Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EPB41L3 Gene

Aliases for EPB41L3 Gene

  • Erythrocyte Membrane Protein Band 4.1 Like 3 2 3
  • Differentially Expressed In Adenocarcinoma Of The Lung Protein 1 3 4
  • Erythrocyte Membrane Protein Band 4.1-Like 3 3 5
  • DAL-1 3 4
  • 4.1B 3 4
  • DAL1 3 4
  • 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 meningioma, familial and bejel. Among its related pathways are Tight junction. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is FRMD3.

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

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

Genomics for EPB41L3 Gene

Regulatory Elements for EPB41L3 Gene

Promoters for EPB41L3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPB41L3 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPB41L3 Gene

Chromosome:
18
Start:
5,392,381 bp from pter
End:
5,630,700 bp from pter
Size:
238,320 bases
Orientation:
Minus strand

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

Proteomics data for EPB41L3 Gene at MOPED

Post-translational modifications for EPB41L3 Gene

  • Ubiquitination at Lys 75, Lys 162, Lys 336, and Lys 397
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for EPB41L3 Gene

Domains & Families for EPB41L3 Gene

Gene Families for EPB41L3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2J2

UniProtKB/Swiss-Prot:

E41L3_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • Contains 1 FERM domain.
genes like me logo Genes that share domains with EPB41L3: view

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.

Gene Ontology (GO) - Molecular Function for EPB41L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin 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

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for EPB41L3 Gene COMPARTMENTS Subcellular localization image for EPB41L3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 3
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for EPB41L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005911 cell-cell junction IEA,IDA 12234973
GO:0019898 extrinsic component of membrane IEA --
GO:0033270 paranode region of axon ISS --
genes like me logo Genes that share ontologies with EPB41L3: view

Pathways & Interactions for EPB41L3 Gene

SuperPathways for EPB41L3 Gene

Superpath Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with EPB41L3: view

Pathways by source for EPB41L3 Gene

1 KEGG pathway for EPB41L3 Gene

Gene Ontology (GO) - Biological Process for EPB41L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0008150 biological_process ND --
GO:0008360 regulation of cell shape ISS --
GO:0030865 cortical cytoskeleton organization TAS 21966409
GO:0043217 myelin maintenance ISS --
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

Flow Cytometry 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 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, MOPED, and MaxQB for EPB41L3 Gene



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.
genes like me logo Genes that share expression patterns with EPB41L3: view

Protein tissue co-expression partners for EPB41L3 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 35
  • 99.23 (n)
  • 98.9 (a)
EPB41L3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPB41L3 36
  • 88 (a)
OneToOne
EPB41L3 35
  • 86.67 (n)
  • 90.05 (a)
dog
(Canis familiaris)
Mammalia EPB41L3 36
  • 89 (a)
OneToOne
EPB41L3 35
  • 89.11 (n)
  • 91.79 (a)
mouse
(Mus musculus)
Mammalia Epb41l3 16
Epb4.1l3 36
  • 86 (a)
OneToOne
Epb4.1l3 35
  • 83.35 (n)
  • 88.12 (a)
oppossum
(Monodelphis domestica)
Mammalia EPB41L3 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPB41L3 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epb41l3 35
  • 84.58 (n)
  • 88.23 (a)
chicken
(Gallus gallus)
Aves EPB41L3 36
  • 84 (a)
OneToOne
EPB41L3 35
  • 78.95 (n)
  • 83 (a)
lizard
(Anolis carolinensis)
Reptilia EPB41L3 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17099 35
epb41l3 35
  • 73.88 (n)
  • 76.64 (a)
zebrafish
(Danio rerio)
Actinopterygii epb41l3b 36
  • 57 (a)
OneToMany
CABZ01090303.1 36
  • 45 (a)
OneToMany
epb41l3b 35
  • 63.38 (n)
  • 66.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta cora 37
  • 60 (a)
CG5022 37
  • 36 (a)
cora 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-3 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToMany
Species with no ortholog for EPB41L3:
  • 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

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

Variants for EPB41L3 Gene

Sequence variations from dbSNP and Humsavar for EPB41L3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs9966357 - 5,416,222(+) CAAGG(C/T)GGGCT intron-variant, reference, missense
rs8082898 - 5,416,161(+) GTCTG(C/T)AGCTA intron-variant, reference, missense
rs8096452 - 5,397,324(+) CTCCT(C/G)CACCA reference, missense
rs879315 -- 5,446,890(+) CATTT(A/G)TTTAT intron-variant
rs1140830 -- 5,393,191(-) CCTGC(A/T)CGTTC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv184n21 CNV Gain 19592680
esv273358 CNV Insertion 20981092
esv2716715 CNV Deletion 23290073
esv3439 CNV Deletion 18987735
esv2671954 CNV Deletion 23128226
dgv53n6 CNV Loss 16902084
esv989108 CNV Deletion 20482838
esv2716716 CNV Deletion 23290073
esv2716717 CNV Deletion 23290073
esv2716719 CNV Deletion 23290073
esv2666529 CNV Deletion 23128226
nsv521827 CNV Loss 19592680

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)

Relevant External Links for EPB41L3 Gene

HapMap Linkage Disequilibrium report
EPB41L3

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

Disorders for EPB41L3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
meningioma, familial
  • meningioma
bejel
  • njovera
renal clear cell carcinoma
  • clear cell carcinoma of kidney
lung cancer
  • lung cancer, protection against
clear cell ependymoma
  • cellular ependymoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for EPB41L3

Genetic Association Database (GAD)
EPB41L3
Human Genome Epidemiology (HuGE) Navigator
EPB41L3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPB41L3
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 Y.K. … Newsham I.F. (Cancer Res. 1999) 2 3 4 23 67
  2. Frequent concomitant epigenetic silencing of the stress-responsive tumor suppressor gene CADM1, and its interacting partner DAL-1 in nasal NK/T-cell lymphoma. (PMID: 19115211) Fu L. … Tao Q. (Int. J. Cancer 2009) 3 23
  3. SynCAM1 recruits NMDA receptors via protein 4.1B. (PMID: 19796685) Hoy J.L. … Washbourne P. (Mol. Cell. Neurosci. 2009) 3 23
  4. A Golgi-associated protein 4.1B variant is required for assimilation of proteins in the membrane. (PMID: 19299464) Kang Q. … An X. (J. Cell. Sci. 2009) 3 23
  5. Potential role of EPB41L3 (protein 4.1B/Dal-1) as a target for treatment of advanced prostate cancer. (PMID: 18554153) Bernkopf D.B. … Williams E.D. (Expert Opin. Ther. Targets 2008) 3 23

Products for EPB41L3 Gene

Sources for EPB41L3 Gene

Back to Top

Content