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Aliases for EPB41L5 Gene

Aliases for EPB41L5 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 5 2 3 5
  • Yurt Homolog (Drosophila) 2
  • Yurt Homolog 3
  • KIAA1548 4
  • BE37 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. GO annotations related to this gene include protein domain specific binding and cytoskeletal protein binding. An important paralog of this gene is FRMD3.

UniProtKB/Swiss-Prot for EPB41L5 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L5 Gene

Genomics for EPB41L5 Gene

Regulatory Elements for EPB41L5 Gene

Enhancers for EPB41L5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPB41L5 on UCSC Golden Path with GeneCards custom track

Promoters for EPB41L5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPB41L5 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPB41L5 Gene

Chromosome:
2
Start:
120,013,005 bp from pter
End:
120,179,121 bp from pter
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

Proteomics data for EPB41L5 Gene at MOPED

Post-translational modifications for EPB41L5 Gene

  • Ubiquitination at Lys 40, Lys 350, Lys 508, and Lys 510
  • Modification sites at PhosphoSitePlus

Other Protein References for EPB41L5 Gene

No data available for DME Specific Peptides for EPB41L5 Gene

Domains & Families for EPB41L5 Gene

Suggested Antigen Peptide Sequences for EPB41L5 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with EPB41L5: view

No data available for Gene Families for EPB41L5 Gene

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for EPB41L5 Gene COMPARTMENTS Subcellular localization image for EPB41L5 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 4
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EPB41L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019898 extrinsic component of membrane IEA --
genes like me logo Genes that share ontologies with EPB41L5: view

Pathways & Interactions for EPB41L5 Gene

SuperPathways for EPB41L5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPB41L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001839 neural plate morphogenesis IEA --
GO:0003382 epithelial cell morphogenesis IEA --
GO:0006931 substrate-dependent cell migration, cell attachment to substrate IEA --
GO:0007398 ectoderm development IEA --
genes like me logo Genes that share ontologies with EPB41L5: view

No data available for Pathways by source and SIGNOR curated interactions for EPB41L5 Gene

Drugs & Compounds for EPB41L5 Gene

No Compound Related Data Available

Transcripts for EPB41L5 Gene

Unigene Clusters for EPB41L5 Gene

Erythrocyte membrane protein band 4.1 like 5:
Representative Sequences:

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
ECgene alternative splicing isoforms for
EPB41L5

Expression for EPB41L5 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for EPB41L5 Gene



SOURCE GeneReport for Unigene cluster for EPB41L5 Gene Hs.369232

genes like me logo Genes that share expression patterns with EPB41L5: view

Protein tissue co-expression partners for EPB41L5 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
mouse
(Mus musculus)
Mammalia Epb4.1l5 35
  • 84.72 (n)
  • 84.13 (a)
Epb41l5 16
Epb4.1l5 36
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41L5 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L5 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPB41L5 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L5 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EPB41L5 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L5 35
  • 69.95 (n)
  • 74.34 (a)
EPB41L5 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPB41L5 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia epb4.1l5-prov 35
zebrafish
(Danio rerio)
Actinopterygii epb41l5 35
  • 63.95 (n)
  • 65.54 (a)
epb41l5 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta yrt 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-2 36
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1768 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToMany
Species with no ortholog for EPB41L5:
  • 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)

Paralogs for EPB41L5 Gene

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

Pseudogenes.org Pseudogenes for EPB41L5 Gene

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

Variants for EPB41L5 Gene

Sequence variations from dbSNP and Humsavar for EPB41L5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1034489 - 120,127,734(-) CGTTG(C/T)TTCCA nc-transcript-variant, reference, missense
rs28930677 - 120,090,473(+) GTTCT(C/T)ATCGA nc-transcript-variant, reference, missense
rs1562287 -- 120,127,654(-) ACCAA(A/G)AAATT intron-variant
rs1596864 -- 120,026,941(-) GCTTG(C/T)TGGTC intron-variant
rs1596865 -- 120,137,116(+) ttcca(A/G)atgac intron-variant

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

Variant ID Type Subtype PubMed ID
nsv874963 CNV Gain 21882294
nsv834345 CNV Gain 17160897
nsv834346 CNV Gain 17160897
nsv524770 CNV Loss 19592680

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for EPB41L5 Gene

Disorders for EPB41L5 Gene

Relevant External Links for EPB41L5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Exp. Cell Res. 2007) 3 4 67
  2. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for EPB41L5 Gene

Sources for EPB41L5 Gene

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