
  • LULU1 3
  • BE37 3
  • LULU 3
  • YMO1 3
  • YRT 3

External Ids for EPB41L5 Gene

Previous GeneCards Identifiers for EPB41L5 Gene

  • GC02P118691
  • GC02P120677
  • GC02P120865
  • GC02P120486
  • GC02P113095
  • GC02P120770

Summaries for EPB41L5 Gene

GeneCards Summary for EPB41L5 Gene

EPB41L5 (Erythrocyte Membrane Protein Band 4.1 Like 5) is a Protein Coding gene. Among its related pathways are Mesodermal Commitment Pathway and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and cytoskeletal protein binding. An important paralog of this gene is EPB41L4B.

UniProtKB/Swiss-Prot Summary for EPB41L5 Gene

  • May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells.

Additional gene information for EPB41L5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPB41L5 Gene

Genomics for EPB41L5 Gene

GeneHancer (GH) Regulatory Elements for EPB41L5 Gene

Promoters and enhancers for EPB41L5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J120011 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 511.6 +0.2 217 3.2 ZBTB40 EP300 POLR2G SP1 NCOR1 PHF8 JUND ZFX REST POLR2A EPB41L5 TMEM185B C2orf76 piR-33432-295
GH02J120012 Enhancer 0.5 Ensembl 500.7 -1.5 -1527 0.2 CTCF TGIF2 RAD21 MYC SCRT1 TFAP4 AFF1 HNRNPL SCRT2 EPB41L5 piR-35564-071
GH02J119820 Enhancer 1 FANTOM5 Ensembl 20.1 -189.4 -189409 10 CTCF JUND ZIC2 REST ZNF423 TRIM28 RAD21 TRIM22 SMC3 OSR2 EPB41L5 PTPN4 TMEM177 SCTR piR-38344-074 piR-46256-016
GH02J119758 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 8.9 -251.8 -251824 5.2 FOXK2 ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 POLR2G SP1 NCOR1 LOC101927764 PTPN4 lnc-SCTR-2 EPB41L5 piR-45035-113
GH02J119541 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 -466.2 -466238 10.8 FOXK2 ZNF217 BCLAF1 JUND SIX5 PHB2 ZBTB26 TARDBP REST RFX1 CFAP221 SCTR TMEM185B TMEM177 EPB41L5 piR-32325-075
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPB41L5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPB41L5

Top Transcription factor binding sites by QIAGEN in the EPB41L5 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • C/EBPalpha
  • E47
  • Hand1
  • MyoD
  • POU2F1
  • POU2F1a

Genomic Locations for EPB41L5 Gene

Genomic Locations for EPB41L5 Gene
chr2:120,013,028-120,179,121
(GRCh38/hg38)
Size:
166,094 bases
Orientation:
Plus strand
chr2:120,770,581-120,936,697
(GRCh37/hg19)
Size:
166,117 bases
Orientation:
Plus strand

Genomic View for EPB41L5 Gene

Genes around EPB41L5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L5 Gene

Proteins for EPB41L5 Gene

  • Protein details for EPB41L5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCM4-E41L5_HUMAN
    Recommended name:
    Band 4.1-like protein 5
    Protein Accession:
    Q9HCM4
    Secondary Accessions:
    • Q7Z5S1
    • Q8IZ12
    • Q9H975

    Protein attributes for EPB41L5 Gene

    Size:
    733 amino acids
    Molecular mass:
    81856 Da
    Quaternary structure:
    • Interacts with MPP5, CRB2 and CRB3.

    Alternative splice isoforms for EPB41L5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPB41L5 Gene

Post-translational modifications for EPB41L5 Gene

  • Ubiquitination at Lys40, Lys350, Lys508, and Lys510
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EPB41L5 Gene

Domains & Families for EPB41L5 Gene

Gene Families for EPB41L5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EPB41L5 Gene

GenScript: Design optimal peptide antigens:
  • Band 4.1-like protein 5 (E41L5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCM4

UniProtKB/Swiss-Prot:

E41L5_HUMAN :
  • The FERM domain binds to CRB1.
Domain:
  • The FERM domain binds to CRB1.
genes like me logo Genes that share domains with EPB41L5: view

Function for EPB41L5 Gene

Molecular function for EPB41L5 Gene

UniProtKB/Swiss-Prot Function:
May contribute to the correct positioning of tight junctions during the establishment of polarity in epithelial cells.

Phenotypes From GWAS Catalog for EPB41L5 Gene

Gene Ontology (GO) - Molecular Function for EPB41L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008092 cytoskeletal protein binding IEA --
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with EPB41L5: view
genes like me logo Genes that share phenotypes with EPB41L5: view

Animal Models for EPB41L5 Gene

MGI Knock Outs for EPB41L5:

Animal Model Products

CRISPR Products

miRNA for EPB41L5 Gene

miRTarBase miRNAs that target EPB41L5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB41L5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L5 Gene

Localization for EPB41L5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L5 Gene

Cytoplasm. Cell junction, adherens junction. Note=Associated with the plasma membrane. Colocalizes with CTNNB1, an adherens junction marker (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPB41L5 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 3
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPB41L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with EPB41L5: view

Pathways & Interactions for EPB41L5 Gene

genes like me logo Genes that share pathways with EPB41L5: view

Pathways by source for EPB41L5 Gene

Gene Ontology (GO) - Biological Process for EPB41L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001756 somitogenesis IEA --
GO:0001837 epithelial to mesenchymal transition IEA --
GO:0001839 neural plate morphogenesis IEA --
GO:0001954 positive regulation of cell-matrix adhesion IEA --
genes like me logo Genes that share ontologies with EPB41L5: view

No data available for SIGNOR curated interactions for EPB41L5 Gene

Drugs & Compounds for EPB41L5 Gene

No Compound Related Data Available

Transcripts for EPB41L5 Gene

mRNA/cDNA for EPB41L5 Gene

6 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB41L5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
SP1: - - -
SP2: - - -
SP3: - -
SP4:
SP5: -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26
SP1:
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for EPB41L5 Gene

GeneLoc Exon Structure for
EPB41L5

Expression for EPB41L5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPB41L5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPB41L5 Gene

This gene is overexpressed in Lung (19.0), Testis (18.0), and Retina (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPB41L5 Gene



Protein tissue co-expression partners for EPB41L5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPB41L5

SOURCE GeneReport for Unigene cluster for EPB41L5 Gene:

Hs.369232

Evidence on tissue expression from TISSUES for EPB41L5 Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with EPB41L5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB41L5 Gene

Orthologs for EPB41L5 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPB41L5 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L5 31
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41L5 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l5 31 30
  • 84.72 (n)
OneToOne
Epb41l5 17
oppossum
(Monodelphis domestica)
Mammalia EPB41L5 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L5 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L5 31 30
  • 69.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L5 31
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia epb4.1l5-prov 30
zebrafish
(Danio rerio)
Actinopterygii epb41l5 31 30 30
  • 63.95 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta yrt 31
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-2 31
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
OneToMany
Cin.1768 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1768 30
Species where no ortholog for EPB41L5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for EPB41L5 Gene

ENSEMBL:
Gene Tree for EPB41L5 (if available)
TreeFam:
Gene Tree for EPB41L5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPB41L5: view image

Paralogs for EPB41L5 Gene

(13) SIMAP similar genes for EPB41L5 Gene using alignment to 4 proteins:

  • E41L5_HUMAN
  • Q4ZG32_HUMAN
  • Q53RT1_HUMAN
  • Q53T34_HUMAN

Pseudogenes.org Pseudogenes for EPB41L5 Gene

genes like me logo Genes that share paralogs with EPB41L5: view

Variants for EPB41L5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPB41L5 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
711263 Likely Benign: not provided 120,100,775(+) T/TTCCACAGAGTCC NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION
773428 Benign: not provided 120,164,909(+) A/T MISSENSE_VARIANT
rs1034489 - p.Ala462Thr
rs28930677 - p.His334Tyr

Additional dbSNP identifiers (rs#s) for EPB41L5 Gene

Structural Variations from Database of Genomic Variants (DGV) for EPB41L5 Gene

Variant ID Type Subtype PubMed ID
nsv1000477 CNV gain 25217958
nsv1007653 CNV loss 25217958
nsv524770 CNV loss 19592680
nsv834345 CNV gain 17160897
nsv834346 CNV gain 17160897

Variation tolerance for EPB41L5 Gene

Residual Variation Intolerance Score: 46.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.42; 54.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPB41L5 Gene

Human Gene Mutation Database (HGMD)
EPB41L5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPB41L5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L5 Gene

Disorders for EPB41L5 Gene

Additional Disease Information for EPB41L5

No disorders were found for EPB41L5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPB41L5 Gene

Publications for EPB41L5 Gene

  1. FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex. (PMID: 17920587) Gosens I … Roepman R (Experimental cell research 2007) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54
  4. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54
  5. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. (PMID: 31240132) Hu WF … Woods NT (Cell death discovery 2019) 3 54

Products for EPB41L5 Gene

Sources for EPB41L5 Gene