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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EPB41L3 Gene

protein-coding   GIFtS: 63
GCID: GC18M005382

Erythrocyte Membrane Protein Band 4.1-Like 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Erythrocyte Membrane Protein Band 4.1-Like 31 2     DAL-12 3
DAL12 3 5     Band 4.1-Like Protein 32
Differentially Expressed In Adenocarcinoma Of The Lung Protein 12 3     KIAA09873
4.1B2 3     

External Ids:    HGNC: 33801   Entrez Gene: 231362   Ensembl: ENSG000000823977   OMIM: 6053315   UniProtKB: Q9Y2J23   

Export aliases for EPB41L3 gene to outside databases

Previous GC identifers: GC18P005437 GC18M005456


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for EPB41L3 Gene: 
EPB41L3 (erythrocyte membrane protein band 4.1-like 3) is a protein-coding gene. Diseases associated with EPB41L3 include prostate cancer, progression and metastasis of, and prostate cancer, progression of. GO annotations related to this gene include actin binding and structural constituent of cytoskeleton. An important paralog of this gene is EPB41L5.

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010859.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB41L3 gene promoter:
         Max1   p53   IRF-1   NF-AT   S8   NF-AT4   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB41L3 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB41L3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.32

EPB41L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L3 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M005382:  view genomic region     (about GC identifiers)

Start:
5,392,383 bp from pter      End:
5,630,699 bp from pter
Size:
238,317 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2 (See protein sequence)
Recommended Name: Band 4.1-like protein 3  
Size: 1087 amino acids; 120678 Da
Subunit: Interacts (via FERM domain) with CADM1. Interacts with PRMT3, PRMT5 and PRMT6
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cell junction. Cell membrane; Peripheral membrane
protein; Cytoplasmic side. Cytoplasm. Note=Detected in the cytoplasm of actively dividing cells
Sequence caution: Sequence=AAC79806.1; Type=Frameshift; Positions=29, 59; Sequence=BAA76831.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for EPB41L3:
2HE7 (3D)        3BIN (3D)    
Secondary accessions: O95713 Q9BRP5
Alternative splicing: 3 isoforms:  Q9Y2J2-1   Q9Y2J2-2   Q9Y2J2-3   

Explore the universe of human proteins at neXtProt for EPB41L3: NX_Q9Y2J2

Explore proteomics data for EPB41L3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2J2

  • EPB41L3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPB41L3 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001268462.1  NP_001268463.1  NP_001268464.1  NP_036439.2  

    ENSEMBL proteins: 
     ENSP00000343158   ENSP00000442091   ENSP00000464570   ENSP00000462783   ENSP00000464533  
     ENSP00000462692   ENSP00000464020   ENSP00000464148   ENSP00000463122   ENSP00000461937  
     ENSP00000463289   ENSP00000462338   ENSP00000464336   ENSP00000463707   ENSP00000441174  
     ENSP00000341138   ENSP00000382981   ENSP00000392195   ENSP00000442233  

    Human Recombinant Protein Products for EPB41L3: 
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    Cloud-Clone Corp. Proteins for EPB41L3 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane NAS9892180
    GO:0005911cell-cell junction IDA12234973
    GO:0019898extrinsic to membrane IEA--

    EPB41L3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/14 InterPro protein domains (see all 14):
     IPR019748 FERM_central
     IPR018980 FERM_PH-like_C
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin_like
     IPR019749 Band_41_domain

    Graphical View of Domain Structure for InterPro Entry Q9Y2J2

    ProtoNet protein and cluster: Q9Y2J2

    2 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB007477 SAB


    UniProtKB/Swiss-Prot: E41L3_HUMAN, Q9Y2J2
    Similarity: Contains 1 FERM domain


    EPB41L3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: E41L3_HUMAN, Q9Y2J2
    Function: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of
    protein arginine N-methyltransferases, including PRMT3 and PRMT5

         Genatlas biochemistry entry for EPB41L3:
    erythrocyte surface protein 4.1-like 3,expressed in the brain

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS--
    GO:0005515protein binding IPI12234973
    GO:0008092cytoskeletal protein binding ----
         
    EPB41L3 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Epb4.1l3):
     behavior/neurological  cellular  endocrine/exocrine gland  mortality/aging  nervous system 
     normal  reproductive system  tumorigenesis 

    EPB41L3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EPB41L3: Epb4.1l3Epb4.tm1Sohn Epb4.1l3Epb4.tm1.1Jglt Epb4.1l3Epb4.tm1Jkis Epb4.1l3Epb4.tm1.1Bhat

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB41L3 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPB41L3 
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    SwitchGear 3'UTR luciferase reporter plasmidEPB41L3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EPB41L3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Tight junction
    Tight junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for EPB41L3):
        Tight junction


    EPB41L3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPB41L3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/589 Interacting proteins for EPB41L3 (Q9Y2J22, 3 ENSP000003411384) via UniProtKB, MINT, STRING, and/or I2D (see all 589)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50963 I2D: score=5 STRING: ENSP00000300161
    YWHAGP619812, 3, ENSP000003063304MINT-50838 I2D: score=5 STRING: ENSP00000306330
    YWHAZP631042, 3, ENSP000003095034MINT-51018 I2D: score=5 STRING: ENSP00000309503
    SPTBN1Q010822, 3, ENSP000003492594MINT-7947479 I2D: score=2 STRING: ENSP00000349259
    CNTNAP2Q9UHC63, ENSP000003547784I2D: score=4 STRING: ENSP00000354778
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002175protein localization to paranode region of axon ISS--
    GO:0006915apoptotic process IEA--
    GO:0007016cytoskeletal anchoring at plasma membrane TAS--
    GO:0008150biological_process ND--
    GO:0008360regulation of cell shape ISS--

    EPB41L3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EPB41L3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPB41L3 (E41L3)

    3 Novoseek inferred chemical compound relationships for EPB41L3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 67.2 10 19115211 (1), 17260099 (1), 15837747 (1), 16205641 (1)
    progesterone 15.4 3 11589430 (1), 11079777 (1)
    thymidine 8.69 2 15116094 (1), 15688033 (1)

    Search CenterWatch for drugs/clinical trials and news about EPB41L3 / E41L3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EPB41L3 gene (4 alternative transcripts): 
    NM_001281533.1  NM_001281534.1  NM_001281535.1  NM_012307.3  

    Unigene Cluster for EPB41L3:

    Erythrocyte membrane protein band 4.1-like 3
    Hs.213394  [show with all ESTs]
    Unigene Representative Sequence: AL832598
    18/38 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 38):
    ENST00000341928(uc010wze.1 uc010wzf.1 uc010wzg.1 uc010dkr.2 uc010wzh.1 uc002kmt.1 uc002kmu.1 uc010dkq.1)
    ENST00000578618 ENST00000542652(uc002kms.1) ENST00000540638 ENST00000545076
    ENST00000579951 ENST00000578524 ENST00000581292 ENST00000584055 ENST00000581387
    ENST00000579271 ENST00000580647 ENST00000580316 ENST00000578196 ENST00000582729
    ENST00000578395 ENST00000581661 ENST00000584670
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    hsa-miR-3910 hsa-miR-181c hsa-miR-1271 hsa-let-7a-2* hsa-miR-488 hsa-miR-197 hsa-let-7g* hsa-miR-330-3p
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    Additional mRNA sequence: 

    AB023204.1 AF069072.1 AF515797.1 AK090875.1 AK094952.1 AK128531.1 AK292583.1 AK294610.1 
    AK294690.1 AK295453.1 AK297406.1 AK303679.1 AK307751.1 AK307904.1 AK314438.1 AL832598.2 
    BC006141.1 BC008377.1 BC144531.1 

    21 DOTS entries:

    DT.100811666  DT.100680879  DT.448097  DT.102839096  DT.91651680  DT.100811665  DT.100037099  DT.100760852 
    DT.121103773  DT.121103834  DT.95255086  DT.100746176  DT.91756598  DT.91756605  DT.97801097  DT.100675153 
    DT.102839110  DT.121103786  DT.121103787  DT.121103845  DT.86853288 

    24/188 AceView cDNA sequences (see all 188):

    AA757612 AA495835 AA946867 AA321945 BQ718050 AI004767 AB023204 Z39205 
    AI298100 AW949363 AA961368 AI300230 BC006141 AA135872 BU170106 CA406389 
    BQ100946 BQ723106 BE790193 AV708582 CK824976 Z43119 BG655507 AK090875 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L3 (see all 18)    About this scheme

    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:                          -     -     -                                                                                                                     

    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:                                                                                                                                                      


    ECgene alternative splicing isoforms for EPB41L3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EPB41L3 expression in normal human tissues (normalized intensities)      EPB41L3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAATGTAT
    EPB41L3 Expression
    About this image


    EPB41L3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/21 selected tissues (see all 21) fully expand
     
     Uncategorized (Uncategorized)    fully expand to see all 6 entries
             PureStem Progenitor W10
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             PureStem endothelial progenitor RP1-MV2-18
             colon ; endothelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; peripheral nerve/ganglion   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   

    See EPB41L3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB41L3

    SOURCE GeneReport for Unigene cluster: Hs.213394

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

        SABiosciences Custom PCR Arrays for EPB41L3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for EPB41L3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPB41L3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41L3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41L3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41L3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EPB41L3 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epb4.1l31 , 5 erythrocyte protein band 4.1-like 31, 5 83.7(n)1
    88.66(a)1
      17 (40.15 cM)5
    138231  NM_013813.11  NP_038841.11 
     691568105 
    chicken
    (Gallus gallus)
    Aves EPB41L31 erythrocyte membrane protein band 4.1-like 3 79.16(n)
    83.66(a)
      421055  XM_419142.3  XP_419142.3 
    lizard
    (Anolis carolinensis)
    Reptilia EPB41L36
    Uncharacterized protein
    77(a)
    1 ↔ 1
    4(41795834-41872508)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060449.12   -- 77.57(n)    BC060449.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epb41l3a1 erythrocyte membrane protein band 4.1-like 3a 63.37(n)
    64.97(a)
      445478  NM_001003987.1  NP_001003987.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cora3 cytoskeleton organization and
    biogenesis cytoskeletal more
    60(a)
    (best of 2)
      56C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea frm-33 Band 4.1 family 33(a)   X(11611482-11616063)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41L3 gene
    EPB41L52  EPB412  FRMD32  EPB41L12  PTPN32  EPB41L4B2  FARP12  PTPN42  
    FRMD52  FRMD72  EPB41L4A2  FARP22  EPB41L22  
    15 SIMAP similar genes for EPB41L3 using alignment to 16 protein entries:     E41L3_HUMAN (see all proteins):
    DKFZp564J1082    PTPN4    EPB41L2    EPB41L1    FARP1    FRMD5
    EPB41L5    FARP2    EPB41L4B    EPB41L4A    EPB41    PTPN21
    RDX    FRMD3    MSN

    EPB41L3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3226 SNPs in EPB41L3 are shown (see all 3226)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs788986581,2
    F--5381401(+) TGTAAG/ATTAGA 1 -- ds50011Minor allele frequency- A:0.07WA 118
    rs118730151,2
    C,F,H--5381418(+) TTCAAA/CTTCAC 1 -- ds50013Minor allele frequency- C:0.03NA WA 212
    rs1834602101,2
    --5381505(+) GAGATA/GGATAT 1 -- ds50010--------
    rs1500855001,2
    C--5381529(+) GATGAC/TGGGGA 1 -- ds50010--------
    rs118763591,2
    C,F,H--5381531(+) TGACGG/CGGACA 1 -- ds50015Minor allele frequency- C:0.07NA CSA WA EA 244
    rs1137869441,2
    C--5381608(+) TTATTA/-AAAAA 1 -- ds50011Minor allele frequency- -:0.00CSA 2
    rs1153986341,2
    F--5381682(+) AAATAT/CTTAAA 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs739371181,2
    C,F--5381746(+) CTGTAC/TACTCT 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs2013416091,2
    --5381757(+) TGGGG-/TTTTTT 1 -- ds50010--------
    rs580492471,2
    C,F--5381798(+) CTACCG/ATGCAG 1 -- ds50012Minor allele frequency- A:0.15CSA WA 120

    HapMap Linkage Disequilibrium report for EPB41L3 (5392383 - 5630699 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for EPB41L3 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3439CNV Deletion18987735
    esv989108CNV Deletion20482838
    esv2666529CNV Deletion23128226
    esv2716715CNV Deletion23290073
    esv2671954CNV Deletion23128226
    esv2716717CNV Deletion23290073
    esv2716716CNV Deletion23290073
    esv2716719CNV Deletion23290073
    esv273358CNV Insertion20981092
    dgv53n6CNV Loss16902084

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EPB41L3
    DNA2.0 Custom Variant and Variant Library Synthesis for EPB41L3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605331    OMIM disorders: --

    20/23 diseases for EPB41L3 (see all 23):    About MalaCards
    prostate cancer, progression and metastasis of    prostate cancer, progression of    meninges hemangiopericytoma    adenocarcinoma
    benign meningioma    hereditary elliptocytosis    hemangiopericytoma    meningioma
    neurofibromatosis    ependymoma    renal clear cell carcinoma    meningitis
    lung adenocarcinoma    prostate cancer    non-small cell lung carcinoma    lung cancer
    ovarian cancer    prostatitis    schizophrenia    breast cancer


    EPB41L3 for disorders           About GeneDecksing

    10/13 Novoseek inferred disease relationships for EPB41L3 gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 2 76.2 4 15674477 (1), 15542977 (1), 15535129 (1), 19429976 (1)
    meningioma 75.7 39 19429976 (5), 10888600 (4), 15116094 (3), 15688033 (3) (see all 13)
    benign meningioma 67.1 1 16707455 (1)
    carcinoma non-small cell lung 55.3 4 9892180 (2), 15334060 (1), 10888600 (1)
    adenocarcinoma 53.5 17 15837747 (2), 15116094 (1), 17415786 (1), 18554153 (1) (see all 13)
    tumors 43.8 48 19429976 (5), 11300722 (4), 15837747 (3), 18554153 (2) (see all 22)
    lung tumor 42.6 3 12234973 (2), 15837747 (1)
    neoplastic transformation 38.8 1 15517334 (1)
    brain tumors 38.6 4 16420693 (1), 10888600 (1)
    nsclc 35.4 16 16205641 (5), 15837747 (3), 19624891 (3)

    Genetic Association Database (GAD): EPB41L3
    Human Genome Epidemiology (HuGE) Navigator: EPB41L3 (1 document)

    Export disorders for EPB41L3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EPB41L3 gene, integrated from 9 sources (see all 96) (see top 10):
    (articles sorted by number of sources associating them with EPB41L3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel member of the NF2/ERM/4.1 superfamily with growth suppressing properties in lung cancer. (PubMed id 9892180)1, 2, 3, 9 Tran Y.K....Newsham I.F. (1999)
    2. Direct association of TSLC1 and DAL-1, two distinct tumor suppressor proteins in lung cancer. (PubMed id 12234973)1, 2, 9 Yageta M.... Murakami Y. (2002)
    3. The tumor suppressor DAL-1/4.1B and protein methylation cooperate in inducing apoptosis in MCF-7 breast cancer cells. (PubMed id 16420693)1, 2, 9 Jiang W. and Newsham I.F. (2006)
    4. 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. (PubMed id 15334060)1, 2, 9 Singh V....Newsham I.F. (2004)
    5. Structural basis of tumor suppressor in lung cancer 1 (TSLC1) binding to differentially expressed in adenocarcinoma of the lung (DAL -1/4.1B). (PubMed id 21131357)1, 2 Busam R.D....Hallberg B.M. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2 Nagase T.... Ohara O. (1999)
    10. Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human. (PubMed id 9828140)1, 3 Peters L.L....Conboy J.G. (1998)
    11. Downregulation of TSLC1 and DAL-1 expression occurs frequently in breast cancer. (PubMed id 17260099)1, 9 Heller G....Zochbauer-Muller S. (2007)
    12. Promoter methylation of DAL-1/4.1B predicts poor prognosis in non-small cell lung cancer. (PubMed id 15837747)1, 9 Kikuchi S....Murakami Y. (2005)
    13. Immunolocalization of protein 4.1B/DAL-1 during neoplastic transformation of mouse and human intestinal epithelium. (PubMed id 15517334)1, 9 Ohno N....Ohno S. (2004)
    14. Disruption of 14-3-3 binding does not impair Protein 4.1B growth suppression. (PubMed id 15116094)1, 9 Robb V.A....Gutmann D.H. (2004)
    15. Expression and methylation pattern of TSLC1 cascade genes in lung carcinomas. (PubMed id 16205641)1, 9 Heller G....Zochbauer-Muller S. (2006)
    16. Membrane localization of the U2 domain of Protein 4.1B is necessary and sufficient for meningioma growth suppression. (PubMed id 15688033)1, 9 Robb V.A....Gutmann D.H. (2005)
    17. Potential role of EPB41L3 (protein 4.1B/Dal-1) as a target for treatment of advanced prostate cancer. (PubMed id 18554153)1, 9 Bernkopf D.B. and Williams E.D. (2008)
    18. Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas. (PubMed id 10888600)1, 9 Gutmann D.H....Newsham I.F. (2000)
    19. Promoter hypermethylation of the potential tumor suppressor DAL-1/4.1B gene in renal clear cell carcinoma. (PubMed id 16152585)1, 9 Yamada D....Murakami Y. (2006)
    20. Frequent concomitant epigenetic silencing of the stress-responsive tumor suppressor gene CADM1, and its interacting partner DAL-1 in nasal NK/T-cell lymphoma. (PubMed id 19115211)1, 9 Fu L....Tao Q. (2009)
    21. Multiple meningiomas: Investigating the molecular basis of sporadic and familial forms. (PubMed id 12478663)1, 9 Heinrich B....MacCollin M. (2003)
    22. SynCAM1 recruits NMDA receptors via protein 4.1B. (PubMed id 19796685)1, 9 Hoy J.L....Washbourne P. (2009)
    23. A Golgi-associated protein 4.1B variant is required for assimilation of proteins in the membrane. (PubMed id 19299464)1, 9 Kang Q....An X. (2009)
    24. Evolutionarily conserved coupling of transcription and alternative splicing in the EPB41 (protein 4.1R) and EPB41L3 (protein 4.1B) genes. (PubMed id 16242908)1, 9 Tan J.S....Conboy J.G. (2005)
    25. 14-3-3 proteins sequester a pool of soluble TRIM32 ubi quitin ligase to repress autoubiquitylation and cytoplasmic body formation. (PubMed id 23444366)1 Ichimura T....Hachiya N. (2013)
    26. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    27. Deubiquitinase FAM/USP9X interacts with the E3 ubiquit in ligase SMURF1 protein and protects it from ligase activity-dependent self-deg radation. (PubMed id 23184937)1 Xie Y....Cong F. (2013)
    28. The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus. (PubMed id 23084401)1 Singh G....Moore M.J. (2012)
    29. Aberrant expression of tumor suppressors CADM1 and 4.1 B in invasive lesions of primary breast cancer. (PubMed id 21526423)1 Takahashi Y....Murakami Y. (2012)
    30. A four-gene methylation marker panel as triage test in high-risk human papillomavirus positive patients. (PubMed id 21796628)1 Eijsink J.J....Wisman G.B. (2012)
    31. Loss of expression of the differentially expressed in adenocarcinoma of the lung (DAL-1) protein is associated with metastasis of non- small cell lung carcinoma cells. (PubMed id 22782504)1 Zhang Y....Wang H. (2012)
    32. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    33. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    34. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    35. Interactome mapping suggests new mechanistic details u nderlying Alzheimer's disease. (PubMed id 21163940)1 Soler-Lopez M....Aloy P. (2011)
    36. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    37. miRNA-223 promotes gastric cancer invasion and metast asis by targeting tumor suppressor EPB41L3. (PubMed id 21628394)1 Li X....Daiming F. (2011)
    38. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    39. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    40. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (2010)
    41. [Expressions and clinical significances of TSLC1 and 4.1B in non-small cell lung cancer]. (PubMed id 21081044)1 Wang Z....Chen Z. (2010)
    42. Association of IFIH1 and other autoimmunity risk alle les with selective IgA deficiency. (PubMed id 20694011)4 Ferreira R.C....HammarstrAPm L. (2010)
    43. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    44. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    45. Microcell-mediated chromosome transfer identifies EPB 41L3 as a functional suppressor of epithelial ovarian cancers. (PubMed id 20651987)1 Dafou D....Gayther S.A. (2010)
    46. An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
    47. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    48. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    49. Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. (PubMed id 19165527)1 Martins-de-Souza D....Turck C.W. (2009)
    50. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PubMed id 18057069)4 Cronin S....Hardiman O. (2008)
    51. The tale of two domains: proteomics and genomics analysis of SMYD2, a new histone methyltransferase. (PubMed id 18065756)1 Abu-Farha M....Figeys D. (2008)
    52. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)4 O'Donnell C.J....Demissie S. (2007)
    53. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    54. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (2007)
    55. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (2007)
    56. Functional specialization of beta-arrestin interactions revealed by proteomic analysis. (PubMed id 17620599)1 Xiao K....Lefkowitz R.J. (2007)
    57. Protein 4.1B suppresses prostate cancer progression and metastasis. (PubMed id 17640904)1 Wong S.Y....Hynes R.O. (2007)
    58. New insights into potential functions for the protein 4.1 superfamily of proteins in kidney epithelium. (PubMed id 16368544)1 Calinisan V....Gascard P. (2006)
    59. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
    60. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    61. The tumor suppressor DAL-1/4.1B modulates protein arginine N-methyltransferase 5 activity in a substrate-specific manner. (PubMed id 15737618)2 Jiang W....Newsham I.F. (2005)
    62. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    63. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    64. Mutational analysis of the DAL-1/4.1B tumour-suppressor gene locus in meningiomas. (PubMed id 16142420)1 Martinez-Glez V....Rey J.A. (2005)
    65. Alterations of protein 4.1 family members in ependymomas: a study of 84 cases. (PubMed id 15731777)1 Rajaram V....Perry A. (2005)
    66. Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. (PubMed id 16213361)1 Nunes F....MacCollin M. (2005)
    67. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    68. Allele-specific loss of heterozygosity at the DAL-1/4.1B (EPB41L3) tumor-suppressor gene locus in the absence of mutation. (PubMed id 15138999)1 Kittiniyom K....Newsham I.F. (2004)
    69. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. (PubMed id 15324660)1 Jin J....Pawson T. (2004)
    70. Phosphoproteomic analysis of the developing mouse brain. (PubMed id 15345747)1 Ballif B.A.... Gygi S.P. (2004)
    71. Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres. (PubMed id 12542678)1 Denisenko-Nehrbass N....Girault J.A. (2003)
    72. Suppression of growth and increased cellular attachment after expression of DAL-1 in MCF-7 breast cancer cells. (PubMed id 12115567)1 Charboneau A.L....Newsham I.F. (2002)
    73. The 4.1/ezrin/radixin/moesin domain of the DAL-1/Protein 4.1B tumour suppressor interacts with 14-3-3 proteins. (PubMed id 11996670)1 Yu T....Newsham I.F. (2002)
    74. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1 Nakayama M....Ohara O. (2002)
    75. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    76. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D....White O. (1995)
    77. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. (PubMed id 8401585)1 Adams M.D....Venter J.C. (1993)
    78. [Expression and significance of membrane skeleton pro tein 4.1 family in non-small cell lung cancer] (PubMed id 19624891)9 Zheng X.Y....An X.L. (2009)
    79. Hypermethylation of the Dal-1 gene in lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amine in rats. (PubMed id 17415786)9 Tsujiuchi T....Honoki K. (2007)
    80. Expression of the tumor suppressor genes NF2, 4.1B, a nd TSLC1 in canine meningiomas. (PubMed id 19429976)9 Dickinson P.J....Gutmann D.H. (2009)
    81. Protein 4.1B/differentially expressed in adenocarcinoma of the lung-1 functions as a growth suppressor in meningioma cells by activating Rac1-dependent c-Jun-NH(2)-kinase signaling. (PubMed id 16707455)9 Gerber M.A....Gutmann D.H. (2006)
    82. The protein 4.1 tumor suppressor, DAL-1, impairs cell motility, but regulates proliferation in a cell-type-specific fashion. (PubMed id 11300722)9 Gutmann D.H....Haipek C.A. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23136 HGNC: 3380 AceView: EPB41L3 Ensembl:ENSG00000082397 euGenes: HUgn23136
    ECgene: EPB41L3 Kegg: 23136 H-InvDB: EPB41L3

    (According to HUGE)
    About This Section
    HUGE: KIAA0987

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EPB41L3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EPB41L3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
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    Patent Information for EPB41L3 gene:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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