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Aliases for EPB41L3 Gene

Aliases for EPB41L3 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 3 2 3 5
  • Differentially Expressed In Adenocarcinoma Of The Lung Protein 1 3 4
  • DAL-1 3 4
  • 4.1B 3 4
  • DAL1 3 4
  • Band 4.1-Like Protein 3 3
  • KIAA0987 4

External Ids for EPB41L3 Gene

Previous GeneCards Identifiers for EPB41L3 Gene

  • GC18P005437
  • GC18M005456

Summaries for EPB41L3 Gene

GeneCards Summary for EPB41L3 Gene

EPB41L3 (Erythrocyte Membrane Protein Band 4.1 Like 3) is a Protein Coding gene. Diseases associated with EPB41L3 include Benign Meningioma and Bejel. Among its related pathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is EPB41L2.

UniProtKB/Swiss-Prot for EPB41L3 Gene

  • Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.

Gene Wiki entry for EPB41L3 Gene

Additional gene information for EPB41L3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB41L3 Gene

Genomics for EPB41L3 Gene

GeneHancer (GH) Regulatory Elements for EPB41L3 Gene

Promoters and enhancers for EPB41L3 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
GH18I005626 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +2.2 2229 4.8 PKNOX1 SIN3A GLI4 ZNF2 ZNF121 GLIS2 KLF7 SP3 REST ZSCAN16 EPB41L3 LINC00667 LINC00526 ENSG00000264000
GH18I005542 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 567 +87.3 87300 2.5 ZNF76 ZNF335 GLIS2 EGR2 SP3 ZNF398 REST PRDM6 GLIS1 ZNF341 EPB41L3 GC18P005557 GC18M005377
GH18I005540 Promoter 0.9 EPDnew 550.2 +90.1 90054 0.1 KLF1 ZFP37 ZNF501 ATF2 ZNF335 ZNF366 ZNF629 ZNF600 ZBTB12 ZXDB EPB41L3 GC18M005377 GC18P005557
GH18I005463 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 34.9 +166.7 166729 1.9 ZNF398 HIC1 PRDM6 ZNF366 POLR2A ZSCAN5C ZNF629 PRDM10 ZBTB12 ENSG00000265316 EPB41L3 GC18P005456 GC18P005502 GC18M005377
GH18I005460 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 30.7 +168.9 168922 2.2 PRDM6 POLR2A HLF FEZF1 PRDM4 ZNF843 SPI1 ENSG00000265316 EPB41L3 GC18P005456 GC18M005377
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPB41L3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPB41L3 gene promoter:

Genomic Locations for EPB41L3 Gene

Genomic Locations for EPB41L3 Gene
chr18:5,392,381-5,630,700
(GRCh38/hg38)
Size:
238,320 bases
Orientation:
Minus strand
chr18:5,392,383-5,630,699
(GRCh37/hg19)

Genomic View for EPB41L3 Gene

Genes around EPB41L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPB41L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPB41L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPB41L3 Gene

Proteins for EPB41L3 Gene

  • Protein details for EPB41L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2J2-E41L3_HUMAN
    Recommended name:
    Band 4.1-like protein 3
    Protein Accession:
    Q9Y2J2
    Secondary Accessions:
    • B7Z4I5
    • F5GX05
    • O95713
    • Q9BRP5

    Protein attributes for EPB41L3 Gene

    Size:
    1087 amino acids
    Molecular mass:
    120678 Da
    Quaternary structure:
    • Interacts (via FERM domain) with CADM1. Interacts with PRMT3, PRMT5 and PRMT6.
    SequenceCaution:
    • Sequence=AAC79806.1; Type=Frameshift; Positions=29, 59; Evidence={ECO:0000305}; Sequence=BAA76831.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPB41L3 Gene

    Alternative splice isoforms for EPB41L3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPB41L3 Gene

Post-translational modifications for EPB41L3 Gene

  • Ubiquitination at posLast=7575, posLast=162162, Lys336, and posLast=397397

No data available for DME Specific Peptides for EPB41L3 Gene

Domains & Families for EPB41L3 Gene

Gene Families for EPB41L3 Gene

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EPB41L3: view

No data available for UniProtKB/Swiss-Prot for EPB41L3 Gene

Function for EPB41L3 Gene

Molecular function for EPB41L3 Gene

GENATLAS Biochemistry:
erythrocyte surface protein 4.1-like 3,expressed in the brain
UniProtKB/Swiss-Prot Function:
Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5.

Phenotypes From GWAS Catalog for EPB41L3 Gene

Gene Ontology (GO) - Molecular Function for EPB41L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton TAS 21966409
GO:0005515 protein binding IPI 12234973
GO:0008092 cytoskeletal protein binding IEA --
genes like me logo Genes that share ontologies with EPB41L3: view
genes like me logo Genes that share phenotypes with EPB41L3: view

Animal Models for EPB41L3 Gene

MGI Knock Outs for EPB41L3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPB41L3 Gene

Localization for EPB41L3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPB41L3 Gene

Cytoplasm, cytoskeleton. Cell junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Note=Detected in the cytoplasm of actively dividing cells.

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 EPB41L3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
extracellular 1
mitochondrion 1
nucleus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for EPB41L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA,IEA --
GO:0005886 plasma membrane IDA,NAS 9892180
GO:0005911 cell-cell junction IEA,IDA 12234973
genes like me logo Genes that share ontologies with EPB41L3: view

Pathways & Interactions for EPB41L3 Gene

genes like me logo Genes that share pathways with EPB41L3: view

Pathways by source for EPB41L3 Gene

Gene Ontology (GO) - Biological Process for EPB41L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IEA --
GO:0002175 protein localization to paranode region of axon ISS --
GO:0006915 apoptotic process IEA --
GO:0007010 cytoskeleton organization IEA --
GO:0007016 cytoskeletal anchoring at plasma membrane TAS,IEA 21966409
genes like me logo Genes that share ontologies with EPB41L3: view

No data available for SIGNOR curated interactions for EPB41L3 Gene

Drugs & Compounds for EPB41L3 Gene

(2) Drugs for EPB41L3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for EPB41L3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EPB41L3: view

Transcripts for EPB41L3 Gene

Unigene Clusters for EPB41L3 Gene

Erythrocyte membrane protein band 4.1-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - - - -
SP2: - - -
SP3: - - - - - - - - - - - - - - - - -
SP4: - - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: -
SP10:
SP11:
SP12:
SP13: - - -
SP14: -
SP15:
SP16: - -
SP17: - - - -
SP18: -

ExUns: 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b · 29c · 29d · 29e
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - - - - - - - - - - -
SP4: - - - - -
SP5:
SP6: - - - - -
SP7: - - - - - -
SP8: - - -
SP9: -
SP10:
SP11: - -
SP12:
SP13: - - - - - - - - - - -
SP14: - - - - - - -
SP15: -
SP16:
SP17: - - - - - - -
SP18: -

Relevant External Links for EPB41L3 Gene

GeneLoc Exon Structure for
EPB41L3
ECgene alternative splicing isoforms for
EPB41L3

Expression for EPB41L3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPB41L3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPB41L3 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for EPB41L3 Gene

This gene is overexpressed in Frontal cortex (30.3), Brain (14.6), and Spinal cord (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPB41L3 Gene



Protein tissue co-expression partners for EPB41L3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EPB41L3 Gene:

EPB41L3

SOURCE GeneReport for Unigene cluster for EPB41L3 Gene:

Hs.213394

mRNA Expression by UniProt/SwissProt for EPB41L3 Gene:

Q9Y2J2-E41L3_HUMAN
Tissue specificity: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis. Detected in lung.

Evidence on tissue expression from TISSUES for EPB41L3 Gene

  • Nervous system(5)
  • Lung(4.5)
  • Liver(4.3)
  • Kidney(2.5)
  • Heart(2.3)
  • Adrenal gland(2.2)
  • Blood(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with EPB41L3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB41L3 Gene

Orthologs for EPB41L3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPB41L3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPB41L3 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia EPB41L3 33 34
  • 89.11 (n)
cow
(Bos Taurus)
Mammalia EPB41L3 33 34
  • 86.67 (n)
oppossum
(Monodelphis domestica)
Mammalia EPB41L3 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epb41l3 33
  • 84.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L3 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epb4.1l3 33 34
  • 83.35 (n)
Epb41l3 16
chicken
(Gallus gallus)
Aves EPB41L3 33 34
  • 78.95 (n)
lizard
(Anolis carolinensis)
Reptilia EPB41L3 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epb41l3 33
  • 73.88 (n)
Str.17099 33
zebrafish
(Danio rerio)
Actinopterygii epb41l3b 33 34
  • 63.38 (n)
CABZ01090303.1 34
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta cora 35 34
  • 60 (a)
CG5022 35
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea frm-3 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 60 (a)
OneToMany
Species where no ortholog for EPB41L3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for EPB41L3 Gene

ENSEMBL:
Gene Tree for EPB41L3 (if available)
TreeFam:
Gene Tree for EPB41L3 (if available)

Paralogs for EPB41L3 Gene

Variants for EPB41L3 Gene

Sequence variations from dbSNP and Humsavar for EPB41L3 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000005067 -- 5,458,837(-) G/A intron_variant
rs1000011232 -- 5,506,630(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000015743 -- 5,498,567(-) C/A/T genic_upstream_transcript_variant, intron_variant
rs1000033492 -- 5,534,545(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000040442 -- 5,529,002(-) G/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPB41L3 Gene

Variant ID Type Subtype PubMed ID
nsv952407 CNV deletion 24416366
nsv576393 CNV gain 21841781
nsv521827 CNV loss 19592680
nsv472411 CNV novel sequence insertion 20440878
esv998712 CNV deletion 20482838
esv989108 CNV deletion 20482838
esv3554993 CNV deletion 23714750
esv3439162 CNV insertion 20981092
esv3439 CNV loss 18987735
esv3363246 CNV insertion 20981092
esv3353097 CNV insertion 20981092
esv3309085 CNV mobile element insertion 20981092
esv3211634 CNV deletion 24192839
esv3140456 CNV deletion 24192839
esv2716719 CNV deletion 23290073
esv2716717 CNV deletion 23290073
esv2716716 CNV deletion 23290073
esv2716715 CNV deletion 23290073
esv2671954 CNV deletion 23128226
esv2666529 CNV deletion 23128226
dgv970e212 CNV loss 25503493
dgv969e212 CNV loss 25503493
dgv53n6 CNV deletion 16902084
dgv184n21 CNV gain 19592680
dgv1543n106 CNV deletion 24896259

Variation tolerance for EPB41L3 Gene

Residual Variation Intolerance Score: 40.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.49; 71.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPB41L3 Gene

Human Gene Mutation Database (HGMD)
EPB41L3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPB41L3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB41L3 Gene

Disorders for EPB41L3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for EPB41L3 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
benign meningioma
  • meningioma, benign
bejel
  • njovera
yaws
  • bouba
meningioma, familial
  • meningioma, familial, susceptibility to
spinal cord ependymoma
  • ependymal neoplasm of the spinal cord
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EPB41L3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPB41L3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPB41L3 Gene

Publications for EPB41L3 Gene

  1. A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer. (PMID: 9892180) Tran YK … Newsham IF (Cancer research 1999) 2 3 4 22 58
  2. The tumor suppressor DAL-1/4.1B and protein methylation cooperate in inducing apoptosis in MCF-7 breast cancer cells. (PMID: 16420693) Jiang W … Newsham IF (Molecular cancer 2006) 3 4 22 58
  3. DAL-1/4.1B tumor suppressor interacts with protein arginine N-methyltransferase 3 (PRMT3) and inhibits its ability to methylate substrates in vitro and in vivo. (PMID: 15334060) Singh V … Newsham IF (Oncogene 2004) 3 4 22 58
  4. Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer. (PMID: 12234973) Yageta M … Murakami Y (Cancer research 2002) 3 4 22 58
  5. Structural basis of tumor suppressor in lung cancer 1 (TSLC1) binding to differentially expressed in adenocarcinoma of the lung (DAL-1/4.1B). (PMID: 21131357) Busam RD … Hallberg BM (The Journal of biological chemistry 2011) 3 4 58

Products for EPB41L3 Gene

Sources for EPB41L3 Gene

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