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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
  • Band 4.1-Like Protein 5 3
  • 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. Diseases associated with EPB41L5 include Transverse Colon Cancer. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. 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 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F119888 0.5 ENCODE 16.5 -124.2 -124234 0.9 ZNF316 FOS MAFK NFE2L2 EPB41L5 GC02P119982 LOC101927764
GH02F119933 0.2 Ensembl 15.7 -79.4 -79405 0.4 EPB41L5 GC02P119982 LOC101927764
GH02F120011 0.5 ENCODE 11.6 +0.2 240 3.2 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS SP3 EPB41L5 TMEM185B C2orf76 LOC105373582
GH02F119828 0.7 FANTOM5 11.3 -184.7 -184663 0.2 POLR2A PTPN4 EPB41L5 LOC101927764 GC02P119982
GH02F119829 0.4 Ensembl 11.3 -184.9 -184905 0.2 ZNF274 SMARCA4 POLR2A PTPN4 EPB41L5 LOC101927764 GC02P119982
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000597400 495 2601 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS SP3

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

Post-translational modifications for EPB41L5 Gene

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

No data available for DME Specific Peptides for EPB41L5 Gene

Domains & Families for EPB41L5 Gene

Gene 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

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.

Gene Ontology (GO) - Molecular Function for EPB41L5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IBA --
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

miRNA for EPB41L5 Gene

miRTarBase miRNAs that target EPB41L5

Inhibitory RNA Products

Flow Cytometry 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
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:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton IBA --
GO:0005886 plasma membrane IDA --
GO:0005912 adherens junction 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

Transcripts for EPB41L5 Gene

Unigene Clusters for EPB41L5 Gene

Erythrocyte membrane protein band 4.1 like 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
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, MaxQB, and MOPED for EPB41L5 Gene



Protein tissue co-expression partners for EPB41L5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPB41L5 Gene:

EPB41L5

SOURCE GeneReport for Unigene cluster for EPB41L5 Gene:

Hs.369232
genes like me logo Genes that share expression patterns with EPB41L5: view

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
chimpanzee
(Pan troglodytes)
Mammalia EPB41L5 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPB41L5 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41L5 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l5 34 35
  • 84.72 (n)
Epb41l5 16
oppossum
(Monodelphis domestica)
Mammalia EPB41L5 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L5 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPB41L5 34 35
  • 69.95 (n)
lizard
(Anolis carolinensis)
Reptilia EPB41L5 35
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia epb4.1l5-prov 34
zebrafish
(Danio rerio)
Actinopterygii epb41l5 34 35
  • 63.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta yrt 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-2 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1768 34
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)

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
rs10048723 -- 120,125,021(+) ctctg(C/T)agttt intron-variant
rs1014327 -- 120,127,762(+) GGCAT(C/T)TGACA reference, missense
rs10167023 -- 120,053,252(+) GGAAG(C/T)TTAAA intron-variant
rs10174327 -- 120,103,463(+) ACTTT(A/G)ATTAT intron-variant
rs10175817 -- 120,112,256(+) TTACG(A/G)TGGGT intron-variant

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)

Relevant External Links for EPB41L5 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for EPB41L5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
transverse colon cancer
  • ca transverse colon
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EPB41L5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPB41L5
genes like me logo Genes that share disorders with EPB41L5: view

No data available for 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 Res. 2000) 3 4 64
  4. 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 64
  5. 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 64

Products for EPB41L5 Gene

Sources for EPB41L5 Gene

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