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EPB41 Gene

protein-coding   GIFtS: 62
GCID: GC01P029213

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


(Previous symbol: EL1)
  See EPB41-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 elliptocytosis-1, and hereditary elliptocytosis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   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 Chromatin IP Primers for EPB41

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Phosphorylated at multiple sites by different protein kinases and each phosphorylation event selectively modulates
    the protein's functions1
  • Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of the spectrin/actin/4.1 ternary
    complex1
  • O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EPB41 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    EPB41 Human Recombinant Protein Products:

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    Novus Biologicals EPB41 Protein
    Novus Biologicals EPB41 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EPB41

     
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    antibodies-online proteins for EPB41 (5 products) 

     
    antibodies-online peptides for EPB41

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    antibodies-online antibodies for EPB41 (69 products) 

    EPB41 Assay Products:

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    Cloud-Clone Corp. ELISAs for EPB41
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    antibodies-online kits for EPB41 (12 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected 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


    Find genes that share domains with EPB41           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with EPB41           About GenesLikeMe


    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 

    Find genes that share phenotypes with EPB41           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EPB41

    miRNA
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    miRTarBase miRNAs that target EPB41:
    hsa-mir-320b (MIRT036194), hsa-mir-877-3p (MIRT037204), hsa-mir-320a (MIRT044608), hsa-mir-342-3p (MIRT043725), hsa-mir-423-5p (MIRT038089), hsa-mir-148b-3p (MIRT019288)

    Block miRNA regulation of human, mouse, rat EPB41 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat EPB41

    Gene Editing
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    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
    Addgene plasmids for EPB41 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EPB41


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    41_HUMAN, P11171: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    golgi apparatus4
    plasma membrane4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005794Golgi apparatus ----
    GO:0005856cytoskeleton ----
    GO:0005886plasma membrane TAS9598318
    GO:0008091spectrin TAS6894932

    Find genes that share ontologies with EPB41           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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
    3Tight junction
    Tight junction
    4Syndecan-2-mediated signaling events
    Syndecan-2-mediated signaling events


    Find genes that share SuperPaths with EPB41           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler PCR Array including EPB41: 
              Tight Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EPB41

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

    Selected Interacting proteins for EPB41 (P111712, 3 ENSP000002901004) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    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:    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

    Find genes that share ontologies with EPB41           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)

    2 PharmGKB related drug/compound annotations for EPB41 gene    About this table
    Drug/compound PharmGKB Annotation
    bupropionCA  
    nicotineCA  



    Find genes that share compounds with EPB41           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

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    Selected qRT-PCR 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
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      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 

    Selected AceView cDNA sequences (see all 370):

    BM704269 AA911247 CF136825 BM452936 AI241891 BU736589 AL520065 AI656046 
    CB158940 AA730984 BU164992 CR622465 BP364691 BG943340 BE693495 BU663983 
    CA390275 AA342636 BF868865 AI810252 J03796 BQ424914 AL041809 BQ422444 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EPB41 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Brain (Nervous System)
             Cerebellum
     
     Epidermis (Integumentary System)
    EPB41 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EPB41 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.175437
        Pathway & Disease-focused RT2 Profiler PCR Array including EPB41: 
              Tight Junctions in human mouse rat

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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for EPB41 gene from Selected species (see all 14)    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 73.99(n)
    78.75(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
    epb41b6
    erythrocyte membrane protein band 4.1a (elliptocyt...
    erythrocyte membrane protein band 4.1b (elliptocyt...
    50(a)
    17(a)
    1 ↔ many
    1 ↔ many
    19(30159897-30225681) ENSDARG00000070585
    16(28700399-28738953) ENSDARG00000029019
    fruit fly
    (Drosophila melanogaster)
    Insecta cora3 cytoskeleton organization and
    biogenesis cytoskeletal more
    59(a)
    (best of 2)
      56C4   --


    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)
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    Paralogs for EPB41 gene
    EPB41L52  FRMD32  EPB41L12  PTPN32  EPB41L4B2  FARP12  PTPN42  FRMD52  
    FRMD72  EPB41L32  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

    Find genes that share paralogs with EPB41           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EPB41 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 4 diseases for EPB41:    
    About MalaCards
    elliptocytosis-1    hereditary elliptocytosis    corneal ulcer    neuroacanthocytosis

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

    Find genes that share disorders with EPB41           About GenesLikeMe

    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)
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    PubMed articles for EPB41 gene, integrated from 10 sources (see all 134):
    (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. (J. Biol. Chem. 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. (Nat. Struct. Biol. 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. (Arch. Oral Biol. 2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 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. (Mol. Biol. Cell 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. (Genome Res. 2004)
    7. Properties of the C-terminal domain of 4.1 proteins. (PubMed id 11432737)1, 2 Scott C.... Baines A.J. (Eur. J. Biochem. 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. (Mol. Cell. Biol. 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. (J. Biol. Chem. 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. (Proc. Natl. Acad. Sci. U.S.A. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2035 HGNC: 3377 AceView: EPB41 Ensembl:ENSG00000159023 euGenes: HUgn2035
    ECgene: EPB41 Kegg: 2035 H-InvDB: EPB41

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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



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