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Aliases & Descriptions for EPB49
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for EPB49 genePrevious GC identifers: GC08P021672 GC08P022265 GC08P021727 GC08P021937 GC08P021938
Summaries for EPB49 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for EPB49 : Dematin, or EPB49, is an actin-bundling protein originally identified in the erythroid membraneskeleton. Its actin-bundling activity is abolished upon phosphorylation by cAMP-dependent proteinkinase and is restored after dephosphorylation (Rana et al., 1993 [PubMed 8341682]).[supplied byOMIM] UniProtKB/Swiss-Prot: DEMA_HUMAN, Q08495 Function : Actin-bundling protein. May function in mitogen-activated protein kinase pathway
Gene Wiki entry for EPB49
Genomic Location for EPB49
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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Transcription factor binding sites according to
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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 Proteins for EPB49
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 ,
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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 )
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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 bydisulfide bonds (Probable). Interacts with RASGRF2
Subcellular location : Cytoplasm
PDB structure from and Proteopedia : 1QZP (3D)
 1ZV6 (3D)
 
Secondary accessions : A8K0T5 B3KP70 Q13215 Q9BRE3Alternative 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 PhosphoSite 2
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 Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for EPB49: Assays for EPB49:
Protein
Domains/ Families for EPB49(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 theamino-terminal portion Domain : Consists of a large core fragment, the amino-terminal portion, and a small headpiece, theC-terminal portion. The headpiece can bind but cannot bundle actin filaments Similarity : Belongs to the villin/gelsolin familySimilarity : Contains 1 HP (headpiece) domain
Gene Function for EPB49
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
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RNAi Products ,
Clones , and
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               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                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,villinfamily,including two isoforms in the brain
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Epb4.9) :1 Gene Ontology (GO) molecular function term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0003779 actin binding
IEA --
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Pathways & Interactions for EPB49
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/18 Interacting proteins for EPB49 (ENSP00000370864 3 Q08495 2 ) via UniProtKB, MINT, and/or STRING (see all 18
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for EPB49 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
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PharmGKB )
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Transcripts 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
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exon structure from GeneLoc ,
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               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
Expression for EPB49
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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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 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 for EPB49
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for EPB49 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for EPB49 ENSEMBL Gene Tree for EPB49 Paralogs for EPB49 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for EPB49 gene ABLIM3 2 ABLIM2 2 ABLIM1 2
SNPs/Variants for EPB49 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for EPB49 (up to first 250kb)
Disorders & Mutations for EPB49
(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 .)
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OMIM: 125305 3 Novoseek disease relationships for EPB49 gene
About this table
Medical News for EPB49 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for EPB49 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/29 PubMed articles for EPB49 gene (see all 29
): Cloning of human erythroid dematin reveals another member of the villin family. (PubMed id 8341682) 1, 2, 3, 4 Rana A.P.... Chishti A.H. (1993) Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily. (PubMed id 7615546) 1, 3, 4 Azim A.C.... Chishti A.H. (1995) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) Headpiece domain of dematin is required for the stability of the erythrocyte membrane. (PubMed id 12011427) 2, 3 Khanna R....Chishti A.H. (2002) Dematin interacts with the Ras-guanine nucleotide exchange factor Ras-GRF2 and modulates mitogen-activated protein kinase pathways. (PubMed id 11856323) 1, 4 Lutchman M.... Chishti A.H. (2002) The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site. (PubMed id 14660664) 1, 3 Frank B.S....McKnight C.J. (2004) Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins. (PubMed id 8608138) 1, 3 Azim A.C....Chishti A.H. (1996) Phosphorylation-induced changes in backbone dynamics of the dematin headpiece C-terminal domain. (PubMed id 19030997) 1, 3 Vugmeyster L. and McKnight C.J. (2009) Identification of the PXW sequence as a structural gatekeeper of the headpiece C-terminal subdomain fold. (PubMed id 16697408) 1, 3 Vermeulen W....Ampe C. (2006)
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Genome Databases showing EPB49
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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(According to HUGE )
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Specialized Databases showing EPB49 (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
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-- Services for EPB49 (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
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