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EPB41 (erythrocyte membrane protein band 4.1)

Identity

Alias (NCBI)4.1R
EL1
HE
HGNC (Hugo) EPB41
HGNC Alias symb4.1R
HGNC Previous nameEL1
HGNC Previous nameelliptocytosis 1, RH-linked
LocusID (NCBI) 2035
Atlas_Id 46379
Location 1p35.3  [Link to chromosome band 1p35]
Location_base_pair Starts at 28887100 and ends at 29120041 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EPB41 (1p35.3) / EPB41 (1p35.3)EPB41 (1p35.3) / ITM2B (13q14.2)EPB41 (1p35.3) / ITPR1 (3p26.1)
EPB41 (1p35.3) / PIGV (1p36.11)EPB41 (1p35.3) / PRG2 (11q12.1)FKBP15 (9q32) / EPB41 (1p35.3)
KIAA1715 (2q31.1) / EPB41 (1p35.3)RPA2 (1p35.3) / EPB41 (1p35.3)SIPA1L1 (14q24.2) / EPB41 (1p35.3)
SIX2 (2p21) / EPB41 (1p35.3)SNRNP40 (1p35.2) / EPB41 (1p35.3)EPB41 1p35.3 / ITPR1 3p26.1
EPB41 1p35.3 / PIGV 1p36.11SNRNP40 1p35.2 / EPB41 1p35.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  SNRNP40/EPB41 (1p35)
t(1;1)(p35;p36) EPB41/PIGV
t(1;3)(p35;p26) EPB41/ITPR1


External links

Nomenclature
HGNC (Hugo)EPB41   3377
Cards
Entrez_Gene (NCBI)EPB41  2035  erythrocyte membrane protein band 4.1
Aliases4.1R; EL1; HE
GeneCards (Weizmann)EPB41
Ensembl hg19 (Hinxton)ENSG00000159023 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159023 [Gene_View]  ENSG00000159023 [Sequence]  chr1:28887100-29120041 [Contig_View]  EPB41 [Vega]
ICGC DataPortalENSG00000159023
TCGA cBioPortalEPB41
AceView (NCBI)EPB41
Genatlas (Paris)EPB41
WikiGenes2035
SOURCE (Princeton)EPB41
Genetics Home Reference (NIH)EPB41
Genomic and cartography
GoldenPath hg38 (UCSC)EPB41  -     chr1:28887100-29120041 +  1p35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EPB41  -     1p35.3   [Description]    (hg19-Feb_2009)
GoldenPathEPB41 - 1p35.3 [CytoView hg19]  EPB41 - 1p35.3 [CytoView hg38]
ImmunoBaseENSG00000159023
genome Data Viewer NCBIEPB41 [Mapview hg19]  
OMIM130500   611804   
Gene and transcription
Genbank (Entrez)AB209649 AF156225 AI076831 AI819579 AK299093
RefSeq transcript (Entrez)NM_001166005 NM_001166006 NM_001166007 NM_001376013 NM_001376014 NM_001376015 NM_001376016 NM_001376017 NM_001376018 NM_001376019 NM_001376020 NM_001376021 NM_001376022 NM_001376023 NM_001376024 NM_001376025 NM_001376026 NM_001376027 NM_001376028 NM_004437 NM_203342 NM_203343
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPB41
Alternative Splicing GalleryENSG00000159023
Gene ExpressionEPB41 [ NCBI-GEO ]   EPB41 [ EBI - ARRAY_EXPRESS ]   EPB41 [ SEEK ]   EPB41 [ MEM ]
Gene Expression Viewer (FireBrowse)EPB41 [ Firebrowse - Broad ]
GenevisibleExpression of EPB41 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2035
GTEX Portal (Tissue expression)EPB41
Human Protein AtlasENSG00000159023-EPB41 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11171   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11171  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11171
Splice isoforms : SwissVarP11171
PhosPhoSitePlusP11171
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_4.1_C    Band_41_domain    Band_41_protein_chordates    Ez/rad/moesin-like    FERM-adjacent    FERM/acyl-CoA-bd_prot_sf    FERM_2    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    PH-like_dom_sf    SAB_dom    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)4_1_CTD (PF05902)    FA (PF08736)    FERM_C (PF09380)    FERM_M (PF00373)    FERM_N (PF09379)    SAB (PF04382)   
Domain families : Pfam (NCBI)pfam05902    pfam08736    pfam09380    pfam00373    pfam09379    pfam04382   
Domain families : Smart (EMBL)B41 (SM00295)  FA (SM01195)  FERM_C (SM01196)  
Conserved Domain (NCBI)EPB41
DMDM Disease mutations2035
Blocks (Seattle)EPB41
PDB (RSDB)1GG3    2RQ1    3QIJ   
PDB Europe1GG3    2RQ1    3QIJ   
PDB (PDBSum)1GG3    2RQ1    3QIJ   
PDB (IMB)1GG3    2RQ1    3QIJ   
Structural Biology KnowledgeBase1GG3    2RQ1    3QIJ   
SCOP (Structural Classification of Proteins)1GG3    2RQ1    3QIJ   
CATH (Classification of proteins structures)1GG3    2RQ1    3QIJ   
SuperfamilyP11171
Human Protein Atlas [tissue]ENSG00000159023-EPB41 [tissue]
Peptide AtlasP11171
HPRD00558
IPIIPI00003921   IPI00218697   IPI00218698   IPI00218699   IPI00218700   IPI00218701   IPI00979898   IPI00739613   IPI00791144   IPI01013487   IPI00553103   
Protein Interaction databases
DIP (DOE-UCLA)P11171
IntAct (EBI)P11171
FunCoupENSG00000159023
BioGRIDEPB41
STRING (EMBL)EPB41
ZODIACEPB41
Ontologies - Pathways
QuickGOP11171
Ontology : AmiGOactin binding  structural constituent of cytoskeleton  protein binding  calmodulin binding  1-phosphatidylinositol binding  cytosol  cytosol  cytoskeleton  plasma membrane  plasma membrane  plasma membrane  cell cycle  protein C-terminus binding  regulation of cell shape  cytoplasmic side of plasma membrane  postsynaptic density  spectrin-associated cytoskeleton  basolateral plasma membrane  nuclear body  actin cytoskeleton organization  cell junction  spectrin binding  cortical cytoskeleton  cortical actin cytoskeleton organization  actomyosin structure organization  positive regulation of protein binding  protein-containing complex  protein-containing complex  intercellular bridge  protein N-terminus binding  phosphoprotein binding  cell division  regulation of calcium ion transport  protein-containing complex assembly  mitotic spindle  cell cortex region  regulation of intestinal absorption  positive regulation of protein localization to cell cortex  
Ontology : EGO-EBIactin binding  structural constituent of cytoskeleton  protein binding  calmodulin binding  1-phosphatidylinositol binding  cytosol  cytosol  cytoskeleton  plasma membrane  plasma membrane  plasma membrane  cell cycle  protein C-terminus binding  regulation of cell shape  cytoplasmic side of plasma membrane  postsynaptic density  spectrin-associated cytoskeleton  basolateral plasma membrane  nuclear body  actin cytoskeleton organization  cell junction  spectrin binding  cortical cytoskeleton  cortical actin cytoskeleton organization  actomyosin structure organization  positive regulation of protein binding  protein-containing complex  protein-containing complex  intercellular bridge  protein N-terminus binding  phosphoprotein binding  cell division  regulation of calcium ion transport  protein-containing complex assembly  mitotic spindle  cell cortex region  regulation of intestinal absorption  positive regulation of protein localization to cell cortex  
Pathways : KEGGTight junction   
NDEx NetworkEPB41
Atlas of Cancer Signalling NetworkEPB41
Wikipedia pathwaysEPB41
Orthology - Evolution
OrthoDB2035
GeneTree (enSembl)ENSG00000159023
Phylogenetic Trees/Animal Genes : TreeFamEPB41
HOGENOMP11171
Homologs : HomoloGeneEPB41
Homology/Alignments : Family Browser (UCSC)EPB41
Gene fusions - Rearrangements
Fusion : MitelmanEPB41/ITPR1 [1p35.3/3p26.1]  
Fusion : MitelmanEPB41/PIGV [1p35.3/1p36.11]  
Fusion : MitelmanSNRNP40/EPB41 [1p35.2/1p35.3]  
Fusion PortalEPB41 1p35.3 ITPR1 3p26.1 SKCM
Fusion PortalEPB41 1p35.3 PIGV 1p36.11 BLCA
Fusion PortalSNRNP40 1p35.2 EPB41 1p35.3 HNSC
Fusion : QuiverEPB41
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB41 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB41
dbVarEPB41
ClinVarEPB41
MonarchEPB41
1000_GenomesEPB41 
Exome Variant ServerEPB41
GNOMAD BrowserENSG00000159023
Varsome BrowserEPB41
Genetic variants : HAPMAP2035
Genomic Variants (DGV)EPB41 [DGVbeta]
DECIPHEREPB41 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEPB41 
Mutations
ICGC Data PortalEPB41 
TCGA Data PortalEPB41 
Broad Tumor PortalEPB41
OASIS PortalEPB41 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPB41  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEPB41
Mutations and Diseases : HGMDEPB41
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EPB41
DgiDB (Drug Gene Interaction Database)EPB41
DoCM (Curated mutations)EPB41 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPB41 (select a term)
intoGenEPB41
Cancer3DEPB41(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130500    611804   
Orphanet3655   
DisGeNETEPB41
MedgenEPB41
Genetic Testing Registry EPB41
NextProtP11171 [Medical]
TSGene2035
GENETestsEPB41
Target ValidationEPB41
Huge Navigator EPB41 [HugePedia]
snp3D : Map Gene to Disease2035
BioCentury BCIQEPB41
ClinGenEPB41
Clinical trials, drugs, therapy
Protein Interactions : CTD2035
Pharm GKB GenePA27810
Clinical trialEPB41
Miscellaneous
canSAR (ICR)EPB41 (select the gene name)
HarmonizomeEPB41
DataMed IndexEPB41
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPB41
EVEXEPB41
GoPubMedEPB41
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:10:14 CEST 2020

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