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

EPB41L4A Gene

protein-coding   GIFtS: 50
GCID: GC05M111478

Erythrocyte Membrane Protein Band 4.1 Like 4A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Erythrocyte Membrane Protein Band 4.1 Like 4A1 2
EPB41L42 3 5
NBL42 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


(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 Gene:
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)

GeneCards Summary for EPB41L4A Gene: 
EPB41L4A (erythrocyte membrane protein band 4.1 like 4A) is a protein-coding gene. Diseases associated with EPB41L4A include teratocarcinoma, and melanoma. GO annotations related to this gene include cytoskeletal protein binding and molecular_function. An important paralog of this gene is EPB41L5.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
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 plasmidEPB41L4A 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for EPB41L4A at MOPED 

Post-translational modifications:

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

  • EPB41L4A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPB41L4A Protein Expression
    REFSEQ proteins: NP_071423.3  
    ENSEMBL proteins: 
     ENSP00000261486  

    Human Recombinant Protein Products for EPB41L4A: 
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    Cloud-Clone Corp. 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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR019748 FERM_central
     IPR018980 FERM_PH-like_C
     IPR019750 Band_41_fam
     IPR000798 Ez/rad/moesin_like
     IPR019749 Band_41_domain

    Graphical View of Domain Structure for InterPro Entry Q9HCS5

    ProtoNet protein and cluster: Q9HCS5

    1 Blocks protein domain: IPB000299 Band 4.1 domain

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


    EPB41L4A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         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


    Phenotypes:
         1 MGI phenotypic allele for Epb4.1l4a (no phenotypes)

    EPB41L4A for phenotypes           About GeneDecksing

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidEPB41L4A 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (E41LA)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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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    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 plasmidEPB41L4A 3' UTR sequence
    Inhib. RNA
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    Additional mRNA 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):

    AI635956 AA350574 AK123285 BF732639 AK096057 T81093 BX109898 AW271256 
    AI469365 AI244275 AA970609 AI816831 BF116155 BI764129 NM_022140 T89355 
    CB048933 BC031042 BI464291 AB030240 AW183551 T84121 CD631220 CD631231 

    GeneLoc Exon Structure


    (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)      EPB41L4A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTTATCTT
    EPB41L4A Expression
    About this image


    EPB41L4A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Inner Cell Mass (Early Embryonic Tissues)
             Sox17-GFP genetically modified stem cells

    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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    (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 6/13 species (see all 13)    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
    erythrocyte membrane protein band 4.1 like 4A
    85(a)
    1 ↔ 1
    GL343193.1(6676304-6790936)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41L4A gene
    EPB41L52  EPB412  FRMD32  EPB41L12  PTPN32  EPB41L4B2  FARP12  PTPN42  
    FRMD52  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    EPB41L2    FRMD3
    FARP1    EZR    EZR-ROS1    FARP2    PTPN14    RDX

    EPB41L4A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/5780 SNPs in EPB41L4A are shown (see all 5780)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505065671,2
    C--111498881(+) AATAAC/GATCGT 1 -- ut310--------
    rs1872364491,2
    --111498904(+) GACAGA/CGCCAA 1 -- ut310--------
    rs1928598851,2
    --111498941(+) CATAAC/GTGCTA 1 -- ut310--------
    rs125174001,2
    C,F,A,H--111499041(+) AGAAAC/TCCAAA 1 -- ut3121Minor allele frequency- T:0.39EA NA NS WA 2556
    rs1158305441,2
    C,F--111499046(+) CCCAAA/GTGGTC 1 -- ut311Minor allele frequency- G:0.02WA 118
    rs1432483971,2
    --111499099(+) TAAACC/TTTAAG 1 -- ut310--------
    rs1829060551,2
    --111499101(+) AACCTG/TAAGGC 1 -- ut310--------
    rs1392730021,2
    C--111499178(+) CCACTA/GATTAA 1 -- ut310--------
    rs1499599421,2
    C--111499245(+) GATTAC/TATTAA 1 -- ut310--------
    rs558124411,2
    C,F--111499270(+) GTCCTA/TAAAAT 1 -- ut314Minor allele frequency- T:0.18WA NA 242

    HapMap Linkage Disequilibrium report for EPB41L4A (111478138 - 111728138 bp, first 250kb of EPB41L4A)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for EPB41L4A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730600CNV Deletion23290073
    esv268133CNV Insertion20981092
    nsv437471CNV Loss16327808
    nsv519077CNV Loss19592680
    nsv519008CNV Loss19592680
    nsv882714CNV Loss21882294
    nsv462386CNV Gain19166990
    esv6662CNV Gain19470904
    esv274937CNV Gain+Loss21479260

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

    EPB41L4A for disorders           About GeneDecksing

    Genetic Association Database (GAD): EPB41L4A
    Human Genome Epidemiology (HuGE) Navigator: EPB41L4A (1 document)

    Export disorders for EPB41L4A gene to outside databases

    (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 14):
    (articles sorted by number of sources associating them with EPB41L4A)
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    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. Combined analysis of three genome-wide association st udies on vWF and FVIII plasma levels. (PubMed id 21810271)1, 4 Antoni G....Tregouet D.A. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. 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)
    6. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    9. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (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

    (According to HUGE)
    About This Section
      --

    (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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EPB41L4A gene:
    Search GeneIP for patents involving EPB41L4A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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