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Aliases & Descriptions for EPB41
(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 4.1R 1 , 2 , 3 E41P 3 EL1 2 , 5 EPB4.1 3 HE 2 OTTHUMP00000003772 2 OTTHUMP00000003773 2 OTTHUMP00000003774 2 P4.1 3
Descriptions Band 4.1 3 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 2 erythrocyte surface protein band 4.1 2
Search outside databases for aliases for EPB41 genePrevious GC identifers: GC01P029320 GC01P028379 GC01P028718 GC01P029002 GC01P029003
Summaries for EPB41 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for EPB41 : Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and avariable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis resultsfrom mutation in any one of several genes encoding proteins of the red cell membrane skeleton. Theform discussed here is the one found in the 1950s to be linked to Rh blood group and more recentlyshown to be caused by a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis arecaused by mutation in the alpha-spectrin gene (MIM 182860), the beta-spectrin gene (MIM 182870),or the band 3 gene (MIM 109270).[supplied by OMIM] UniProtKB/Swiss-Prot: 41_HUMAN, P11171 Function : Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It playsa key role in regulating membrane physical properties of mechanical stability and deformability bystabilizing spectrin-actin interaction. Recruits DLG1 to membranes
Gene Wiki entry for EPB41 (Band_4.1)
Genomic Location for EPB41
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the EPB41 gene 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) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01P029034:
(about GC identifiers )
Start:
29,086,215 bp from pter
End:
29,319,545 bp from pter
Size:
233,331 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000001.9 NT_004610.18 Proteins for EPB41
(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 ,
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 )
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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 toassociate with contractile apparatus and tight junctions
Subcellular location : Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Nucleus
PDB structure from and Proteopedia : 1GG3 (3D)
 2RQ1 (3D)
 
Secondary accessions : B1ALH8 P11176 Q14245 Q5TB35 Q5VXN8 Q8IXV9 Q9Y578 Q9Y579Alternative splicing : 7 isoforms : P11171-1 P11171-2 P11171-3 P11171-4 P11171-5 P11171-6 P11171-7
Post-translational modifications:
Phosphorylated at multiple sites by different protein kinases and each phosphorylation eventselectively modulates the protein's functions1
Phosphorylation on Tyr-660 reduces the ability of 4.1 to promote the assembly of thespectrin/actin/4.1 ternary complex1
O-glycosylated; contains N-acetylglucosamine side chains in the C-terminal domain1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_004428.1 NP_976217.1 NP_976218.1 ENSEMBL proteins: ENSP00000351880 ENSP00000345259 ENSP00000362904 ENSP00000362903 ENSP00000362906 ENSP00000381828 ENSP00000317597 ENSP00000381841 ENSP00000348397 ENSP00000290100 ENSP00000381839 ENSP00000381837 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8
):
About this table Antibodies for EPB41: Assays for EPB41:
Protein
Domains/ Families for EPB41(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 P11171 ProtoNet protein and cluster: P11171
2 Blocks protein families : IPB000299 Band 4.1 domain IPB007477 SAB UniProtKB/Swiss-Prot: 41_HUMAN, P11171 Similarity : Contains 1 FERM domain
Gene Function for EPB41
(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 .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): BC039079 Applied Biosystems Silencer ® siRNAs for EPB41 Sigma-Aldrich siRNA and siRNA Panels for EPB41 Sigma-Aldrich shRNA Panels and shRNA for EPB41 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_004437                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_004437                                  untagged cDNA clones in CMV expression vector (see all 6 ): BC039079  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_203343 UniProtKB/Swiss-Prot: 41_HUMAN, P11171 Function : Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It playsa key role in regulating membrane physical properties of mechanical stability and deformability bystabilizing 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 developmentallyregulated erythroid and non erythroid expression pattern resulting from extensive alternative prem-RNA splicing,two possible initiation sites and post translational modification,located incytoplasm and/or nucleus in non erythroid cells,binding F-actin to spectrin dimers and crucial forthe maintenance of integral membrane red blood cell shape,ezrin/moesin/radixin-like (ERM) familymember, responding and participating in reorganization of membrane-cytoplasmic interactions
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Epb4.1) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for EPB41
(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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1 Sigma-Aldrich "Your Favorite Gene" Pathway for EPB41 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for EPB41 5/65 Interacting proteins for EPB41 (ENSP00000345259 3 P11171 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 65
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for EPB41 (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 )
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Browse Tocris compounds for EPB41 1 Novoseek chemical compound relationship for EPB41 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
calcium
0.00
5
11224681 (1), 11017195 (1)
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Transcripts for EPB41(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
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): BC039079 Sigma-Aldrich siRNA and siRNA Panels for EPB41 Sigma-Aldrich shRNA Panels and shRNA for EPB41 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_004437 NM_203342 NM_203343
REFSEQ mRNAs for EPB41 gene (3 alternative transcripts): NM_004437.2 NM_203342.1 NM_203343.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004437 NM_203342 NM_203343
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_004437                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_004437                                  untagged cDNA clones in CMV expression vector (see all 6 ): BC039079  
Additional cDNA 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 CR601097.1 CR622465.1 J03796.1 M14993.1 M61733.1
17 DOTS entries : DT.100827927 DT.444098 DT.99939612 DT.91996271 DT.100718032 DT.100827925 DT.100827922 DT.100827924 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
):BM454463 BU159552 BC009063 BU164992 BU663983 BG943340 BC039079 BM704269 AI241891 BF476313 CR622465 BM465039 J03796 AL520065 AI638770 BX952914 BP364691 AI400417 CR601097 CF136825 BQ424914 AI656046 CB158940 AA342636
highest scoring ESTs for EPB41 :J03796 M61733 AA459496 AL520065 AW968474 BE257308 BF901970 BG249428 BG764441 BM452936
Unigene Cluster for EPB41: Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) Hs.175437 [show with all ESTs ] Unigene Representative Sequence: NM_203342 GeneLoc Exon Structure 5/12 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41 (see all 12
) 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 : -   -   -   -   -                
About this scheme ECgene alternative splicing isoforms for EPB41 12 Ensembl transcripts including schematic representations : ENST00000358989
ENST00000343067
ENST00000373798
ENST00000373797
ENST00000373800
ENST00000398850
ENST00000349460
ENST00000398865
ENST00000356093
ENST00000347529
ENST00000398863
ENST00000398861
Expression for EPB41
(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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EPB41 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for EPB41 1 / 2 / 3
11 probe-sets matching EPB41 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGGCTTGGAGSOURCE GeneReport for Unigene cluster: Hs.175437 Expression variation in blood from EXPOLDB for EPB41
Orthologs for EPB41
(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 EPB41 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for EPB41 ENSEMBL Gene Tree for EPB41 Paralogs for EPB41 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for EPB41 gene EPB41L3 2 EPB41L2 2
SNPs/Variants for EPB41 (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 EPB41 (up to first 250kb)
Disorders & Mutations for EPB41
(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: 130500 disorders : 611804 UniProtKB/Swiss-Prot: 41_HUMAN, P11171
Defects in EPB41 are the cause of elliptocytosis type 1 (EL1) [MIM:611804]. EL1 is aRhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant,hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval redcell shape Defects in EPB41 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:266140]. HPP isan autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis,poikilocytosis, and an unusual thermal sensitivity of red cells
2 Novoseek disease relationships for EPB41 gene
About this table Human Gene Mutation Database : EPB41
Medical News for EPB41 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for EPB41 (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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10/105 PubMed articles for EPB41 gene (see all 105
): An alternative domain containing a leucine-rich sequence regulates nuclear cytoplasmic localization of protein 4.1R. (PubMed id 12427749) 1, 3, 4 Luque C.M.... Correas I. (2003) Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization. (PubMed id 11017195) 1, 3, 4 Han B.-G.... Jap B.K. (2000) The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414) 3, 4 Gregory S.G.... Bentley D.R. (2006) Mitotic regulation of protein 4.1R involves phosphorylation by cdc2 kinase. (PubMed id 15525677) 3, 4 Huang S.-C.... Benz E.J. Jr. (2005) 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) Properties of the C-terminal domain of 4.1 proteins. (PubMed id 11432737) 3, 4 Scott C.... Baines A.J. (2001) Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex. (PubMed id 11003675) 3, 4 Hung L.-Y.... Tang T.K. (2000) 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) 3, 4 Nunomura W.... Mohandas N. (2000) Cloning and characterization of hdlg: the human homologue of the Drosophila discs large tumor suppressor binds to protein 4.1. (PubMed id 7937897) 3, 4 Lue R.A.... Chishti A.H. (1994) Phosphorylation of protein 4.1 on tyrosine-418 modulates its function in vitro. (PubMed id 1647028) 3, 4 Subrahmanyan G.... Anderson R.A. (1991)
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Genome Databases showing EPB41
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing EPB41
(According to HUGE )
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Specialized Databases showing EPB41 (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 EPB41 (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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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009