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EPB49 Gene

protein-coding   GIFtS: 59

GC08P021967
erythrocyte membrane protein band 4.9 (dematin)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
DMT 1, 2, 3, 5
FLJ78462 2
FLJ98848 2
dematin 2
Descriptions
Erythrocyte membrane protein band 4.9 2, 3
erythrocyte membrane protein band 4.9 (dematin) 2
External Ids
HGNC: 33821
Entrez Gene: 20392
UniProtKB: Q084953
Ensembl: ENSG000001588567
Search outside databases for aliases for EPB49 gene

Previous GC identifers: GC08P021672 GC08P022265 GC08P021727 GC08P021937 GC08P021938

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

EntrezGene summary for EPB49:
Dematin, or EPB49, is an actin-bundling protein originally identified in the erythroid membrane
skeleton. Its actin-bundling activity is abolished upon phosphorylation by cAMP-dependent protein
kinase and is restored after dephosphorylation (Rana et al., 1993 [PubMed 8341682]).[supplied by
OMIM]

UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495
Function: Actin-bundling protein. May function in mitogen-activated protein kinase pathway

Gene Wiki entry for EPB49

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the EPB49 gene  

Entrez Gene cytogenetic band: 8p21.1   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21.1

EPB49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P021967:     (about GC identifiers)

Start:
21,971,322 bp from pter
End:
21,995,982 bp from pter
Size:
24,661 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000008.9  NT_023666.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495 (See protein sequence)
Recommended Name: Dematin  
Size: 405 amino acids; 45514 Da
Subunit: Exists in solution as a trimer of two short isoforms and one long isoform linked by
disulfide bonds (Probable). Interacts with RASGRF2
Subcellular location: Cytoplasm
PDB structure from and Proteopedia :
1QZP (3D)    1ZV6 (3D)    
Secondary accessions: A8K0T5 B3KP70 Q13215 Q9BRE3
Alternative splicing: 2 isoforms:  Q08495-1   Q08495-2   

Post-translational modifications:

  • Actin-bundling activity is abolished upon phosphorylation by cAMP-dependent protein kinase1
  • The N-terminus is blocked1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (6 alternative transcripts): 
    NP_001107607.1  NP_001107608.1  NP_001107609.1  NP_001107610.1  NP_001107611.1  NP_001969.2  


    ENSEMBL proteins: 
    ENSP00000265800 ENSP00000370864 ENSP00000370879 ENSP00000350977 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Dematin)
    Human Recombinant Proteins from Abnova (EPB49)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0015629 actin cytoskeleton TAS8341682
    About this table

    Antibodies for EPB49: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for EPB49
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Dematin), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (EPB49)
    Novus Biologicals Antibodies for EPB49

    Assays for EPB49: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    1 InterPro domain/family:
     IPR003128 Villin_headpiece


       GeneDecks  EPB49 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q08495

    ProtoNet protein and cluster: Q08495

    1 Blocks protein family: IPB003128 Villin headpiece

    UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495
    Domain: Contains at least two actin-binding sites, one in the headpiece domain and one in the
    amino-terminal portion
    Domain: Consists of a large core fragment, the amino-terminal portion, and a small headpiece, the
    C-terminal portion. The headpiece can bind but cannot bundle actin filaments
    Similarity: Belongs to the villin/gelsolin family
    Similarity: Contains 1 HP (headpiece) domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (EPB49)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_001978

                  Applied Biosystems Silencer® siRNAs for EPB49

                  Sigma-Aldrich siRNA for EPB49  
                         Sigma-Aldrich shRNA for EPB49  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for EPB49
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001114135
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001114135
                                     untagged cDNA clones in CMV expression vector (see all 8): BC017445 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001114136

    UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495
    Function: Actin-bundling protein. May function in mitogen-activated protein kinase pathway

    Genatlas biochemistry entry for EPB49:
    erythrocyte surface protein 4.9,dematin,52kDa,actin binding protein,with homology with EPB42,villin
    family,including two isoforms in the brain

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Epb4.9):

    hematopoietic system

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779 actin binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    5/18 Interacting proteins for EPB49 (ENSP000003708643 Q084952) via UniProtKB, MINT, and/or STRING (see all 18 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PROCRQ9UNN82MINT-64074
    SNRPD2P623162MINT-64072
    SPTBENSP000003342183STRING (score=.853)
    TATENSP000003482343STRING (score=.84)
    PCNAENSP000003684383STRING (score=.8)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010 cytoskeleton organization TAS7615546
    GO:0051016 barbed-end actin filament capping IEA--
    GO:0051017 actin filament bundle formation TAS7615546
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for EPB49

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (EPB49)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_001978

                  Sigma-Aldrich siRNA for EPB49  
                         Sigma-Aldrich shRNA for EPB49  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001114135  NM_001114136  NM_001114137  NM_001114138  NM_001114139  NM_001978  

    REFSEQ mRNAs for EPB49 gene (6 alternative transcripts): 

    NM_001114135.2   NM_001114136.1   NM_001114137.1   NM_001114138.1   NM_001114139.1   NM_001978.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001114135  NM_001114136  NM_001114137  NM_001114138  NM_001114139  NM_001978  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001114135
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001114135
                                     untagged cDNA clones in CMV expression vector (see all 8): BC017445 

    Additional cDNA sequence: 

    AB209718.1 AK055842.1 AK091581.1 AK289650.1 AK295452.1 BC006318.2 BC017445.1 BC052805.1 
    BT007396.1 L19713.1 U28389.1 

    24 DOTS entries:

    DT.100817765  DT.92422954  DT.95187740  DT.452935  DT.95187741  DT.95187747  DT.100817758  DT.121488742 
    DT.95187737  DT.121488731  DT.95187746  DT.100817767  DT.100682649  DT.100817764  DT.100817766  DT.100836076 
    DT.121488754  DT.95226353  DT.91952423  DT.100817756  DT.100817763  DT.121488707  DT.121488717  DT.121488725 

    24/168 AceView cDNA sequences (see all 168 ):

    CB155183 F03346 CD674915 AW339606 F30467 BG055677 BI823974 AW473094 
    CK820030 AL138164 BX644547 BM141877 H26969 T34776 H65304 BX406256 
    R40779 AW473097 BF510971 F08518 AA383081 F04623 BX406966 T36075 

    highest scoring ESTs for EPB49:

    U28389 AA017251 AA338567 AA383081 AA666415 AI022986 AI866233 AK055842 AK091581 AW148980 

    Unigene Cluster for EPB49:

    Erythrocyte membrane protein band 4.9 (dematin)
    Hs.106124  [show with all ESTs]
    Unigene Representative Sequence: NM_001978


    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for EPB49 (see all 20 )

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^
    SP1:                                                              -     -           -     -     -                                               -     -         
    SP2:              -     -     -     -     -     -     -     -     -     -     -     -     -     -                                               -     -         
    SP3:                                -     -     -     -     -     -     -     -     -     -     -                 -                             -     -         
    SP4:                                                  -     -     -     -     -     -     -     -                 -                             -     -         
    SP5:                                                                                                                                                            

    ExUns: 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
    SP1:                                                                                    
    SP2:                                                                                    
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                              -                     

    About this scheme

    ECgene alternative splicing isoforms for EPB49

    4 Ensembl transcripts including schematic representations:
    ENST00000265800  ENST00000381455  ENST00000381470  ENST00000358242  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    EPB49 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for EPB49

    1 / 2 / 3

    4 probe-sets matching EPB49 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    37192_at2, 3 U95-A 1 1.00 1.00 0.96 0.91 U28389 1.00 1.00 1.00 1

    75162_r_at2, 3 U95-D 2 0.44 0.88 0.93 1.10 AI673236 0.40 1.00 0.76 1

    204505_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001978 0.60 1.00 0.82 1

    204505_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.106124

    Expression variation in blood from EXPOLDB for EPB49

    UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495
    Tissue specificity: Heart, brain, lung, skeletal muscle, and kidney

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for EPB49 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    EPB491   -- erythrocyte membrane protein band 4.9 (dematin) 90.89(n)
    96.49(a)
    486132  XM_543258.2  XP_543258.2 
    chimpanzee
    (Pan troglodytes)
    EPB491   -- erythrocyte membrane protein band 4.9 (dematin) 99.51(n)
    99.51(a)
    741796  XM_001152704.1  XP_001152704.1 
    rat
    (Rattus norvegicus)
    Epb4.91   -- erythrocyte protein band 4.9 88.2(n)
    94.32(a)
    361069  XM_341352.3  XP_341353.3 
    mouse
    (Mus musculus)
    Epb4.91, 5 14 (38.00 cM)5
    erythrocyte protein band 4.91, 5 89.12(n)1
    95.56(a)1
    138291  NM_013514.31  NP_038542.11 
     AF0798465  AF1555475  (see all 19)
    zebrafish
    (Danio rerio)
    wufj78f012   -- Transcribed sequence with weak similarity to protein more 75.57(n)  CD598541.1 
    About this table        Species with no ortholog for EPB49

    ENSEMBL Gene Tree for EPB49
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for EPB49 gene
    ABLIM32  ABLIM22  ABLIM12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/212 NCBI SNPs in EPB49 are shown (see all 212 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 49)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 8 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs65577821,2
    A,C,F,H21995381(+) GCAGCT/CTCCTG 6 -- ut31 ese34Minor allele frequency- C:0.21EU EA WA 412
    rs125411261,2
    C,F,H21967177(+) AGGAAT/CCCTGG 1 -- ut51 ese38Minor allele frequency- C:0.21EU EA WA 838
    rs10634431,2
    C,F,H21995876(+) CAGGTC/TTGGGT 6 -- ut315Minor allele frequency- T:0.02MN EU EA WA 602
    --
    rs96572871,2
    A,C21980243(+) CGCAGC/TGCCCA 4 -- ut51 ese30--------
    rs119944421,2
    F,H21972678(+) aagcaG/Aaaaga 2 -- ut514Minor allele frequency- A:0.02EU EA WA 420
    rs78364931,2
    A,C21996377(+) GGTGCC/TCATGG 1 -- ng310--------
    --
    rs78460661,2
    C,F21996398(+) AGGCCA/GAACAC 1 -- ng313Minor allele frequency- G:0.25NA EA 272
    rs18722241,2
    A,C21996067(+) AGGGTG/TCCAAT 1 -- ng310--------
    rs37394331,2
    H21972582(+) ACTGCG/AGGGGT 1 -- ng514Minor allele frequency- A:0.00EU EA WA 418
    rs38086511,2
    H21971609(-) CAGGAC/TGCATG 1 -- ng515Minor allele frequency- T:0.00EA EU WA 1914
    About this table

    HapMap Linkage Disequilibrium images for EPB49 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 125305

    3 Novoseek disease relationships for EPB49 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    spherocytosis hereditary 73.71 1 7615546 (1)
    anemia hemolytic 43.79 1 7615546 (1)
    prostate cancer 7.70 2 10565303 (2)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/29 PubMed articles for EPB49 gene (see all 29 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 2039 HGNC: 3382 AceView: EPB49 Ensembl:ENSG00000158856 euGenes: HUgn2039
    ECgene: EPB49 H-InvDB: EPB49
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for EPB49 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for EPB49:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for EPB49 Antibodies for EPB49
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for EPB49 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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