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EPB41L1 (erythrocyte membrane protein band 4.1 like 1)

Identity

Alias_symbol (synonym)KIAA0338
4.1N
Other aliasMRD11
HGNC (Hugo) EPB41L1
LocusID (NCBI) 2036
Atlas_Id 56614
Location 20q11.23  [Link to chromosome band 20q11]
Location_base_pair Starts at 34680632 and ends at 34820721 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARIH1 (15q24.1) / EPB41L1 (20q11.23)EPB41L1 (20q11.23) / BCL2A1 (15q25.1)EPB41L1 (20q11.23) / FIP1L1 (4q12)
EPB41L1 (20q11.23) / GHRH (20q11.23)EPB41L1 (20q11.23) / GSTM2 (1p13.3)EPB41L1 (20q11.23) / PHF20 (20q11.22)
EPB41L1 (20q11.23) / TGM3 (20p13)HNRNPA2B1 (7p15.2) / EPB41L1 (20q11.23)RALGAPB (20q11.23) / EPB41L1 (20q11.23)
RPL28 (19q13.42) / EPB41L1 (20q11.23)

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

 


External links

Nomenclature
HGNC (Hugo)EPB41L1   3378
Cards
Entrez_Gene (NCBI)EPB41L1  2036  erythrocyte membrane protein band 4.1 like 1
Aliases4.1N; MRD11
GeneCards (Weizmann)EPB41L1
Ensembl hg19 (Hinxton)ENSG00000088367 [Gene_View]  chr20:34680632-34820721 [Contig_View]  EPB41L1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000088367 [Gene_View]  chr20:34680632-34820721 [Contig_View]  EPB41L1 [Vega]
ICGC DataPortalENSG00000088367
TCGA cBioPortalEPB41L1
AceView (NCBI)EPB41L1
Genatlas (Paris)EPB41L1
WikiGenes2036
SOURCE (Princeton)EPB41L1
Genetics Home Reference (NIH)EPB41L1
Genomic and cartography
GoldenPath hg19 (UCSC)EPB41L1  -     chr20:34680632-34820721 +  20q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EPB41L1  -     20q11.23   [Description]    (hg38-Dec_2013)
EnsemblEPB41L1 - 20q11.23 [CytoView hg19]  EPB41L1 - 20q11.23 [CytoView hg38]
Mapping of homologs : NCBIEPB41L1 [Mapview hg19]  EPB41L1 [Mapview hg38]
OMIM602879   614257   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001258329 NM_001258330 NM_001258331 NM_012156 NM_177996
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EPB41L1
Cluster EST : UnigeneHs.437422 [ NCBI ]
CGAP (NCI)Hs.437422
Alternative Splicing GalleryENSG00000088367
Gene ExpressionEPB41L1 [ NCBI-GEO ]   EPB41L1 [ EBI - ARRAY_EXPRESS ]   EPB41L1 [ SEEK ]   EPB41L1 [ MEM ]
Gene Expression Viewer (FireBrowse)EPB41L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2036
GTEX Portal (Tissue expression)EPB41L1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4G0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4G0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4G0
Splice isoforms : SwissVarQ9H4G0
PhosPhoSitePlusQ9H4G0
Domaine pattern : Prosite (Expaxy)FERM_1 (PS00660)    FERM_2 (PS00661)    FERM_3 (PS50057)   
Domains : Interpro (EBI)Band_4.1_C    Band_41_domain    Ez/rad/moesin-like    FERM-adjacent    FERM/acyl-CoA-bd_prot_3-hlx    FERM_central    FERM_CS    FERM_domain    FERM_N    FERM_PH-like_C    PH_dom-like    SAB_dom    Ubiquitin-rel_dom   
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)EPB41L1
DMDM Disease mutations2036
Blocks (Seattle)EPB41L1
SuperfamilyQ9H4G0
Human Protein AtlasENSG00000088367
Peptide AtlasQ9H4G0
HPRD04193
IPIIPI00024062   IPI00645410   IPI00646098   IPI00256095   IPI00384975   IPI00640846   IPI00647602   IPI00646198   IPI00641968   IPI00642786   IPI00642915   IPI00644651   IPI00607638   IPI00647777   IPI00646661   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4G0
IntAct (EBI)Q9H4G0
FunCoupENSG00000088367
BioGRIDEPB41L1
STRING (EMBL)EPB41L1
ZODIACEPB41L1
Ontologies - Pathways
QuickGOQ9H4G0
Ontology : AmiGOactin binding  structural constituent of cytoskeleton  cytosol  cytoskeleton  plasma membrane  cell-cell adherens junction  extrinsic component of membrane  cortical actin cytoskeleton organization  actomyosin structure organization  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
Ontology : EGO-EBIactin binding  structural constituent of cytoskeleton  cytosol  cytoskeleton  plasma membrane  cell-cell adherens junction  extrinsic component of membrane  cortical actin cytoskeleton organization  actomyosin structure organization  cell-cell adhesion  cadherin binding involved in cell-cell adhesion  
Pathways : KEGGTight junction   
NDEx NetworkEPB41L1
Atlas of Cancer Signalling NetworkEPB41L1
Wikipedia pathwaysEPB41L1
Orthology - Evolution
OrthoDB2036
GeneTree (enSembl)ENSG00000088367
Phylogenetic Trees/Animal Genes : TreeFamEPB41L1
HOVERGENQ9H4G0
HOGENOMQ9H4G0
Homologs : HomoloGeneEPB41L1
Homology/Alignments : Family Browser (UCSC)EPB41L1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEPB41L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EPB41L1
dbVarEPB41L1
ClinVarEPB41L1
1000_GenomesEPB41L1 
Exome Variant ServerEPB41L1
ExAC (Exome Aggregation Consortium)EPB41L1 (select the gene name)
Genetic variants : HAPMAP2036
Genomic Variants (DGV)EPB41L1 [DGVbeta]
DECIPHER (Syndromes)20:34680632-34820721  ENSG00000088367
CONAN: Copy Number AnalysisEPB41L1 
Mutations
ICGC Data PortalEPB41L1 
TCGA Data PortalEPB41L1 
Broad Tumor PortalEPB41L1
OASIS PortalEPB41L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEPB41L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEPB41L1
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 EPB41L1
DgiDB (Drug Gene Interaction Database)EPB41L1
DoCM (Curated mutations)EPB41L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EPB41L1 (select a term)
intoGenEPB41L1
Cancer3DEPB41L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602879    614257   
Orphanet
MedgenEPB41L1
Genetic Testing Registry EPB41L1
NextProtQ9H4G0 [Medical]
TSGene2036
GENETestsEPB41L1
Huge Navigator EPB41L1 [HugePedia]
snp3D : Map Gene to Disease2036
BioCentury BCIQEPB41L1
ClinGenEPB41L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2036
Chemical/Pharm GKB GenePA27811
Clinical trialEPB41L1
Miscellaneous
canSAR (ICR)EPB41L1 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEPB41L1
EVEXEPB41L1
GoPubMedEPB41L1
iHOPEPB41L1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:04:46 CET 2017

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