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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EPB41L4A Gene

protein-coding   GIFtS: 48
GCID: GC05M111478

erythrocyte membrane protein band 4.1 like 4A
 Explore 2 diseases affiliated with
EPB41L4A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for EPB41L4A    

Aliases
for EPB41L4A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Erythrocyte Membrane Protein Band 4.1 Like 4A1 2
NBL41 2 5
EPB41L42 3 5
Band 4.1-Like Protein 4A2
Erythrocyte Protein Band 4.1-Like 42
Protein NBL43

External Ids:    HGNC: 132781   Entrez Gene: 640972   Ensembl: ENSG000001295957   OMIM: 6121415   UniProtKB: Q9HCS53   

Export aliases for EPB41L4A gene to outside databases

Previous GC identifers: GC05M111923 GC05M111509 GC05M111555 GC05M111576 GC05M111507 GC05M106677


Summaries
for EPB41L4A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for EPB41L4A:
Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the
cytoskeleton and plasma membrane (Ishiguro et al., 2000 (PubMed 10874211)).(supplied by OMIM, Jul 2008)




Genomic Views
for EPB41L4A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB41L4A gene promoter:
         Max1   USF1   AP-1   Sp1   STAT5A   HNF-3beta   USF-1   Zic3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EPB41L4A promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB41L4A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L4A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q21.3   Ensembl cytogenetic band:  5q22.2   HGNC cytogenetic band: 5q21.3

EPB41L4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L4A gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M111478:  view genomic region     (about GC identifiers)

Start:
 111,478,138 bp from pter      End:
 111,755,013 bp from pter
Size:
 276,876 bases      Orientation:
 minus strand

Proteins
for EPB41L4A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: E41LA_HUMAN, Q9HCS5 (See protein sequence)
Recommended Name: Band 4.1-like protein 4A  
Size: 686 amino acids; 79059 Da
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
Secondary accessions: A4FUI6

Explore the universe of human proteins at neXtProt for EPB41L4A: NX_Q9HCS5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCS5

    • EPB41L4A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071423.3  
    ENSEMBL proteins: 
     ENSP00000261486  

    Human Recombinant Protein Products: 
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    Novus Biologicals EPB41L4A Protein
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    Uscn Proteins for EPB41L4A

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0019898extrinsic to membrane IEA--


    EPB41L4A for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for EPB41L4A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    EPB41L4A for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR019748 FERM_central
     IPR018980 FERM_PH-like_C
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin
     IPR019749 Band_41_domain

    Graphical View of Domain Structure for InterPro Entry Q9HCS5

    ProtoNet protein and cluster: Q9HCS5

    1 Blocks protein family: IPB000299 Band 4.1 domain

    UniProtKB/Swiss-Prot: E41LA_HUMAN, Q9HCS5
    Similarity: Contains 1 FERM domain


    Function
    for EPB41L4A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L4A (see all 14):
    hsa-miR-607 hsa-miR-92a hsa-miR-657 hsa-miR-513a-5p hsa-miR-27a hsa-miR-367 hsa-miR-25 hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmid: EPB41L4A 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008092cytoskeletal protein binding IEA--


    EPB41L4A for ontologies           About GeneDecksing



    Pathways & Interactions
    for EPB41L4A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EPB41L4A

    1 Interacting protein for EPB41L4A (Q9HCS53) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DVL2O146413I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    EPB41L4A for ontologies           About GeneDecksing



    Drugs & Compounds
    for EPB41L4A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for EPB41L4A
    Search CenterWatch for drugs/clinical trials and news about EPB41L4A / E41LA 

    Transcripts
    for EPB41L4A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for EPB41L4A gene: 
    NM_022140.3  

    Unigene Cluster for EPB41L4A:

    Erythrocyte membrane protein band 4.1 like 4A
    Hs.584954  [show with all ESTs]
    Unigene Representative Sequence: NM_022140
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507810(uc003kpp.1) ENST00000261486(uc003kpu.1 uc003kpv.1)
    ENST00000509342 ENST00000515047 ENST00000513333 ENST00000511790 ENST00000511405
    ENST00000512395 ENST00000305368(uc003kpw.1) ENST00000514203

    miRNA
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate EPB41L4A (see all 14):
    hsa-miR-607 hsa-miR-92a hsa-miR-657 hsa-miR-513a-5p hsa-miR-27a hsa-miR-367 hsa-miR-25 hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmid: EPB41L4A 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EPB41L4A (see all 4)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EPB41L4A
    Clone
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    Primer
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    Additional cDNA sequence: 

    AK021578.1 AK096057.1 AK123285.1 BC015441.1 BC031042.1 BC114632.1 BC114942.1 

    11 DOTS entries:

    DT.304381  DT.40118882  DT.429828  DT.101955173  DT.92417897  DT.97800961  DT.99995284  DT.120853750 
    DT.120853753  DT.70102587  DT.91693050 

    24/47 AceView cDNA sequences (see all 47):

    AK123285 AI635956 AA350574 BF732639 CB048933 AI469365 BX109898 T81093 
    AI244275 NM_022140 AA970609 BC031042 BI764129 AW271256 AI816831 BI464291 
    BF116155 T89355 AK096057 CD631233 AW183551 AI811326 BX485149 CD631231 

    GeneLoc Exon Structure


    Expression
    for EPB41L4A gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EPB41L4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTTATCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    EPB41L4A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerGABAergic Amacrine CellsAmacrine, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Posterior foregut-like cells (A scalable, suspensi...)

    See EPB41L4A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB41L4A

    SOURCE GeneReport for Unigene cluster: Hs.584954

    UniProtKB/Swiss-Prot: E41LA_HUMAN, Q9HCS5
    Tissue specificity: Expressed in many tissues. High levels of expression in brain, liver, thymus and peripheral blood
    leukocytes and low levels of expression in heart, kidney, testis and colon

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    In Situ
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    Orthologs
    for EPB41L4A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for EPB41L4A gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Epb4.1l4a1 , 5 erythrocyte protein band 4.1-like 4a1, 5 87.07(n)1
    93.29(a)1    		   18 (18.19 cM)5
    138241  NM_013512.21  NP_038540.21 
     337963275 
    chicken
    (Gallus gallus)    		 Aves EPB41L4A1 erythrocyte membrane protein band 4.1 like 4A 79.87(n)
    87.04(a)    		   415608  XM_413976.3  XP_413976.3 
    lizard
    (Anolis carolinensis)    		 Reptilia EPB41L4A6
    		 --
    		 83(a)
    		 1 ↔ 1
    		 GL343193.1(6676304-6736445)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.28822 Xenopus laevis transcribed sequence with moderate similarity more 79.6(n)    BU905226.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii epb4.1l42 erythrocyte protein band 4.1-like 4 74.54(n)   30470  BC060893.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG343471 CG34347 47.04(n)
    40.61(a)    		   5740668  NM_001104519.2  NP_001097989.2 


    ENSEMBL Gene Tree for EPB41L4A (if available)
    TreeFam Gene Tree for EPB41L4A (if available) 

    Paralogs
    for EPB41L4A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41L4A gene
    EPB412  EPB41L52  FRMD32  EPB41L12  EPB41L4B2  FARP12  FRMD52  MYLIP2  
    EPB41L32  FRMD72  FARP22  EPB41L22  
    18/19 SIMAP similar genes for EPB41L4A using alignment to 3 protein entries:     E41LA_HUMAN (see all proteins) (see all similar genes):
    PTPN3    PTPN4    EPB41L4B    EPB41L1    FRMD5    EPB41
    PTPN21    EPB41L3    EPB41L5    FRMD7    FRMD3    EPB41L2
    FARP1    EZR    EZR-ROS1    FARP2    PTPN14    RDX

    EPB41L4A for paralogs           About GeneDecksing



    Genomic Variants
    for EPB41L4A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5007 NCBI SNPs in EPB41L4A are shown (see all 5007)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1468272921,2
    		--111497946(+) TACCTC/GCTGGA 2 -- ds5001 nc-transcript-variant0--------
    rs1906902441,2
    		--111497956(+) AGTCTG/TTAAAT 2 -- ds5001 nc-transcript-variant0--------
    rs1841824731,2
    		--111497957(+) GTCTGC/TAAATA 2 -- ds5001 nc-transcript-variant0--------
    rs750989311,2
    		F,--111498031(+) TGATTA/GACTGC 2 -- nc-transcript-variantds50011Minor allele frequency- G:0.15WA 118
    rs1392158861,2
    		--111498112(+) CCATAA/GTTAAT 2 -- ds5001 nc-transcript-variant0--------
    rs1433319861,2
    		--111498245(+) TTTTTA/CCTCCA 2 -- ds50010--------
    rs1864080511,2
    		--111498276(+) TTGCCA/GTATCT 2 -- ds50010--------
    rs796589251,2
    		F,--111498279(+) CCATAT/GCTTCT 2 -- ds50011Minor allele frequency- G:0.12WA 118
    rs1906500761,2
    		--111498341(+) TTATTA/GAAAGC 2 -- ut31 ds50010--------
    rs1448162541,2
    		--111498376(+) ATGATA/GAGCAC 2 -- ut31 ds50010--------

    HapMap Linkage Disequilibrium report for EPB41L4A (111478138 - 111728138 bp, first 250kb of EPB41L4A)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for EPB41L4A
         2 Indels: 60547 10774

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for EPB41L4A

    Disorders / Diseases
    for EPB41L4A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    EPB41L4A for disorders           About GeneDecksing

    OMIM gene information: 612141    OMIM disorders: --

    2 diseases for EPB41L4A:    About MalaCards
    teratocarcinoma    melanoma

    1 disease from the University of Copenhagen DISEASES database for EPB41L4A:
    Teratocarcinoma
    Human Genome Epidemiology (HuGE) Navigator: EPB41L4A (1 document)

    Export disorders for EPB41L4A gene to outside databases

    Publications
    for EPB41L4A gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EPB41L4A gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with EPB41L4A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of human NBL4, a gene involved in the beta-catenin/tcf signaling pathway. (PubMed id 10874211)1, 2, 3 Ishiguro H....Nakamura Y. (2000)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    3. Combined analysis of three genome-wide association st udies on vWF and FVIII plasma levels. (PubMed id 21810271)1 Antoni G....Tregouet D.A. (2011)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Molecular cloning of a novel NF2/ERM/4.1 superfamily gene, Ehm2, that is expressed in high-metastatic K1735 murine melanoma cells. (PubMed id 10783258)1 Shimizu K....Yokota J. (2000)

    External Searches for EPB41L4A gene

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    Genome Databases showing EPB41L4A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64097 HGNC: 13278 AceView: EPB41L4A Ensembl:ENSG00000129595 euGenes: HUgn64097
    ECgene: EPB41L4A H-InvDB: EPB41L4A

    Other Databases showing EPB41L4A gene

    (According to HUGE)
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    Specialized Databases showing EPB41L4A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EPB41L4A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for EPB41L4A gene

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    		Patent Information for EPB41L4A gene:
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