Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

EPB41 Gene

protein-coding   GIFtS: 61
GCID: GC01P029213

Erythrocyte Membrane Protein Band 4.1 (Elliptocytosis 1,...


(Previous symbol: EL1)
Alzheimer's & Parkinson's Diseases Congress
  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 (Elliptocytosis 1, RH-Linked)1 2     P4.12 3
EL11 2 5     HE2
Band 4.12 3     Erythrocyte Surface Protein Band 4.12
4.1R2 3     Protein 4.12
EPB4.12 3     E41P3

External Ids:    HGNC: 33771   Entrez Gene: 20352   Ensembl: ENSG000001590237   OMIM: 1305005   UniProtKB: P111713   

Export aliases for EPB41 gene to outside databases

Previous GC identifers: GC01P029320 GC01P028379 GC01P028718 GC01P029002 GC01P029003 GC01P029034 GC01P027466


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

Entrez Gene summary for EPB41 Gene:
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal
network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are
associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different
isoforms have been described for this gene.(provided by RefSeq, Oct 2009)

GeneCards Summary for EPB41 Gene: 
EPB41 (erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)) is a protein-coding gene. Diseases associated with EPB41 include serous labyrinthitis, and purulent labyrinthitis, and among its related super-pathways are Sertoli-Sertoli Cell Junction Dynamics and PAK Pathway. 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: 41_HUMAN, P11171
Function: Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in
regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin
interaction. Recruits DLG1 to membranes

Gene Wiki entry for EPB41 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_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB41 gene promoter:
         Bach1   STAT1   MAZR   STAT1beta   AP-4   STAT1alpha   C/EBPalpha   CHOP-10   GATA-6   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB41 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB41

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41


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

Entrez Gene cytogenetic band: 1p33-p32   Ensembl cytogenetic band:  1p35.3   HGNC cytogenetic band: 1p33-p32

EPB41 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P029213:  view genomic region     (about GC identifiers)

Start:
29,213,603 bp from pter      End:
29,446,558 bp from pter
Size:
232,956 bases      Orientation:
plus 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: 41_HUMAN, P11171 (See protein sequence)
Recommended Name: Protein 4.1  
Size: 864 amino acids; 97017 Da
Subunit: Binds with a high affinity to glycophorin and with lower affinity to band III protein. Associates with
the nuclear mitotic apparatus. Binds calmodulin, CENPJ and DLG1. Also found to associate with contractile
apparatus and tight junctions
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus
3 PDB 3D structures from and Proteopedia for EPB41:
1GG3 (3D)        2RQ1 (3D)        3QIJ (3D)    
Secondary accessions: B1ALH8 B1ALH9 D3DPM9 D3DPN0 P11176 Q14245 Q5TB35 Q5VXN8 Q8IXV9 Q9Y578
Q9Y579
Alternative splicing: 7 isoforms:  P11171-1   P11171-2   P11171-3   P11171-4   P11171-5   P11171-6   P11171-7   

Explore the universe of human proteins at neXtProt for EPB41: NX_P11171

Explore proteomics data for EPB41 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates
    the protein's functions
  • UniProtKB: Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary
    complex
  • UniProtKB: O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11171

  • EPB41 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPB41 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001159477.1  NP_001159478.1  NP_001159479.1  NP_004428.1  NP_976217.1  NP_976218.1  

    ENSEMBL proteins: 
     ENSP00000362906   ENSP00000317597   ENSP00000290100   ENSP00000362904   ENSP00000362903  
     ENSP00000345259   ENSP00000348397   ENSP00000381839  

    Human Recombinant Protein Products for EPB41: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for EPB41
    GenScript Custom Purified and Recombinant Proteins Services for EPB41
    Novus Biologicals EPB41 Protein
    Novus Biologicals EPB41 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPB41 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005856cytoskeleton ----
    GO:0005886plasma membrane IDA--
    GO:0008091spectrin TAS6894932

    EPB41 for ontologies           About GeneDecksing



    EPB41 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for EPB41
    GenScript Custom Superior Antibodies Services for EPB41
    Novus Biologicals EPB41 Antibodies
    Abcam antibodies for EPB41
    Cloud-Clone Corp. Antibodies for EPB41 
    Search ThermoFisher Antibodies for EPB41
    LSBio Antibodies in human, mouse, rat for EPB41 

    Assay Products for EPB41: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for EPB41
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for EPB41
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EPB41 
    Cloud-Clone Corp. CLIAs for EPB41


    (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 P11171

    ProtoNet protein and cluster: P11171

    2 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB007477 SAB


    UniProtKB/Swiss-Prot: 41_HUMAN, P11171
    Similarity: Contains 1 FERM domain


    EPB41 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: 41_HUMAN, P11171
    Function: Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in
    regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin
    interaction. Recruits DLG1 to membranes

         Genatlas biochemistry entry for EPB41:
    erythrocyte surface protein,band 4.1,80kDa,with a complex tissue-specific and developmentally regulated erythroid
    and non erythroid expression pattern resulting from extensive alternative pre m-RNA splicing,two possible
    initiation sites and post translational modification,located in cytoplasm and/or nucleus in non erythroid
    cells,binding F-actin to spectrin dimers and crucial for the maintenance of integral membrane red blood cell
    shape,ezrin/moesin/radixin-like (ERM) family member, responding and participating in reorganization of
    membrane-cytoplasmic interactions

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS6894932
    GO:0005515protein binding IPI10692436
    GO:0005516calmodulin binding IEA--
         
    EPB41 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Epb4.1):
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  renal/urinary system 

    EPB41 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB41 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPB41

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPB41 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EPB41 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPB41
    8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41 (see all 87):
    hsa-miR-579 hsa-miR-361-5p hsa-miR-300 hsa-miR-106a hsa-miR-128 hsa-miR-30d hsa-miR-30a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidEPB41 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EPB41
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EPB41
    Sirion Biotech Customized adenovirus for overexpression of EPB41

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for EPB41 (see all 29)
    OriGene ORF clones in mouse, rat for EPB41
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): EPB41 (NM_203343)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPB41
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41
    Sirion Biotech Customized lentivirus for stable overexpression of EPB41 
                         Customized lentivirus expression plasmids for stable overexpression of EPB41 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EPB41
    Search LifeMap BioReagents cell lines for EPB41
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41


    (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 EPB41 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    2PAK Pathway
    Epithelial Adherens Junctions0.36
    3Syndecan-2-mediated signaling events
    Syndecan-2-mediated signaling events
    4Tight junction
    Tight junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EPB41
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions
    Epithelial Adherens Junctions

    1 BioSystems Pathway for EPB41
        Syndecan-2-mediated signaling events


    1         Kegg Pathway  (Kegg details for EPB41):
        Tight junction


    EPB41 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPB41

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

    5/152 Interacting proteins for EPB41 (P111712, 3 ENSP000002901004) via UniProtKB, MINT, STRING, and/or I2D (see all 152)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASKO149362, 3, ENSP000003674084MINT-17057 I2D: score=5 STRING: ENSP00000367408
    SMAD3P840222, 3, ENSP000003329734MINT-51239 I2D: score=3 STRING: ENSP00000332973
    ENSG00000230685O002993, ENSP000004080944I2D: score=1 STRING: ENSP00000408094
    CLIC1O002993I2D: score=1 
    ENSG00000206394O002993I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008015blood circulation TAS6894932
    GO:0030036actin cytoskeleton organization NAS8434260
    GO:0030866cortical actin cytoskeleton organization IEA--
    GO:0032092positive regulation of protein binding IDA3693401

    EPB41 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

    EPB41 for compounds           About GeneDecksing

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

    Browse Tocris compounds for EPB41 (41)

    2 Novoseek inferred chemical compound relationships for EPB41 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 5 11224681 (1), 11017195 (1)
    glutamate 0 1 17298666 (1)

    Search CenterWatch for drugs/clinical trials and news about EPB41 / 41

    (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 EPB41 gene (6 alternative transcripts): 
    NM_001166005.1  NM_001166006.1  NM_001166007.1  NM_004437.3  NM_203342.2  NM_203343.2  

    Unigene Cluster for EPB41:

    Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
    Hs.175437  [show with all ESTs]
    Unigene Representative Sequence: BC081539
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000482464 ENST00000373800 ENST00000349460(uc021okg.1) ENST00000347529
    ENST00000373798(uc001brl.2 uc009vtm.2 uc009vtl.2 uc009vtn.2)
    ENST00000373797(uc009vtk.2 uc001brk.3) ENST00000488277 ENST00000490308
    ENST00000460378 ENST00000462032 ENST00000343067(uc001brm.2 uc001brg.2)
    ENST00000356093(uc001brh.2 uc001brj.2 uc001bri.2) ENST00000398863


    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EPB41
    8/87 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41 (see all 87):
    hsa-miR-579 hsa-miR-361-5p hsa-miR-300 hsa-miR-106a hsa-miR-128 hsa-miR-30d hsa-miR-30a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidEPB41 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EPB41
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41
    Clone
    Products:
         
    OriGene clones in human, mouse for EPB41 (see all 29)
    OriGene ORF clones in mouse, rat for EPB41
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): EPB41 (NM_203343)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EPB41
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41
    Sirion Biotech Customized lentivirus for stable overexpression of EPB41 
                         Customized lentivirus expression plasmids for stable overexpression of EPB41 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for EPB41
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPB41
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41

    Additional mRNA sequence: 

    AB209649.1 AF156225.1 AK172796.1 AK299093.1 AK299736.1 AK307816.1 AK310655.1 BC009063.1 
    BC039079.1 BC081539.1 BC096104.1 BC096105.1 BC113841.1 BC114450.1 J03796.1 M14993.1 
    M61733.1 

    17 DOTS entries:

    DT.100827927  DT.444098  DT.99939612  DT.100718032  DT.100827925  DT.91996271  DT.100827924  DT.100827922 
    DT.100827930  DT.121442050  DT.101983016  DT.121441960  DT.92420651  DT.121441976  DT.92420646  DT.95069023 
    DT.92420649 

    24/370 AceView cDNA sequences (see all 370):

    CF136825 BU736589 BM452936 AA448885 BC039079 AA730984 CD109824 BC009063 
    CA390275 AI656046 NM_203342 BU164992 CR601097 BQ422444 BF868865 BG943340 
    BF476313 AI400417 BQ424914 BM454463 AI241891 BX492942 AL520065 BE693495 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ·
    SP1:                                                        -                                                                                                   
    SP2:                                                                                                                                      -                     
    SP3:                                                        -                                                                       -     -                     
    SP4:                                                                                                                                -     -                     
    SP5:              -     -                                   -                 -                                                     -     -     -               

    ExUns: 19c ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b
    SP1:  -     -     -     -     -                                             
    SP2:  -     -     -     -     -                                             
    SP3:  -     -     -     -     -                                             
    SP4:  -     -     -     -     -                 -                           
    SP5:  -     -     -     -     -                                             


    ECgene alternative splicing isoforms for EPB41

    (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

    EPB41 expression in normal human tissues (normalized intensities)      EPB41 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGACTCTGG
    EPB41 Expression
    About this image


    EPB41 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Proerythroblasts Hematopoietic Bone Marrow
             neutrophils   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
             cerebellum   
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Umbilical Cord (Extraembryonic Tissues)
             umbilical cord reticulocytes   
     
     Bone (Muscoskeletal System)
             bone marrow   

    See EPB41 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB41

    SOURCE GeneReport for Unigene cluster: Hs.175437
        SABiosciences Expression via Pathway-Focused PCR Array including EPB41: 
              Tight Junctions in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for EPB41
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat EPB41
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41

    (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 EPB41 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 Epb4.11 , 5 erythrocyte protein band 4.11, 5 88.2(n)1
    91.94(a)1
      4 (64.54 cM)5
    2695871  NM_183428.31  NP_906273.31 
     1319234135 
    chicken
    (Gallus gallus)
    Aves EPB411 erythrocyte membrane protein band 4.1 (elliptocytosis more 74.48(n)
    79.37(a)
      396493  NM_001168004.1  NP_001161476.1 
    lizard
    (Anolis carolinensis)
    Reptilia EPB416
    erythrocyte membrane protein band 4.1 (elliptocyto...
    76(a)
    1 ↔ 1
    GL344047.1(15865-43347)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3977412 cytoskeletal protein 4.1 76.32(n)    M20621.1 
    zebrafish
    (Danio rerio)
    Actinopterygii epb41a6
    erythrocyte membrane protein band 4.1a (elliptocyt...
    41(a)
    1 ↔ 1
    19(30165748-30225681)
    fruit fly
    (Drosophila melanogaster)
    Insecta cora3 cytoskeleton organization and
    biogenesis cytoskeletal more
    59(a)
    (best of 2)
      56C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea frm-16
    Protein FRM-1, isoform e
    5(a)
    1 → many
    I(14875784-14900330)


    ENSEMBL Gene Tree for EPB41 (if available)
    TreeFam Gene Tree for EPB41 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41 gene
    EPB41L52  FRMD32  EPB41L12  PTPN32  EPB41L4B2  FARP12  PTPN42  FRMD52  
    EPB41L32  FRMD72  EPB41L4A2  FARP22  EPB41L22  
    14 SIMAP similar genes for EPB41 using alignment to 6 protein entries:     41_HUMAN (see all proteins):
    DKFZp564J1082    EPB41L1    PTPN4    EPB41L2    EPB41L4B    EPB41L4A
    FRMD5    FRMD3    EPB41L5    EPB41L3    FARP1    FARP2
    RDX    MSN

    EPB41 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

    10/4125 SNPs in EPB41 are shown (see all 4125)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214345641,2
    Cpathogenic129539766(+) GAACAC/G/TGCACT 18 T R M mis10--------
    rs557472311,2
    C--27475682(+) AGCAGTGAG/-  
            
    CGATG
    5 -- int11Minor allele frequency- -:0.50NA 2
    rs675777671,2
    C--27479329(+) ATAAG-/CATG  
      CACCAC
    CATGC
    5 -- int10--------
    rs595003791,2
    C--27479334(+) CATGC-/ACCA  
      CCATGC
    TAGGC
    5 -- int10--------
    rs1135311911,2
    C--27486150(+) AGAGAC/TATGGT 5 -- int11Minor allele frequency- T:0.50CSA 2
    rs712944681,2
    C--27487954(+) TACAA-/ATA   
      G
    /TAGA
    TAGAT
    5 -- int11NA 2
    rs23075621,2
    C,F--27493196(+) TTTGACGAGGG  
     AAAAT
    /-
    CGGTC
    6 -- int16Minor allele frequency- -:0.10EU NA EA CSA 346
    rs113538021,2
    C--27500768(+) CAGGAT/-TTTTT 6 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs1507134231,2
    C--27512807(+) GACAT-/TTGTG 
    /TTGTGTG
    TGTGT
    6 -- int10--------
    rs717987621,2
    C--27525554(+) CTCAG-/ACAAA 
     CAAACAA
    ACAAA
    6 -- int10--------

    HapMap Linkage Disequilibrium report for EPB41 (29213603 - 29446558 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for EPB41:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745863CNV Deletion23290073
    esv2670595CNV Deletion23128226
    esv2672867CNV Deletion23128226
    esv2673135CNV Deletion23128226
    esv2745852CNV Deletion23290073
    nsv509091CNV Insertion20534489
    nsv7579CNV Loss18451855
    esv25713CNV Loss19812545
    nsv511687CNV Loss21212237


    Human Gene Mutation Database (HGMD): EPB41
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EPB41
    DNA2.0 Custom Variant and Variant Library Synthesis for EPB41

    (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: 130500   
    OMIM disorders: 611804  
    UniProtKB/Swiss-Prot: 41_HUMAN, P11171
  • Elliptocytosis 1 (EL1) [MIM:611804]: A Rhesus-linked form of hereditary elliptocytosis, a genetically
    heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and
    elliptical or oval red cell shape. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Hereditary pyropoikilocytosis (HPP) [MIM:266140]: Autosomal recessive hematologic disorder characterized
    by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for EPB41:    About MalaCards
    serous labyrinthitis    purulent labyrinthitis    labyrinthitis    elliptocytosis-1
    hereditary elliptocytosis    homozygous hereditary elliptocytosis    pyropoikilocytosis    neuroacanthocytosis
    ependymoma    hemolytic anemia    sickle cell disease    rabies
    neurofibromatosis    meningioma    anemia    neuroblastoma
    gastric cancer    lung cancer    endotheliitis

    4 diseases from the University of Copenhagen DISEASES database for EPB41:
    Hereditary elliptocytosis     Anemia     Neurofibromatosis     Malaria

    EPB41 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for EPB41 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    elliptocytosis hereditary 84.5 2 12432217 (1), 15071791 (1)
    tumors 0 2 16157202 (2)

    Genetic Association Database (GAD): EPB41
    Human Genome Epidemiology (HuGE) Navigator: EPB41 (2 documents)

    Export disorders for EPB41 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 EPB41 gene, integrated from 9 sources (see all 132):
    (articles sorted by number of sources associating them with EPB41)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An alternative domain containing a leucine-rich sequence regulates nuclear cytoplasmic localization of protein 4.1R. (PubMed id 12427749)1, 2, 9 Luque C.M.... Correas I. (2003)
    2. Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization. (PubMed id 11017195)1, 2, 9 Han B.-G.... Jap B.K. (2000)
    3. Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population. (PubMed id 20797695)1, 4 Xue F....Rabie A.B. (2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    5. Mitotic regulation of protein 4.1R involves phosphorylation by cdc2 kinase. (PubMed id 15525677)1, 2 Huang S.-C.... Benz E.J. Jr. (2005)
    6. 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)
    7. Properties of the C-terminal domain of 4.1 proteins. (PubMed id 11432737)1, 2 Scott C.... Baines A.J. (2001)
    8. Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex. (PubMed id 11003675)1, 2 Hung L.-Y.... Tang T.K. (2000)
    9. Ca(2+)-dependent and Ca(2+)-independent calmodulin binding sites in erythrocyte protein 4.1. Implications for regulation of protein 4.1 interactions with transmembrane proteins. (PubMed id 10692436)1, 2 Nunomura W.... Mohandas N. (2000)
    10. Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1. (PubMed id 7937897)1, 2 Lue R.A.... Chishti A.H. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2035 HGNC: 3377 AceView: EPB41 Ensembl:ENSG00000159023 euGenes: HUgn2035
    ECgene: EPB41 Kegg: 2035 H-InvDB: EPB41

    (According to HUGE)
    About This Section
      --

    (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 EPB41 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EPB41 gene:
    Search GeneIP for patents involving EPB41

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for EPB41  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for EPB41  
     OriGene qSTAR qPCR primer pairs in human, mouse for EPB41   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for EPB41   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for EPB41   OriGene Custom Protein Services for EPB41  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat EPB41
     QIAGEN SeqTarget long-range PCR primers for resequencing EPB41
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EPB41
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EPB41
     GenScript Custom Purified and Recombinant Proteins Services for EPB41 GenScript cDNA clones with any tag delivered in your preferred vector for EPB41
     GenScript Custom Assay Services for EPB41 GenScript Custom Superior Antibodies Services for EPB41
     GenScript Custom overexpressing Cell Line Services for EPB41 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in EPB41 promoter
     Search Chromatin IP Primers for EPB41
     RT2 qPCR Primer Assay in human, mouse, rat EPB41
     GNC Network for EPB41
     SABiosciences PCR Arrays including human, mouse, rat EPB41
     Search Tocris compounds for EPB41 (41)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     EPB41 antibodies
     EPB41 proteins
     EPB41 lysates
     Antibodies for EPB41
     See all of Abcam's Antibodies, Kits and Proteins for EPB41
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for EPB41
     Antibodies for EPB41
     ELISAs for EPB41
     CLIAs for EPB41
     Search LifeMap BioReagents cell lines for EPB41
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41
     SwitchGear 3'UTR luciferase reporter plasmids for EPB41
     SwitchGear Promoter luciferase reporter plasmids for EPB41
     Search ThermoFisher Antibodies for EPB41
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EPB41
     inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB41
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EPB41
    Customized:
     lentivirus for stable overexpression of EPB41
     lentivirus expression plasmids for stable overexpression of EPB41
     adenovirus for overexpression of EPB41
     LSBio Antibodies in human, mouse, rat for EPB41
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      EPB41 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4