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

EPB41L1 Gene

protein-coding   GIFtS: 65
GCID: GC20P034679

Erythrocyte Membrane Protein Band 4.1-Like 1

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(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 11 2     Band 4.1-Like Protein 12
Neuronal Protein 4.12 3     Neuron-Type Nonerythroid Protein 4.12
4.1N2 3     KIAA03383
MRD112     

External Ids:    HGNC: 33781   Entrez Gene: 20362   Ensembl: ENSG000000883677   OMIM: 6028795   UniProtKB: Q9H4G03   

Export aliases for EPB41L1 gene to outside databases

Previous GC identifers: GC20P034501 GC20P035347 GC20P035394 GC20P035415 GC20P034142 GC20P031477


(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 EPB41L1 Gene:
Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the
erythrocyte cytoskeleton and the overlying plasma membrane. The protein encoded by this gene is a
neuronally-enriched protein that is structurally similar to EPB41. The encoded protein binds and stabilizes D2
and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

GeneCards Summary for EPB41L1 Gene: 
EPB41L1 (erythrocyte membrane protein band 4.1-like 1) is a protein-coding gene. Diseases associated with EPB41L1 include neuronitis, and intellectual disability, and among its related super-pathways are Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell and Trafficking of GluR2-containing AMPA receptors. GO annotations related to this gene include actin binding and structural molecule activity. An important paralog of this gene is EPB41L5.

UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0
Function: May function to confer stability and plasticity to neuronal membrane via multiple interactions,
including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate
kinases

Gene Wiki entry for EPB41L1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EPB41L1 gene promoter:
         SRF   USF1   RFX1   SRF (504 AA)   USF2   USF-1:USF-2   CUTL1   POU3F2   AREB6   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEPB41L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EPB41L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EPB41L1


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

Entrez Gene cytogenetic band: 20q11.2-q12   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.2-q12

EPB41L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EPB41L1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P034679:  view genomic region     (about GC identifiers)

Start:
34,679,426 bp from pter      End:
34,820,721 bp from pter
Size:
141,296 bases      Orientation:
plus 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: E41L1_HUMAN, Q9H4G0 (See protein sequence)
Recommended Name: Band 4.1-like protein 1  
Size: 881 amino acids; 98503 Da
Subunit: Interacts with AGAP2
Subcellular location: Cytoplasm, cytoskeleton
Sequence caution: Sequence=BAA20796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O15046 Q4VXM6 Q4VXM7 Q4VXM8 Q4VXN4 Q6ZT61 Q8IUU7 Q96CV5 Q96L65
Alternative splicing: 4 isoforms:  Q9H4G0-1   Q9H4G0-2   Q9H4G0-3   Q9H4G0-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EPB41L1: NX_Q9H4G0

Explore proteomics data for EPB41L1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H4G0

  • EPB41L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EPB41L1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001245258.1  NP_001245259.1  NP_001245260.1  NP_036288.2  NP_818932.1  

    ENSEMBL proteins: 
     ENSP00000202028   ENSP00000393106   ENSP00000385244   ENSP00000404341   ENSP00000363061  
     ENSP00000413262   ENSP00000396366   ENSP00000408877   ENSP00000363056   ENSP00000337168  
     ENSP00000363052   ENSP00000406464   ENSP00000388281   ENSP00000390262   ENSP00000363057  
     ENSP00000399214  
    Reactome Protein details: Q9H4G0
    Human Recombinant Protein Products for EPB41L1: 
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    Cloud-Clone Corp. Proteins for EPB41L1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane TAS--
    GO:0019898extrinsic to membrane IEA--

    EPB41L1 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
    5/14 InterPro protein domains (see all 14):
     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 Q9H4G0

    ProtoNet protein and cluster: Q9H4G0

    3 Blocks protein domains:
    IPB000299 Band 4.1 domain
    IPB000798 ERM family signature
    IPB007477 SAB


    UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0
    Similarity: Contains 1 FERM domain


    EPB41L1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: E41L1_HUMAN, Q9H4G0
    Function: May function to confer stability and plasticity to neuronal membrane via multiple interactions,
    including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate
    kinases

         Genatlas biochemistry entry for EPB41L1:
    erythrocyte surface protein 4.1-like 1,strongly expressed in the brain

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding ----
    GO:0008092cytoskeletal protein binding ----
         
    EPB41L1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EPB41L1:
     Decreased Salmonella enterica  

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Epb4.1l1):
     nervous system  no phenotypic analysis  normal 

    EPB41L1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Epb4.1l1Epb4.tm1.1Aliv for EPB41L1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EPB41L1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EPB41L1 
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    SwitchGear 3'UTR luciferase reporter plasmidEPB41L1 3' UTR sequence
    Inhib. RNA
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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

    SuperPaths for EPB41L1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    2Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity0.53
    Trafficking of AMPA receptors0.53
    3Development HGF signaling pathway
    Apoptosis and survival NGF signaling pathway0.36
    4Tight junction
    Tight junction
    5Trk receptor signaling mediated by PI3K and PLC-gamma
    Trk receptor signaling mediated by PI3K and PLC-gamma

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for EPB41L1
        Apoptosis and survival NGF signaling pathway


    1 GeneGo (Thomson Reuters) Pathway for EPB41L1
        Apoptosis and survival NGF signaling pathway

    1 BioSystems Pathway for EPB41L1
        Trk receptor signaling mediated by PI3K and PLC-gamma

    5        Reactome Pathways for EPB41L1
        Trafficking of AMPA receptors
    Transmission across Chemical Synapses
    Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity
    Neuronal System
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell


    1         Kegg Pathway  (Kegg details for EPB41L1):
        Tight junction


    EPB41L1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EPB41L1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/32 Interacting proteins for EPB41L1 (Q9H4G03 ENSP000003371684) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STARD13Q9Y3M83, ENSP000003387854I2D: score=5 STRING: ENSP00000338785
    ITPR1Q146433, ENSP000004059344I2D: score=3 STRING: ENSP00000405934
    AGAP2Q994903, ENSP000003281604I2D: score=3 STRING: ENSP00000328160
    GRIA1P422613, ENSP000002859004I2D: score=2 STRING: ENSP00000285900
    GRIA4P480583, ENSP000002824994I2D: score=1 STRING: ENSP00000282499
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS--
    GO:0030866cortical actin cytoskeleton organization IEA--

    EPB41L1 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 EPB41L1 (E41L1)

    Search CenterWatch for drugs/clinical trials and news about EPB41L1 / E41L1

    (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 EPB41L1 gene (5 alternative transcripts): 
    NM_001258329.1  NM_001258330.1  NM_001258331.1  NM_012156.2  NM_177996.2  

    Unigene Cluster for EPB41L1:

    Erythrocyte membrane protein band 4.1-like 1
    Hs.437422  [show with all ESTs]
    Unigene Representative Sequence: BX537978
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000202028 ENST00000432589 ENST00000406771 ENST00000430276 ENST00000373950
    ENST00000452261 ENST00000447825 ENST00000427533 ENST00000373945 ENST00000338074(uc010zvo.1 uc002xev.3 uc002xew.3 uc002xey.3 uc002xfb.3 uc010gfq.3)
    ENST00000373941 ENST00000451082 ENST00000454226 ENST00000479336 ENST00000432603
    ENST00000373946(uc002xex.3) ENST00000441639(uc002xeu.3 uc002xez.3)


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    Additional mRNA sequence: 

    AB002336.1 AK096848.1 AK126875.1 AK299817.1 AY049789.1 BC013885.2 BC040259.1 BC113858.1 
    BC113899.1 BC131796.1 BX537978.1 CR936825.1 

    24/25 DOTS entries (see all 25):

    DT.217315  DT.95171682  DT.100042028  DT.91916726  DT.100817343  DT.92465560  DT.75180435  DT.92465536 
    DT.97787891  DT.120821390  DT.95184769  DT.100696359  DT.102844191  DT.120821365  DT.92010395  DT.120821280 
    DT.120821283  DT.40132629  DT.75148970  DT.91666088  DT.120821417  DT.92033793  DT.95121764  DT.95171681 

    24/303 AceView cDNA sequences (see all 303):

    AA564358 Z42741 BX400807 CD365207 BU625196 AB002336 BF221934 BE764255 
    BM719048 BX279841 AA325773 AI362187 BQ882700 BQ003264 BU607990 BG413508 
    AY049789 BM705980 BM705519 BF438679 BQ183505 BF476213 AK096848 AL119801 

    GeneLoc Exon Structure

    5/30 Alternative Splicing Database (ASD) splice patterns (SP) for EPB41L1 (see all 30)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a ·
    SP1:                                            -     -     -     -     -     -     -     -           -     -     -     -     -     -     -                     
    SP2:                                                                                                                                      -                     
    SP3:                                                                                                                                                            
    SP4:                                            -     -     -     -     -     -     -           -     -     -     -     -     -     -     -     -     -         
    SP5:                                                                                                                                            -     -         

    ExUns: 15b ^ 16a · 16b · 16c · 16d ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c · 19d ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c · 26d ^ 27 ^ 28a ·
    SP1:                                                                                                                                                  -     -   
    SP2:                                                                                                                                                  -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35a · 35b ^ 36 ^ 37
    SP1:  -     -                                                                     
    SP2:  -     -                                                                     
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for EPB41L1

    (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

    EPB41L1 expression in normal human tissues (normalized intensities)      EPB41L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCCCCACC
    EPB41L1 Expression
    About this image


    EPB41L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Globus Pallidus   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Spinal Cord (Nervous System)
             Dorsal Root Ganglion   
     
     Eye (Sensory Organs)
             Retina
     
     Neural Tube (Nervous System)
             Spinal Ventral Columns

    See EPB41L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EPB41L1

    SOURCE GeneReport for Unigene cluster: Hs.437422

    UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0
    Tissue specificity: Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal
    muscle

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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 EPB41L1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Epb4.1l11 , 5 erythrocyte protein band 4.1-like 11, 5 90.97(n)1
    95.22(a)1
      2 (77.39 cM)5
    138211  NM_001006664.21  NP_001006665.11 
     1564209095 
    chicken
    (Gallus gallus)
    Aves EPB41L11 erythrocyte membrane protein band 4.1-like 1 78.92(n)
    82.02(a)
      419117  XM_417304.3  XP_417304.3 
    lizard
    (Anolis carolinensis)
    Reptilia EPB41L16
    erythrocyte membrane protein band 4.1-like 1
    81(a)
    1 ↔ 1
    GL343365.1(120955-181229)
    zebrafish
    (Danio rerio)
    Actinopterygii CA469697.12   -- 76.81(n)   276716  CA469697.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cora3 cytoskeleton organization and
    biogenesis cytoskeletal more
    57(a)
    (best of 2)
      56C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea frm-33 Band 4.1 family 35(a)
    (best of 2)
      X(11611482-11616063)   --


    ENSEMBL Gene Tree for EPB41L1 (if available)
    TreeFam Gene Tree for EPB41L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EPB41L1 gene
    EPB41L52  EPB412  FRMD32  PTPN32  EPB41L4B2  FARP12  PTPN42  FRMD52  
    EPB41L32  FRMD72  EPB41L4A2  FARP22  EPB41L22  
    17 SIMAP similar genes for EPB41L1 using alignment to 12 protein entries:     E41L1_HUMAN (see all proteins):
    EPB41L2    EPB41    DKFZp564J1082    FRMD3    FRMD5    EPB41L3
    PTPN4    EPB41L4A    FARP2    PTPN3    EPB41L5    EZR
    FARP1    RDX    EZR-ROS1    PTPN14    PTPN21

    EPB41L1 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

    10/2680 SNPs in EPB41L1 are shown (see all 2680)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666004
    Mental retardation, autosomal dominant 11 (MRD11)4--see VAR_0666002 P S mis40--------
    rs2007191941,2
    --31498073(+) GGGGG-/CGCATT 4 -- int10--------
    rs1134208791,2
    F--31529971(+) TAGGGA/TTTCAC 5 -- int11Minor allele frequency- T:0.00CSA 1
    rs113008111,2
    C--34678991(+) AAAAA-/AAAACG 4 -- us2k1 tfbs3 trp30--------
    rs27460981,2
    C,F--34681132(+) GATTAA/CAGGCA 1 -- us2k14Minor allele frequency- C:0.43NA WA CSA 7
    rs1483319291,2
    C--34681210(+) CCATAC/TTGGCC 1 -- us2k10--------
    rs1807300441,2
    --34681326(+) TAGAGA/GCAGGG 1 -- us2k10--------
    rs1143808131,2
    --34681516(+) TTCCTC/TCTTCT 1 -- us2k10--------
    rs1857839621,2
    --34681667(+) TGTTGA/GTTGAG 1 -- us2k10--------
    rs748127511,2
    F--34681769(+) TAAAAT/ATAAAT 1 -- us2k12Minor allele frequency- A:0.02CSA WA 119

    HapMap Linkage Disequilibrium report for EPB41L1 (34679426 - 34820721 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EPB41L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3368CNV Insertion18451855
    nsv3369CNV Insertion18451855
    nsv833965CNV Loss17160897


    Human Gene Mutation Database (HGMD): EPB41L1
    SABiosciences Cancer Mutation PCR Assays
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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: 602879    OMIM disorders: --

    UniProtKB/Swiss-Prot: E41L1_HUMAN, Q9H4G0
  • Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptative behavior and manifested
    during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 5 diseases for EPB41L1:    About MalaCards
    neuronitis    intellectual disability    anorexia nervosa    mental retardation
    schizophrenia


    EPB41L1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): EPB41L1
    Human Genome Epidemiology (HuGE) Navigator: EPB41L1 (2 documents)

    Export disorders for EPB41L1 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 EPB41L1 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with EPB41L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. PIKE: a nuclear GTPase that enhances PI3kinase activity and is regulated by protein 4.1N. (PubMed id 11136977)1, 2 Ye K.... Snyder S.H. (2000)
    7. Four paralogous protein 4.1 genes map to distinct chromosomes in mouse and human. (PubMed id 9828140)1, 3 Peters L.L....Conboy J.G. (1998)
    8. Radiation hybrid mapping of EPB41L1, a novel protein 4.1 homologue, to human chromosome 20q11.2-q12. (PubMed id 9570967)1, 3 Kim A.C....Chishti A.H. (1998)
    9. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    10. D2 and D3 dopamine receptor cell surface localization mediated by interaction with protein 4.1N. (PubMed id 12181426)1, 9 Binda A.V....Levenson R. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2036 HGNC: 3378 AceView: EPB41L1 Ensembl:ENSG00000088367 euGenes: HUgn2036
    ECgene: EPB41L1 Kegg: 2036 H-InvDB: EPB41L1

    (According to HUGE)
    About This Section
    HUGE: KIAA0338

    (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 EPB41L1 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 EPB41L1 gene:
    Search GeneIP for patents involving EPB41L1

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



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